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  • Senior-Loken Syndrome Orphanet
    Differential diagnosis SLS presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPH and Joubert syndrome related diseases (JSRD) such as Joubert syndrome with oculorenal defect, Bardet-Biedl syndrome (BBS) and Alström syndrome. Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity).
    IQCB1, NPHP1, CEP290, NPHP4, WDR19, NPHP3, SDCCAG8, CEP164, INVS, SCLT1, TRAF3IP1, POC1B, TMEM218, RPGRIP1L, DNAJC13, INF2, UMOD, HNF1B, RPGR, ALDH3A2
    • Senior-Loken Syndrome 7 Omim
      A number sign (#) is used with this entry because Senior-Loken syndrome 7 (SLSN7), a ciliopathy, is caused by homozygous mutation in the SDCCAG8 gene (613524) on chromosome 1q43. Mutations in SDCCAG8 can also result in Bardet-Biedl syndrome-16 (BBS16; 615993). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Molecular Genetics Otto et al. (2010) used homozygosity mapping followed by exon capture and massively parallel sequencing to identify a homozygous truncating mutation in the SDCCAG8 gene (613524.0001) in 2 sibs with Senior-Loken syndrome-7, who were born of consanguineous parents from Reunion Island. Both patients had biopsy-confirmed nephronophthisis and retinal degeneration, leading to blindness in 1.
    • Senior-Loken Syndrome 4 Omim
      A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-4 (SLSN4) is caused by homozygous mutation in the NPHP4 gene (607215) on chromosome 1p36. Mutations in the NPHP4 gene can also cause nephronophthisis-4 (606966). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Schuermann et al. (2002) reported a family (F3) in which 3 individuals were affected with late-onset retinitis pigmentosa in addition to nephronophthisis, an association described as Senior-Loken syndrome. Mapping In family F3 reported by Schuermann et al. (2002), haplotype analysis of 8 markers at the nephronophthisis-4 locus was compatible with homozygosity by descent in all 3 affected children.
    • Senior-Loken Syndrome 5 Omim
      A number sign (#) is used with this entry because Senior-Loken syndrome-5 (SLSN5) is caused by homozygous or compound heterozygous mutation in the IQCB1 gene (609237) on chromosome 3q13. For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Description Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000). Mapping Otto et al. (2005) identified a cohort of unrelated individuals with nephronophthisis, 435 with isolated kidney involvement and 92 with SLSN. In this cohort, recessive mutations in NPHP1 (607100), NPHP2 (INVS; 243305), NPHP3 (608002), or NPHP4 (607215) had been detected in 151 of 435 individuals with NPHP (35%) and in 19 of 92 individuals with SLSN (21%).
    • Senior-Loken Syndrome 8 Omim
      A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-8 (SLSN8) is caused by homozygous or compound heterozygous mutation in the WDR19 gene (608151) on chromosome 4p14. For a general phenotypic description and discussion of genetic heterogeneity of Senior-Loken syndrome, see SLSN1 (266900). Clinical Features Coussa et al. (2013) studied a consanguineous French Canadian family with an atypical form of retinitis pigmentosa (RP) as well as renal cysts. The 50-year-old male proband had bilateral visual acuities of hand motion only, with severe constriction of visual fields (5 degrees); electroretinographic responses were undetectable. Fundus examination showed fine bone spicules in the periphery and severely attenuated vessels in both eyes, with slight temporal pallor of the optic discs.
    • Senior Loken Syndrome Gard
      Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis , which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis typically leads to end-stage kidney disease by adolescence.
    • Senior-Loken Syndrome 6 Omim
      A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-6 (SLSN6) is caused by homozygous mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21. Mutations in the CEP290 gene can also cause Joubert syndrome-5 (610188). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Sayer et al. (2006) described a Turkish family in which 2 sibs with Senior-Loken syndrome reached end-stage renal disease at 11 and 13 years of age, respectively. Both had tapetoretinal degeneration resulting in reduced vision before 3 years of age.
    • Senior-Loken Syndrome 3 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Mapping Omran et al. (2002) studied a kindred of German ancestry with extended consanguinity and typical findings of SLSN. They identified a locus for SLSN in the region of the nephronophthisis-3 locus on chromosome 3q21-q22 (NPHP3; 604387). Haplotype studies showed a result compatible with homozygosity by descent in all affected individuals, covering the whole NPHP3 region. Linkage analysis yielded a parametric maximum multipoint lod score of 3.14.
    • Senior-Loken Syndrome 9 Omim
      A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-9 (SLSN9) is caused by homozygous or compound heterozygous mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Description Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. Clinical Features Bizet et al. (2015) reported 8 patients from 5 families with nephronophthisis associated with retinal dystrophy, consistent with a diagnosis of Senior-Loken syndrome.
    • Senior-Loken Syndrome 1 Omim
      A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-1 (SLSN1) is caused by homozygous mutation in the NPHP1 gene (607100) on chromosome 2q13. Description Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387).
    • Nephronophthisis 15 Omim
      A number sign (#) is used with this entry because nephronophthisis-15 (NPHP15) is caused by homozygous or compound heterozygous mutation in the CEP164 gene (614848) on chromosome 11q23. For a general phenotypic description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100). Clinical Features Chaki et al. (2012) reported a Saudi child, born of consanguineous parents, with a variant of nephronophthisis characterized by Leber congenital amaurosis and retinal degeneration resulting in blindness by age 2 years. Affected individuals in 3 additional families were later identified. In 1 family, 2 patients had NPHP at ages 8 and 9 years, respectively, and all had some degree of retinal degeneration, with 1 child being legally blind at age 5 months. One of the children also had seizures and developmental delay. In another family, a severely affected child had NPHP by age 8 years, retinal degeneration, flat electroretinogram, cerebellar vermis hypoplasia, facial dysmorphism, polydactyly, abnormal liver function tests, bronchiectasis, and obesity.
    • Senior–løken Syndrome Wikipedia
      Congenital eye disorder Senior–Løken syndrome Other names Renal dysplasia-retinal aplasia syndrome Senior–Løken syndrome is an autosomal recessive inherited condition Specialty Medical genetics Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. [1] [2] [3] It is a rare, ciliopathic , autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease . [4] Contents 1 Genetics 2 Pathophysiology 2.1 Relation to other rare genetic disorders 3 Diagnosis 4 Treatment 5 References 6 External links Genetics [ edit ] Genes involved include: Type OMIM Genes SLSN1 266900 NPHP1 SLSN3 606995 unknown SLSN4 606996 NPHP4 SLSN5 609254 NPHP5/ IQCB1 [5] SLSN6 610189 NPHP6/ CEP290 SLSN7 613615 SDCCAG8 Pathophysiology [ edit ] The cause of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia . [6] Relation to other rare genetic disorders [ edit ] Recent findings in genetic research have suggested that a large number of genetic disorders , both genetic syndromes and genetic diseases , that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically -observed disorders . Such diseases are becoming known as ciliopathies . Known ciliopathies include primary ciliary dyskinesia , Bardet–Biedl syndrome , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel–Gruber syndrome and some forms of retinal degeneration . [4] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( August 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it . ( August 2017 ) References [ edit ] ^ synd/1861 at Who Named It? ^ Senior B, Friedmann AI, Brando JL (1961). "Juvenile familial nephropathy with tapetoretinal degeneration.
  • Pancreatic Neuroendocrine Tumor Wikipedia
    PanNETs are a type of neuroendocrine tumor , representing about one third of gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Many PanNETs are benign , while some are malignant . ... However, morphological imaging alone is not sufficient for a definite diagnosis [14] [16] On biopsy , immunohistochemistry is generally positive for chromogranin and synaptophysin . [17] Genetic testing thereof typically shows altered MEN1 and DAXX / ATRX . [17] Staging [ edit ] The 2010 WHO classification of tumors of the digestive system grades all the neuroendocrine tumors into three categories, based on their degree of cellular differentiation (from well-differentiated "NET G1" through to poorly-differentiated "NET G3"). ... Combinations of several medicines have been used, such as doxorubicin with streptozocin and fluorouracil (5-FU) [12] and capecitabine with temozolomide. [ citation needed ] Although marginally effective in well-differentiated PETs, cisplatin with etoposide has some activity in poorly differentiated neuroendocrine cancers (PDNECs), [12] particularly if the PDNEC has an extremely high Ki-67 score of over 50%. [8] : 30 Several targeted therapy agents have been approved in PanNETs by the FDA based on improved progression-free survival (PFS): everolimus (Afinitor) is labeled for treatment of progressive neuroendocrine tumors of pancreatic origin in patients with unresectable, locally advanced or metastatic disease. [20] [21] The safety and effectiveness of everolimus in carcinoid tumors have not been established. [20] [21] sunitinib (Sutent) is labeled for treatment of progressive, well-differentiated pancreatic neuroendocrine tumors in patients with unresectable locally advanced or metastatic disease. [22] [23] Sutent also has approval from the European Commission for the treatment of 'unresectable or metastatic, well-differentiated pancreatic neuroendocrine tumors with disease progression in adults'. [24] A phase III study of sunitinib treatment in well differentiated pNET that had worsened within the past 12 months (either advanced or metastatic disease) showed that sunitinib treatment improved progression-free survival (11.4 months vs. 5.5 months), overall survival , and the objective response rate (9.3% vs. 0.0%) when compared with placebo. [25] Genetics [ edit ] Pancreatic neuroendocrine tumors may arise in the context of multiple endocrine neoplasia type 1 , Von Hippel–Lindau disease , neurofibromatosis type 1 (NF-1) or tuberose sclerosis (TSC) [26] [27] Analysis of somatic DNA mutations in well-differentiated pancreatic neuroendocrine tumors identified four important findings: [28] [6] as expected, the genes mutated in NETs, MEN1 , ATRX , DAXX , TSC2 , PTEN and PIK3CA , [28] are different from the mutated genes previously found in pancreatic adenocarcinoma . [29] [30] one in six well-differentiated pancreatic NETs have mutations in mTOR pathway genes, such as TSC2 , PTEN and PIK3CA . [28] The sequencing discovery might allow selection of which NETs would benefit from mTOR inhibition such as with everolimus , but this awaits validation in a clinical trial . mutations affecting a new cancer pathway involving ATRX and DAXX genes were found in about 40% of pancreatic NETs. [28] The proteins encoded by ATRX and DAXX participate in chromatin remodeling of telomeres ; [31] these mutations are associated with a telomerase -independent maintenance mechanism termed ALT (alternative lengthening of telomeres) that results in abnormally long telomeric ends of chromosomes . [31] ATRX / DAXX and MEN1 mutations were associated with a better prognosis . [28] References [ edit ] ^ Burns WR, Edil BH (March 2012).
    MEN1, ATRX, DAXX, ELK3, TP53, EPHB1, SLC6A2, CEACAM5, CEACAM7, UQCRFS1, DHDDS, CHPT1, RALBP1, CIB1, SEMA4D, RIPK1, CXCR4, VEGFA, TTR, GNA12, TSC2, TFE3, CDKN1B, PSG2, POMC, MYCN, CEACAM3, GRN, MUC16
  • Dowling-Degos Disease Gard
    Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases.
    ADAM10, KRT5, POFUT1, POGLUT1, ADAR
    • Reticulate Acropigmentation Of Kitamura Omim
      A number sign (#) is used with this entry because of evidence that reticulate acropigmentation of Kitamura (RAK) is caused by heterozygous mutation in the ADAM10 gene (602192) on chromosome 15q21. Description Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon.
    • Reticulate Acropigmentation Of Kitamura Wikipedia
      Reticulate acropigmentation of Kitamura Other names RAK [1] Specialty Dermatology Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm in diameter on the volar and dorsal aspects of the hands and feet, usually inherited in an autosomal-dominant fashion. [2] : 856 [3] [4] Contents 1 Genetics 2 See also 3 References 4 External links Genetics [ edit ] This condition is associated with mutations in the a disintegrin and metalloproteinase domain-containing protein 10 ( ADAM10 ) gene. This association was first shown in 2013. See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Reticulate acropigmentation of Kitamura" . www.orpha.net . Retrieved 23 April 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
    • Reticulate Acropigmentation Of Kitamura Orphanet
      A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
  • Azotemia, Familial Omim
    Furthermore, urea is reabsorbed actively by the tubule; this process is apparently brought into play particularly in states of low protein intake. Net reabsorption might be due to exaggerated active reabsorption or to deficient secretion.
  • Insulinoma Gard
    Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas.
    MEN1, RPS15, CDKN2B, CDKN2C, IAPP, GCG, CDKN1B, CDKN1A, SST, FOXM1, GLP1R, PDX1, INS, IL1B, RIT2, PTPRN2, GAD1, EHMT1, IGF2, ZGLP1, CDKN2A, SLC30A8, SLC30A10, GCK, SSTR2, FFAR1, YY1, LEP, DPP4, INSM1, MNX1, HSPD1, GAD2, SLC2A2, CASR, RALBP1, RIPK1, PDHX, BTC, UQCRFS1, TP53, TGM2, SSTR5, CDKN1C, INSR, ABCC8, SLC6A2, SSTR4, SSTR3, WFS1, NIT1, SERPINA1, PTPRN, GIP, GCKR, CORO1A, H3P47, PRL, H3P10, ERBB2, GAST, EGR1, ELK3, CALCA, CASP3, EPHB1, G6PC, DLK1, CCN5, SQSTM1, PTTG1, GCM2, LHX2, KL, MAPK8IP1, INSL5, IRS2, ZNRD2, KHDRBS1, DCTN6, LILRB1, FASTK, CCND1, PDIA5, FAS, ATF6, KDM1A, PDZD2, BCL2, BRCA1, TNKS, PLA2G6, HNF1A, TCF19, TGFA, TGFB1, CASP8, THBD, TKT, TSPAN7, TPD52, TRP-AGG2-5, TRPC1, EIPR1, TXN, TYRP1, UCP2, VDR, CACNA1D, BRAF, STAB1, ERP44, NUP62, KCNH4, CAT, KCNH8, GPR119, STOML3, AKT1, HCAR2, GOLGA6A, TICAM2, HES3, MIR107, MIR144, MIR155, MIR204, MIR21, MIR375, INS-IGF2, ADSS2, TMED7-TICAM2, ECT, LINC02210-CRHR1, H3P23, ADM, SLC22A12, TXNDC5, TRABD, RCBTB1, FGF21, MCAT, MCTS1, TMED7, ADIPOR1, DCTN4, CDKAL1, SLC25A38, BANK1, MEG3, ZC3H12A, APOC2, SOX6, SELENOS, IGSF9, SEMA6A, HAMP, G6PC2, PDIA2, ANGPT2, SYP, STAT5A, STC1, STAT5B, KCNJ1, KCNJ6, KRT8, KRT16, KRT19, DECR1, LEPR, LGALS3, LMO2, EPCAM, SMAD2, SMAD3, SMAD4, MAPT, MC2R, MDK, RAB8A, CUX1, MET, CIITA, MLH1, EGF, EGFR, INPPL1, HK1, MTOR, FGF13, GNA12, GPD2, FBN1, GRN, GSK3B, GSR, GTF2H1, ESR2, ELK1, HLA-DQB1, HMGN2, HNF4A, EPHB2, IFI27, IGFBP1, IGFBP2, IL4, IL10, MRC1, NCAM1, NEDD4, SLC2A1, RAP1A, REG1A, CPE, CMA1, S100A8, SCT, CCL2, CXCL12, SDHD, CHGA, RAB3A, CDKN2D, SLC16A1, SNX1, CDC42, CDK1, CCND3, CCNC, CCK, STAT1, RANBP2, CR2, NF1, PIK3CG, NFE2L1, CTSB, NME1, OPA1, PAX4, PAX6, PCSK1, ENPP1, CTNNB1, PKD1, CRHR1, POLD1, MAPK1, MAPK3, MAPK8, ADCYAP1, PRSS1, PSEN2, PSMD9, PTEN, ACO2
    • Insulinoma Wikipedia
      Insulinoma Pathology of pancreatic endocrine tumor (insulinoma). Specialty Oncology An insulinoma is a tumor of the pancreas that is derived from beta cells and secretes insulin . It is a rare form of a neuroendocrine tumor . Most insulinomas are benign in that they grow exclusively at their origin within the pancreas, but a minority metastasize . Insulinomas are one of the functional pancreatic neuroendocrine tumor (PNET) group ("functional" because it increases production of insulin). [1] In the Medical Subject Headings classification, insulinoma is the only subtype of "islet cell adenoma". [2] Beta cells secrete insulin in response to increases in blood glucose . The resulting increase in insulin acts to lower blood glucose back to normal levels, at which point further secretion of insulin is stopped. In contrast, the secretion of insulin by insulinomas is not properly regulated by glucose, and the tumors continue to secrete insulin causing glucose levels to fall further than normal.
    • Insulinoma Orphanet
      Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia. Epidemiology The incidence in the general population is 1/1,000,000-1/250,000 (but higher in autopsy studies). There is a slight female predominance. It is the most common endogenous cause of hyperinsulinemic hypoglycemia. Malignant insulinoma has an incidence 0.01/100,000 in Europe. Clinical description Insulinoma can present at any age but the median age of diagnosis is in the 5th decade of life. It manifests with various autonomic and neuroglycopenic symptoms such as tremor, palpitations, weakness, diaphoresis, hyperphagia, visual disturbances, confusion, behavioral and personality changes, seizures and coma.
  • Retinitis Pigmentosa 71 Omim
    Clinical Variability Bujakowska et al. (2015) reported 2 sisters, 15 and 22 years of age, with RP as well as systemic features suggesting a Bardet-Biedl-like ciliopathy (BBS; see 209900). Both were obese and had a history of delayed speech development and elevated liver transaminases. ... Molecular Genetics In 2 sisters with RP and obesity, who were negative for mutation in 12 BBS-associated genes, Bujakowska et al. (2015) performed whole-exome sequencing (WES) and identified compound heterozygosity for a missense mutation (H1567Q; 607386.0013) and a splice site mutation (607386.0014) in the IFT172 gene.
    C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6, RGR, DHX38, GUCA1B, OFD1, IDH3A, IDH3B, PRPF8, RP1, FAM161A, TULP1, SNRNP200, PRPF31, CERKL, NR2E3, CA4, MAK, PRCD, PRPF3, RLBP1, PROM1, PCARE, CHM, ARL2BP, TOPORS, BBS1, CYP4V2, BEST1, DHDDS, KLHL7, IMPG2, HGSNAT, IFT140, PRPF6, BBS2, TTC8, AHI1, SCAPER, CLN3, IFT172, CDHR1, KIZ, FLVCR1, TTPA, ARL3, PRPF4, AGBL5, RP9, SLC7A14, FSCN2, POMGNT1, ZNF513, ZNF408, RBP4, ABHD12, UNC119, NEK2, AHR, TUB, SEMA4A, ATF6, IFT88, FOXI2, UBAP1L, CCZ1B, CROCC, PDAP1, FAM71A, KIAA1549, IRX5, ARHGEF18, C1QTNF5, PRTFDC1, SLC37A3, NAALADL1, CRB2, NGF, CEP250, CWC27, CCDC66, GRIN2B, PRPH2, AGTPBP1, SLC6A6, AIFM1, FGFR2, KL, MT2A, PTEN, MYO7A, CEP290, GUCA1A, RDH5, CDH23, IQCB1, MSTO1, CACNA1A, BBS4, ATXN7, USH1C, CFAP410, ATP6, PANK2, MKKS, BBS9, SLC24A1, PEX1, RP1L1, HADHA, PNPLA6, SDCCAG8, BBS12, NDUFAF5, RRM2B, PDHA1, NDUFS8, NDUFV2, LZTFL1, FOXRED1, POMT2, RCBTB1, TST, FKRP, BBS7, CNGB3, NCAPG2, NPHP1, MKS1, NDUFB11, SURF1, SDHB, PEX2, WDPCP, PRPH, NDUFV1, NDUFA13, SCN1A, SCO1, SDHA, SDHD, PHYH, TACO1, LIPT1, SLC19A1, NDUFA12, PEX5, NGLY1, ALMS1, LARGE1, NDUFS4, PRDX1, NDUFS3, POLR3A, MFSD8, ZDHHC24, RNASEH1, CTNS, ARL13B, TRIM32, NIPAL1, ECHS1, FASTKD2, ERCC3, POMT1, ERCC6, ERG, IFT27, NDUFAF6, BBS5, NDUFS2, CLRN1-AS1, COX20, CYGB, COX15, COX10, COX8A, COX7B, CDH23-AS1, ACOX1, C8orf37-AS1, MMACHC, JAG1, AMACR, AIRE, PET100, SDHAF1, ZFYVE26, PHF3, ATP1A2, BCS1L, NDUFS7, CAV1, TTLL5, VSX2, ERCC8, COX6B1, PRRT2, MTFMT, GSS, COL18A1, GMPPB, HADHB, ND1, ND2, ND3, ND4, ND5, ND6, TRNK, TRNL1, TRNN, TRNS1, TRNV, TRNW, TRIM37, BBS10, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFS1, SLC19A3, WFS1, BBIP1, COA8, HCCS, NDUFAF2, HADH, TMEM14B, COX14, PLXNA2, LSM2, TRNT1, CLU, MFRP, PCDH15, DHX16, PTPRC, SLU7, KLK3, SIGMAR1, NXNL1, CLTA, CNTF, NT5C2, RPE, PROS1, PLAG1, NPHP4, TIMP3, PSAT1, NPEPPS, MYP2, CXCR6, RIMS1, RRH, SLC19A2, EXOSC2, ADIPOR1, LPAR2, USP9X, COG4, VCP, EDN1, LCA5, PDC, ATN1, OTX2, OTC, CNOT3, MVK, LPCAT1, MMP9, EDNRA, RCC1, EPO, INS, FANCF, HSPA4, HK1, GNAT1, HIF1A, OPN4, GSN, SERPINF1, GPR42, NSMCE3, GRK1, ALDH3A2, SFRP2, ACKR3, ADRA1A, ARL2, ATXN2, CC2D2A, ADRA2B, WDR19, SOD3, PLIN2, SSTR4, BRS3, STC1, ACTB, NRG4, TWIST2, GRK7, POC5, ARMS2, MFT2, SAMD11, SAMD7, NOC2L, JAKMIP1, MIR204, POLDIP2, GUCY2EP, LIN28B, NPHP3, ARSI, RD3, CENPV, PITPNM3, INVS, CENPK, TENT5A, CYCS, DCUN1D1, TWNK, SLC2A4RG, TBX20, RDH11, PNPLA2, KIDINS220, NGB, MPP4, NYX, TNMD, ENFL2, TUT1, DNER, FTO, ELOVL6, ALG12, RNF19A, COQ8B, SETD2, KLF15, PDZD7, HKDC1, C5AR2, DNAJC17, ADGRV1, CEP78, GNPTG, AAVS1, THBS2, WHRN, MMP2, HMOX1, HK2, HGF, GRM5, GRM1, GRB10, GLO1, GK, GJB2, GDNF, GDF2, G6PD, FRZB, FN1, FGF5, FGF2, FBN2, HSP90AA1, IDH2, IFNG, INSR, MEIS2, MDH1, MAP1A, SMAD4, LTB, LAMP1, ISG20, ING1, IGF1, IMPA1, CXCL8, IL6, IL2RA, IL1B, IL1A, CCN1, FASN, ETV5, ERN1, ALDH7A1, CACNA1F, C5AR1, C3, C1QBP, BSG, BMP4, BCL2, ARRB2, CANX, ARR3, ABCC6, APOE, APOB, AMFR, ADH7, ABO, CACNA1S, CCT, ERBB2, CYBB, EGF, E2F1, DUSP6, DNMT3A, CFD, ACE, CYLD, CTNNB1, CD44, MAPK14, CRYAB, CRK, CP, CORD1, COL2A1, CD74, RAB8A, MSR1, SH3BP4, CYTB, SYNJ1, FGF18, HSD17B6, DGKE, BRAP, SMC1A, USP11, AIMP2, PAX8, ZNF132, ZFP36, USH1E, TSC1, TP53, TNF, TMPRSS2, TSPAN7, SMC3, ARHGEF2, CRLF1, AKT3, TMED3, SIRT1, ARC, MAPRE3, ARPP21, AHSA1, PPIH, HEPH, SNAP29, PLEKHM1, PHYHIP, HDAC4, KNTC1, EIF2AK3, GRAP2, EFTUD2, TIMP2, TIMP1, DYNLT3, PKNOX1, HTRA1, PRNP, MAPK1, PRKCG, POLG, PMM2, PLAU, PIM1, RAC1, PGF, CFP, PDGFRB, NPTX2, NFE2L2, NAGLU, MYC, ALDH18A1, RASGRF1, ELOVL4, SFTPD, STATH, SOS1, SOD1, SNRPB, SNCA, SLC2A1, SGSH, SFRP5, RBP1, SEC14L1, CX3CL1, CCL2, S100A6, RPS6KB1, RPS6, RCVRN, H3P22
    • Retinitis Pigmentosa 48 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-48 is caused by heterozygous mutation in the gene encoding guanylate cyclase activator 1B (GUCA1B; 602275) on chromosome 6p21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In 7 members of 3 families in which mutation in the GUCA1B gene led to retinitis pigmentosa (RP48), Sato et al. (2005) found that the mutation was associated with RP with or without macular involvement in 5 members, macular degeneration in 1 member, and asymptomatic normal phenotype in 1 member. Sato et al. (2005) concluded that this mutation causes autosomal dominant retinal dystrophy with variable phenotypic expression and incomplete penetrance. Molecular Genetics Sato et al. (2005) screened 96 unrelated Japanese patients with retinitis pigmentosa for mutations in the GUCA1B gene and identified heterozygosity for a G157R mutation (602275.0001) in 3.
    • Retinitis Pigmentosa 55 Omim
      Thorough examination of the affected sibs by Safieh et al. (2010) revealed no recognizable primary or secondary features of BBS other than retinitis pigmentosa.
    • Intellectual Developmental Disorder And Retinitis Pigmentosa Omim
      A number sign (#) is used with this entry because of evidence that intellectual developmental disorder and retinitis pigmentosa (IDDRP) is caused by homozygous or compound heterozygous mutation in the SCAPER gene (611611) on chromosome 15q24. Description Intellectual developmental disorder and retinitis pigmentosa is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017). Clinical Features Tatour et al. (2017) studied 4 patients from 3 unrelated families with intellectual developmental disorder and retinitis pigmentosa.
    • Retinitis Pigmentosa 39 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-39 (RP39) is caused by homozygous or compound heterozygous mutation in the USH2A gene (608400) on chromosome 1q41. Mutations in the same gene cause Usher syndrome type IIA (276901). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Rivolta et al. (2002) described a patient with isolated RP who had complete paternal heterodisomy for chromosome 1. Clinical findings were typical, including fundi with attenuated retinal vessels and intraretinal bone spicule pigment around the periphery. Electroretinograms (ERGs) were reduced but detectable at the age of 54 years.
    • Cone-Rod Dystrophy 2 Gard
      Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina . These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Severity of symptoms and rate of disease progression may vary; however, most individuals experience impaired color vision, blind spots, loss of peripheral vision, and night blindness by adulthood. CORD2 is caused by mutations in the CRX gene and is inherited in an autosomal dominant manner.
    • Retinitis Pigmentosa 35 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-35 (RP35) can be caused by compound heterozygous mutation in the SEMA4A gene (607292) on chromosome 1q22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa, 25 with cone-rod dystrophy (CORD10; 610283), and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 RP and 2 CORD patients and heterozygosity for another substitution (607292.0003) in 3 patients with RP and 1 patient with congenital blindness. None of the mutations were found in 100 ethnically matched controls. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Eyes - Night blindness followed by complete blindness - Bone corpuscle-like pigmentation in equatorial and peripheral areas - Attenuated blood vessels in periphery - Macula clear in early stages MISCELLANEOUS - Allelic with cone-rod dystrophy 10 ( 610283 ) MOLECULAR BASIS - Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001 ) ▲ Close
    • Retinitis Pigmentosa 72 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-72 (RP72) is caused by homozygous mutation in the ZNF408 gene (616454) on chromosome 11p11. Heterozygous mutation in the ZNF408 gene has been reported to cause exudative vitreoretinopathy (see EVR6, 616468). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Avila-Fernandez et al. (2015) studied 3 patients from 2 unrelated Spanish families who presented with night blindness followed by visual field loss and decreased visual acuity. Two sisters, born of unaffected parents from the same small geographic area, had onset of symptoms at 30 and 40 years of age, whereas the unrelated male patient from a consanguineous family presented at 17 years of age.
    • Retinitis Pigmentosa 66 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-66 (RP66) is caused by homozygous mutation in the RBP3 gene (180290) on chromosome 10q11. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Den Hollander et al. (2009) studied a consanguineous Italian family in which 3 brothers and a sister had retinitis pigmentosa; 2 of the brothers underwent detailed clinical evaluation, which demonstrated a wide range of severity in this family. The 42-year-old brother reported loss of central vision and onset of night blindness at 32 years of age, whereas his older brother had loss of central vision at age 60 with no night deficiency even at 67 years of age. The older brother had visual acuities of 20/60 and 20/80 and normal color vision, whereas the younger had acuities of 20/200 bilaterally, with a tritan axis of confusion on the Farnsworth-D-15 panel.
    • Retinitis Pigmentosa 19 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-19 (RP19) can be caused by homozygous or compound heterozygous mutation in the ABCR gene (ABCA4; 601691) on chromosome 1p22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In the population of Spain, 39% of the retinitis pigmentosa pedigrees show an autosomal recessive pattern of inheritance (Ayuso et al., 1995). Martinez-Mir et al. (1997) described a consanguineous Spanish family in which 6 of 7 sibs were affected. The parents, who were related as second cousins, were unaffected. The mean age of onset was 8 years.
    • Retinitis Pigmentosa 13 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-13 (RP13) is caused by heterozygous mutation in the PRPF8 gene (607300) on chromosome 17p13. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features The family with autosomal dominant retinitis pigmentosa (adRP) studied by Greenberg et al. (1994) was of British stock. The great-grandfather came to South Africa from Suffolk, England, in the mid-1800s. The onset of night blindness was between 4 and 10 years of age. By middle age, some patients had diffuse fundal changes and extensive retinal degeneration.
    • Retinitis Pigmentosa 23 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-23 (RP23) is caused by mutation in the OFD1 gene (300170) on chromosome Xp22. One such family has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hardcastle et al. (2000) studied a 5-generation family with an atypical form of retinitis pigmentosa (RP) in which onset of vision loss in males was unusually early, before 2 years of age, and female obligate carriers had normal fundi and waveforms. The proband presented with limited central vision and poor night vision at age 2 years. Upon examination he was able to fix and follow with both eyes; funduscopy showed abnormal grayish macular reflexes and extensive whitish-gray spots throughout the midperiphery of the posterior pole with some areas of coalescence.
    • Retinitis Pigmentosa Omim
      A number sign (#) is used with this entry because of the extensive genetic heterogeneity of nonsyndromic retinitis pigmentosa as well as the occurrence of retinitis pigmentosa with many generalized disorders. See INHERITANCE for a list of numbered and unnumbered forms of RP. Description Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900).
    • Retinitis Pigmentosa, Late-Adult Onset Omim
      Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. Bonneau et al. (1992) reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. Grondahl (1987) described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, Kaplan et al. (1990) found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered.
    • Retinitis Pigmentosa 38 Omim
      A number sign (#) is used with this entry because this form of retinitis pigmentosa (RP38) is caused by homozygous or compound heterozygous mutation in the MER tyrosine kinase protooncogene (MERTK; 604705) on chromosome 2q13. Description Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Gal et al. (2000) described 3 individuals with degenerative retinal disease who carried mutation in the MERTK gene (RP38).
    • Retinitis Pigmentosa 20 Omim
      A number sign (#) is used with this entry because autosomal recessive retinitis pigmentosa-20 (RP20) is caused by homozygous or compound heterozygous mutation in the RPE65 gene (180069) on chromosome 1p31. Mutations in the RPE65 gene also cause Leber congenital amaurosis (LCA2; 204100). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Gu et al. (1997) described a 5-generation consanguineous Indian family with 4 members with childhood-onset severe retinal dystrophy (RP20). Onset of severe visual impairment was between 3 and 7 years of age. Night blindness was a typical and early symptom in all patients.
    • Retinitis Pigmentosa 45 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-45 (RP45) is caused by homozygous mutation in the gene encoding the beta-1 subunit of the rod photoreceptor cyclic nucleotide-gated channel (CNGB1; 600724) on chromosome 16q21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Bareil et al. (2001) identified a consanguineous French family in which typical and severe retinitis pigmentosa segregated as an autosomal recessive trait in 3 affected individuals. The proband had night blindness since early childhood. Later, she experienced loss in the peripheral visual field. At 30 years of age, the fundus showed typical bone spicule-shaped pigmentary deposits.
    • Retinitis Pigmentosa 47 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-47 (RP47) is caused by homozygous mutation in the S-antigen gene (SAG; 181031) on chromosome 2q37. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Nakazawa et al. (1998) identified 3 unrelated patients with retinitis pigmentosa (RP47) who carried the same homozygous mutation in the SAG gene (181031.0001; see MOLECULAR GENETICS). Patient 1 had a sib with Oguchi disease (258100) associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with golden-yellow reflex in the peripheral fundus.
    • Retinitis Pigmentosa 44 Omim
      A number sign (#) is used with this entry because this form of retinitis pigmentosa is caused by homozygous or heterozygous mutation in the gene encoding the RPE-retinal G protein-coupled receptor (RGR; 600342) on chromosome 10q23. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Using a single-strand conformation technique, Morimura et al. (1999) searched for mutations in the exons and flanking intron sequences of RGR in 182 unrelated patients with dominantly inherited retinitis pigmentosa, 182 with recessive retinitis pigmentosa, 383 with simplex retinitis pigmentosa (sporadic cases), 45 with Leber congenital amaurosis (see 204000), 28 with retinitis punctata albescens (see 136880), 22 with choroidal sclerosis (see 303100), and approximately 95 normal controls. They identified 2 probands with mutations in the RGR gene. One proband with autosomal recessive RP had 4 affected sibs. All affected sibs (aged 35 to 44) had visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium (RPE), and intraretinal pigment deposits in the periphery.
    • Retinitis Pigmentosa 57 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-57 (RP57) is caused by homozygous mutation in the PDE6G gene (180073). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Dvir et al. (2010) studied an extended Israeli Muslim Arab pedigree segregating severe early-onset autosomal recessive retinitis pigmentosa in which affected individuals had markedly constricted visual fields, ranging from 10% to less than 5%, with tiny residual islands of central vision. Nevertheless, best-corrected visual acuity was relatively good. Both scotopic and photopic electroretinograms were severely reduced or completely extinct as early as 4 years of age. Funduscopy showed typical bone spicule-type pigment deposits spread mainly at the midperiphery, as well as optic disc pallor.
    • Retinitis Pigmentosa 4 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-4 (RP4) is caused by heterozygous, and rarely by homozygous, mutation in the RHO gene (180380) on chromosome 3q22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Bradley et al. (1989, 1989) reported a large 5-generation Irish family segregating autosomal dominant early-onset retinitis pigmentosa. Affected status was determined by using titally extinguished electroretinogram (ERG) and/or symptoms characteristic of RP, including nyctolopia and peripheral visual field loss. In addition, all affected individuals exhibited funduscopic disturbances typical of RP: disc pallor, attenuation of retinal vessels, and classic bone-spicule pigmentary deposits in the retinal periphery.
    • Cone-Rod Dystrophy 15 Omim
      A number sign (#) is used with this entry because this form of cone-rod dystrophy (CORD15) can be caused by homozygous mutation in the CDHR1 gene (609502) on chromosome 10q23. An adult-onset form of retinitis pigmentosa (RP65) can also be caused by homozygous mutation in the CDHR1 gene. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Cone-Rod Dystrophy 15 Ostergaard et al. (2010) studied 6 affected members of a 3-generation consanguineous pedigree from the Faroe Islands segregating autosomal recessive cone-rod dystrophy.
    • Leber Congenital Amaurosis 14 Omim
      A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-14 (LCA14) is caused by homozygous mutation in the LRAT gene (604863) on chromosome 4q32. Mutation in the LRAT gene can also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
    • Retinitis Pigmentosa 74 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-74 (RP74) is caused by homozygous or compound heterozygous mutation in the BBS2 gene (606151) on chromosome 16q13. Clinical Features Shevach et al. (2015) reported a Moroccan Jewish family in which 3 sibs had nonsyndromic retinitis pigmentosa. The proband received a diagnosis of RP at age 20 years following complaints of impaired night vision and constricted visual fields. At age 32, her electroretinographic responses were undetectable. At age 49, her visual acuity was at the level of hand motions, and posterior polar cataract and posterior subcapsular opacity were evident. Fundus findings were compatible with advanced RP, including moderate pallor of the optic disc, widespread atrophy, and pigmentary changes.
    • Retinitis Pigmentosa 51 Omim
      There were no signs of polydactyly or midline defects or facies reminiscent of BBS, and no evidence of developmental delay, appreciable cognitive impairment, or inappropriate social behavior. ... None of the affected individuals exhibited any extraocular characteristics of BBS, and thus were considered to represent nonsyndromic autosomal recessive RP with macular degeneration.
    • Retinitis Pigmentosa 54 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-54 (RP54) is caused by homozygous mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In a 4-generation consanguineous family with retinitis pigmentosa studied by Nishimura et al. (2010), the phenotype was variable in that 6 of 8 affected individuals had adult-onset RP, whereas 2 patients had a much earlier onset of disease, at less than 5 years of age, and had severe generalized dystrophy associated with nystagmus. Collin et al. (2010) described 4 Dutch sibs from a large pedigree, originally reported by Pinckers et al. (1973), segregating autosomal dominant granular corneal dystrophy, autosomal recessive retinal degeneration, and intermediately transmitted albinism. The 4 affected sibs were the only family members who manifested retinal degeneration, consisting of a photoreceptor dystrophy resembling RP or rod-cone dystrophy in most aspects.
    • Retinitis Pigmentosa, Y-Linked Omim
      Clinical Features Zhao et al. (1995) reported a 4-generation Chinese family in which retinitis pigmentosa affected only males. All sons of affected males were affected, but all 4 daughters of affected males (and all children of these daughters) were healthy. Inheritance According to Zhao et al. (1995) the probability of autosomal dominant inheritance in the family they reported is only 1:8,192. Therefore, the authors proposed Y-linked inheritance as a possible explanation for the pattern in this family. INHERITANCE - Y-linked HEAD & NECK Eyes - Retinitis pigmentosa MISCELLANEOUS - Based on 1 4-generation Chinese family - Limited clinical information provided ▲ Close
    • Retinitis Pigmentosa 46 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-46 (RP46) is caused by homozygous mutation in the isocitrate dehydrogenase 3B gene (IDH3B; 604526) on chromosome 20p13. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hartong et al. (2008) provided results of an ophthalmologic examination of 2 individuals with autosomal recessive IDH3B-related retinitis pigmentosa. The index case and the other individual, identified in a screen of patients with recessive or simplex retinitis pigmentosa, were evaluated at ages 47 and 38 years, respectively. Both had subnormal visual acuities, concentrically constricted visual fields, fundi typical of retinitis pigmentosa (pale optic discs, attenuated arterioles, and intraretinal pigment deposits), impaired dark adaptation, and reduced electroretinogram amplitudes indicating substantial loss of rod and cone photoreceptor function.
    • Retinitis Pigmentosa 79 Omim
      A number sign (#) is used with this entry because of evidence that autosomal dominant retinitis pigmentosa-79 (RP79) is caused by heterozygous mutation in the HK1 gene (142600) on chromosome 10q22. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Sullivan et al. (2014) studied a large 6-generation family (UTAD003) segregating autosomal dominant retinitis pigmentosa (adRP). The retinal dystrophy in the family could be traced back to an Acadian ancestor in the early 1800s, who was from the same region of south-central Louisiana where the family still lived. Affected members of the family exhibited a highly variable phenotype, with some reporting night blindness and/or patchy vision from early childhood, whereas others did not have discernible symptoms until well into the sixth or seventh decade of life.
    • Retinitis Pigmentosa 37 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-37 (RP37) is caused by heterozygous or homozygous mutation in the NR2E3 gene (604485) on chromosome 15q23. Mutation in the NR2E3 gene is also the cause of enhanced S-cone syndrome (ESCS; 268100). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Coppieters et al. (2007) described a 4-generation Belgian family which segregated autosomal dominant retinitis pigmentosa (adRP) in 25 individuals. The phenotype corresponded to that seen in classic adRP, with progressive degeneration of rods and subsequent involvement of cones, further characterized by progressive intraretinal pigment migration, generally of the spicular type.
    • Retinitis Pigmentosa Wikipedia
      Gradual retinal degeneration leading to progressive sight loss Retinitis pigmentosa Back of the eye of a person with retinitis pigmentosa, mid stage. Note pigment deposits in the mid periphery along with retinal atrophy . While the macula is preserved there is some loss of pigmentation around it. Specialty Ophthalmology Symptoms Trouble seeing at night , decrease peripheral vision [1] Usual onset Childhood [1] Causes Genetic [1] Diagnostic method Eye examination [1] Treatment Low vision aids , portable lighting, orientation and mobility training [1] Medication Vitamin A palmitate [1] Frequency 1 in 4,000 people [1] Retinitis pigmentosa ( RP ) is a genetic disorder of the eyes that causes loss of vision . [1] Symptoms include trouble seeing at night and decreased peripheral vision (side vision). [1] As peripheral vision worsens, people may experience " tunnel vision ". [1] Complete blindness is common. [2] Onset of symptoms is generally gradual and often in childhood. [1] [2] Retinitis pigmentosa is generally inherited from a person's parents . [1] Mutations in one of more than 50 genes are involved. [1] The underlying mechanism involves the progressive loss of rod photoreceptor cells in the back of the eye . [1] This is generally followed by loss of cone photoreceptor cells . [1] Diagnosis is by an examination of the retina finding dark pigment deposits. [1] Other supportive testing may include an electroretinogram , visual field testing , or genetic testing . [1] There is currently no cure for retinitis pigmentosa. [2] Efforts to manage the problem may include the use of low vision aids , portable lighting, or orientation and mobility training. [1] Vitamin A palmitate supplements may be useful to slow worsening. [1] A visual prosthesis may be an option in certain people with severe disease. [1] It is estimated to affect 1 in 4,000 people. [1] Contents 1 Signs and symptoms 2 Causes 2.1 Genetics 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Prognosis 7 Epidemiology 8 Research 9 Notable cases 10 See also 11 References 12 External links Signs and symptoms [ edit ] Example of tunnel vision (bottom) The initial retinal degenerative symptoms of retinitis pigmentosa are characterized by decreased night vision ( nyctalopia ) and the loss of the mid-peripheral visual field. [3] The rod photoreceptor cells, which are responsible for low-light vision and are orientated in the retinal periphery, are the retinal processes affected first during non-syndromic forms of this disease. [4] Visual decline progresses relatively quickly to the far peripheral field, eventually extending into the central visual field as tunnel vision increases. Visual acuity and color vision can become compromised due to accompanying abnormalities in the cone photoreceptor cells, which are responsible for color vision, visual acuity, and sight in the central visual field. [4] The progression of disease symptoms occurs in a symmetrical manner, with both the left and right eyes experiencing symptoms at a similar rate. [5] A variety of indirect symptoms characterize retinitis pigmentosa along with the direct effects of the initial rod photoreceptor degeneration and later cone photoreceptor decline.
    • Leber Congenital Amaurosis 4 Omim
      A number sign (#) is used with this entry because Leber congenital amaurosis-4 (LCA4) is caused by homozygous or compound heterozygous mutation in the gene encoding arylhydrocarbon-interacting protein-like-1 (AIPL1; 604392) on chromosome 17p13. Heterozygous mutation in the AIPL1 gene can cause juvenile retinitis pigmentosa and a form of cone-rod dystrophy. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005).
    • Retinitis Pigmentosa 61 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-61 (RP61) is caused by homozygous mutation in the CLRN1 gene (606397) on chromosome 3q25. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Khan et al. (2011) described 2 consanguineous Pakistani families segregating autosomal recessive retinitis pigmentosa. Analysis of the fundus of affected individuals of both families indicated attenuation of the retinal vessels, waxy appearance of the optic disc, and bone spicule pigmentation in the periphery of the retina. ERG analysis revealed that the scotopic responses, which are indicative of the activity of the rod photoreceptors, were more severely diminished than the photopic responses.
    • Retinitis Pigmentosa 12 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-12 (RP12) is caused by homozygous or compound heterozygous mutations in the CRB1 gene (604210) on chromosome 1q31. Homozygous or compound heterozygous mutation in CRB1 can also cause a more severe retinal dystrophy, Leber congenital amaurosis (LCA8; see 604210). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Heckenlively (1982) described 5 patients with retinitis pigmentosa of probable autosomal recessive inheritance who showed relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles and hypermetropia (RP patients tend to be myopic). Affected sibs and parental consanguinity were noted. Bleeker-Wagemakers et al. (1992) reported a consanguineous Dutch family of 90 members from a genetically isolated population in the north of the Netherlands.
    • Retinitis Pigmentosa 26 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-26 (RP26) is caused by homozygous or compound heterozygous mutation in the CERKL gene (608381), which encodes a ceramide kinase, on chromosome 2q31. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Bayes et al. (1998) performed linkage analysis in a large nuclear Spanish family with 5 sibs affected by autosomal recessive retinitis pigmentosa (arRP). After excluding several genomic regions containing loci for retinal dystrophies, a genomewide search for linkage was undertaken. Positive lod scores were obtained with markers on chromosome 2q31-q33, defining an interval of about 7 cM for this novel ARRP locus, designated RP26, between D2S148 and D2S161.
    • Retinitis Pigmentosa 62 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-62 (RP62) is caused by homozygous mutation in the MAK gene (154235) on chromosome 6p24. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Ozgul et al. (2011) studied 8 patients with retinitis pigmentosa who were found to have mutations in the MAK gene. The age at diagnosis in 3 patients was in the third decade of life, whereas the other 5 patients were diagnosed in the fourth through sixth decades of life. Visual acuity was relatively preserved, with 6 of the 8 patients having 20/40 acuity in at least 1 eye.
    • Retinitis Pigmentosa 49 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-49 (RP49) is caused by homozygous or compound heterozygous mutation in the alpha-1 cyclic nucleotide-gated channel gene (CNGA1; 123825) on chromosome 4p12. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics In a screen of 267 patients with autosomal dominant or autosomal recessive retinitis pigmentosa, Dryja et al. (1995) identified 4 probands with autosomal recessive RP carrying mutations in the CNCG1 (CNGA1) gene. Five mutant sequences cosegregated with the disease among 4 unrelated families with autosomal recessive RP. In 3 of the families, the affected individuals were either homozygous for a mutation or were compound heterozygotes.
    • Retinitis Pigmentosa Gard
      Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness . As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation.
    • Retinitis Pigmentosa 9 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-9 (RP9) is caused by heterozygous mutation in the RP9 gene (607331) on chromosome 7p14. One such patient has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Description Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992). Clinical Features Jay et al. (1992) described a 9-generation family (family N) with autosomal dominant retinitis pigmentosa.
    • Retinitis Pigmentosa 1 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-1 (RP1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the ORP1 gene (RP1; 603937) on chromosome 8q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Blanton et al. (1991) described a large extended American family (UCLA-RP01) segregating autosomal dominant retinitis pigmentosa with relatively late onset of night blindness, usually by the third decade of life, and with slow progression. Characteristic clinical findings included diffuse retinal pigmentation, progressive decrease in recordable ERGs, and concentric visual field loss. Funduscopic findings included retinal atrophy, bone-spicule-like pigment deposits, and vascular attenuation.
    • Retinitis Pigmentosa 58 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-58 (RP58) is caused by homozygous mutation in the ZNF513 gene (613598) on chromosome 2p23. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Naz et al. (2010) studied a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light perception or hand movement with no peripheral vision.
    • Retinitis Pigmentosa 50 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-50 (RP50) is caused by heterozygous mutation in the BEST1 gene (607854) on chromosome 11q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping In a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa, Davidson et al. (2009) performed linkage analysis and obtained a maximum lod score of 2.9 on chromosome 11; haplotype analysis revealed a 64.9-Mb critical region between markers rs536715 and rs17304039, containing the BEST1 gene. Molecular Genetics In the proband of a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 11, Davidson et al. (2009) sequenced the candidate gene BEST1 and identified heterozygosity for a missense mutation (I205T; 607854.0022) that was subsequently detected in 9 other affected family members and was absent from 5 unaffected family members. Analysis of BEST1 in a panel of 95 adRP patients who were negative for mutation in 10 known RP genes and in 12 patients with concentric RP revealed heterozygosity for a D228N missense mutation (607854.0023) in affected members of 1 adRP family and 1 concentric RP family, and heterozygosity for a Y227C mutation (607854.0024) in another concentric RP family.
    • Retinitis Pigmentosa 67 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-67 (RP67) is caused by homozygous mutation in the NEK2 gene (604043) on chromosome 1q32. One such family has been reported. Description Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms.
    • Retinitis Pigmentosa 77 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-77 (RP77) is caused by homozygous or compound heterozygous mutation in the REEP6 gene (609346) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Arno et al. (2016) examined the probands from 5 unrelated families with autosomal recessive retinitis pigmentosa. All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity.
    • Retinitis Pigmentosa 60 Omim
      A number sign (#) is used with this entry because retinitis pigmentosa-60 (RP60) can be caused by heterozygous mutation in the PRPF6 gene (613979) on chromosome 20q13.33. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Tanackovic et al. (2011) described the proband from a 4-generation family of European descent segregating autosomal dominant retinitis pigmentosa, who presented at 37 years of age for evaluation of decreased night vision and loss of peripheral vision. Funduscopy revealed bilateral normal discs with atrophy just temporal to the disc, clear macula, attenuated retinal arterioles, and bone spicule pigment all around the periphery. Reexamination almost 20 years later at 55 years of age demonstrated progression of disease, with decline in visual acuity to hand motions OD and 20/100 OS, as well as reductions in visual fields and full-field ERG amplitudes; funduscopy at that time showed waxy pallor of the discs bilaterally, atrophy of the retinal pigment epithelium and prominent choroidal vessels in each macula, attenuated retinal vessels, and bone spicule pigment visible in the midperiphery.
    • Retinitis Pigmentosa 56 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-56 (RP56) is caused by homozygous mutation in the gene encoding interphotoreceptor matrix proteoglycan-2 (IMPG2; 607056) on chromosome 3q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field loss, optic disc pallor, attenuated vessels, and bone-spicule-like pigmentation. In 11 of the 12 patients, lens abnormalities were observed: 7 had posterior subcapsular cataracts, 2 had mild cortical cataracts, 1 had pseudophakia, and 1 patient, who was diagnosed with mild maculopathy (see VMD5, 616152) rather than RP, had mild nuclear sclerosis.
    • Retinitis Pigmentosa Medlineplus
      Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye . In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light.
    • Retinitis Pigmentosa 76 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-76 (RP76) is caused by homozygous mutation in the POMGNT1 gene (606822) on chromosome 1p34. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Xu et al. (2016) studied an Italian sister and brother with retinitis pigmentosa. The 78-year-old sister, who became aware of nyctalopia and vision problems at age 12 years, showed visual acuity of 20/80 in the right eye and light-perception only in the left eye, constricted visual fields, and peripapillary atrophy; funduscopy revealed bone spicule pigmentation and attenuated retinal vessels. Her 69-year-old brother, who was aware of vision problems at age 10 years, had visual acuities of 20/100 and very restricted visual fields bilaterally, with bone spicules, narrow retinal vessels, peripapillary atrophy, and a tigroid appearance of the fundus.
    • Retinitis Pigmentosa 73 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-73 (RP73) is caused by homozygous mutation in the HGSNAT gene (610453) on chromosome 8p11. Mutation in the HGSNAT gene also causes mucopolysaccharidosis type IIIC (252930), the features of which include late-onset RP. Clinical Features Haer-Wigman et al. (2015) studied 3 affected individuals from 2 Ashkenazi Jewish Israeli families and 3 sibs from a Dutch family with nonsyndromic retinitis pigmentosa. All had night blindness and/or visual field loss as initial symptoms, but in the Israeli families, the 3 patients noted onset in childhood or adolescence and were diagnosed with RP in the fourth decade of life, whereas in the Dutch family, onset of symptoms did not occur until the fifth or sixth decade of life. The proband from the first Ashkenazi Jewish family was diagnosed at age 34 years, at which time full-field electroretinography (ERG) responses were undectectable.
    • Retinopathy, Pericentral Pigmentary, Dominant Omim
      Grondahl (1987) diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by Traboulsi et al. (1988); see 268060. Eyes - Pericentral retinal dystrophy - Pigmentary retinal degeneration - Night blindness - Late blindness - Bony spicule pigmentary retinopathy - Attenuation of retinal blood vessels - Retinal atrophy Inheritance - Autosomal dominant ▲ Close
    • Retinitis Pigmentosa 69 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-69 (RP69) is caused by homozygous or compound heterozygous mutation in the KIZ gene (615757) on chromosome 20p11. Description Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features El Shamieh et al. (2014) studied 3 unrelated patients with rod-cone dystrophy (retinitis pigmentosa) and mutations in the KIZ gene (see MOLECULAR GENETICS). All were diagnosed in their late teens on the basis of night blindness followed by changes in midperipheral visual fields and undetectable responses on full-field electroretinography by approximately 35 years of age.
    • Retinitis Pigmentosa 82 With Or Without Situs Inversus Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-82 with or without situs inversus (RP82) is caused by homozygous mutation in the ARL2BP gene (615407) on chromosome 16q13. Clinical Features Davidson et al. (2013) studied a consanguineous family of Arab Muslim origin in which 3 sibs were diagnosed with retinitis pigmentosa (RP) in their 20s, after complaints of night vision and visual field impairment. At 36 years of age, the oldest sib could detect hand motion with her right eye and had bare light perception with her left eye, with no significant refractive errors. Mild posterior subcapsular cataracts were present, and funduscopy revealed typical signs of RP, including optic disc pallor, mild to moderate bone-spicule-like pigmentation in the midperiphery, and attenuated retinal blood vessels. All 3 sibs displayed a marked component of macular atrophy, with smaller and larger atrophic patches, as well as epiretinal membranes with wrinkling of the retina.
    • Retinitis Pigmentosa 29 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Hameed et al. (2001) reported a 6-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years. Mapping By linkage analysis in a Pakistani family with arRP, Hameed et al. (2001) mapped the disease locus to chromosome 4q32-q34, with a maximum lod score of 3.76 for marker D4S415, with no recombination. Further analyses gave a probable disease interval of 4.6 cM between markers D4S3035 and D4S2417.
    • Retinitis Pigmentosa 32 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhang et al. (2005) identified a severe form of retinitis pigmentosa (RP) in a large consanguineous Pakistani family, in which all affected individuals had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration. Mapping After exclusion of known RP loci in a consanguineous Pakistani family, Zhang et al. (2005) performed a genomewide scan which showed linkage to markers in a 10.5-cM region of chromosome 1p21.2-p13.3, between D1S2896 and D1S457. The highest lod score, 6.54 at theta = 0.0, was obtained at D1S485. Zhang et al. (2005) noted that this locus, designated RP32, lies approximately 4.9 cM from the ABCA4 gene (601691), which was excluded from the linked region.
    • Retinitis Pigmentosa 7 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-7 (RP7) is caused by heterozygous mutation in the RDS gene (PRPH2; 179605) on chromosome 6p21. Homozygous mutation in the PRPH2 gene causes retinal dystrophy of earlier onset, diagnosed clinically as Leber congenital amaurosis (LCA18). One patient was reported to have juvenile retinitis pigmentosa. Heterozygous mutation in the PRPH2 gene has also been reported to cause various retinal disorders with overlapping or related phenotypes, e.g., retinitis punctata albescens (see 136880), central areolar choroidal dystrophy (CACD2; 613105), vitelliform macular dystrophy-3 (VMD3; 608161), and patterned macular dystrophy (169150). A digenic form of retinitis pigmentosa resulting from a mutation in the RDS gene (179605.0004) and a null mutation of the ROM1 gene (see 180721.0001) has been reported. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000; for Leber congenital amaurosis, see 204000.
    • Retinitis Pigmentosa 2 Omim
      A number sign (#) is used with this entry because X-linked retinitis pigmentosa-2 (RP2) is caused by mutation in the RP2 gene (300757) on chromosome Xp11. Description Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features The X-linked form of retinitis pigmentosa is also called choroidoretinal degeneration, or pigmentary retinopathy.
    • Retinitis Pigmentosa 43 Omim
      A number sign (#) is used with this entry because this form of retinitis pigmentosa (RP43) is caused by homozygous or compound heterozygous mutation in the PDE6A gene (180071), encoding the alpha subunit of cGMP phosphodiesterase, on chromosome 5q31-q33. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Huang et al. (1995) studied 2 unrelated families segregating autosomal recessive retinitis pigmentosa (RP). Affected individuals reported night blindness since early childhood. Visual field testing revealed marked peripheral field loss. Fundus examination showed abnormalities typical of RP including waxy pallor of the optic discs, attenuated retinal vessels, Corton et al. (2010) described a 5-generation consanguineous Spanish pedigree segregating autosomal recessive RP, in which 3 sibs and their nephew exhibited common symptoms such as bilateral vision impairment and night blindness from early childhood, abolished electroretinogram (ERG) responses, and fundus features typically associated with RP, including optic disc pallor, attenuated vessels, and intraretinal clumping of pigment.
    • Retinitis Pigmentosa 33 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-33 (RP33) is caused by heterozygous mutation in the SNRNP200 gene (601664) on chromosome 2q11. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhao et al. (2006) reported a Chinese family in which 13 members spanning 4 generations developed retinitis pigmentosa in an autosomal dominant pattern of inheritance. Affected individuals developed night blindness at about 16 to 18 years of age. Subsequently, visual acuity gradually decreased with accompanying progressive loss of peripheral visual fields.
    • Retinitis Pigmentosa 3 Omim
      Cytogenetics Francke et al. (1985) studied a male patient ('patient BB') with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency (CGD; 306400) and McLeod red cell phenotype (300842), Duchenne muscular dystrophy (DMD; 310200), and retinitis pigmentosa. ... A recombination proximal to DXS1110 (between markers DXS8349 and M6) was found in 1 patient with RP3, placing the mutation locus outside the deletion breakpoint, located about 40 kb centromeric to DXS11110, of patient BB reported by Francke et al. (1985). ... It is also the locus presumably deleted in BB, the boy with RP, Duchenne muscular dystrophy, chronic granulomatous disease, and McLeod syndrome (Francke et al., 1985).
    • Retinitis Pigmentosa 27 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-27 (RP27) is caused by heterozygous mutation in the neural retina leucine zipper gene (NRL; 162080) on chromosome 14q11. One family with a clinical diagnosis of clumped pigment-type retinal degeneration has been reported with compound heterozygous mutation in the NPL gene. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In a large 3-generation British family (RP251) segregating autosomal dominant retinitis pigmentosa, Bessant et al. (1999) excluded previously identified autosomal dominant loci and identified a heterozygous mutation in the NRL gene (S50T; 162080.0001) in affected members. Bessant et al. (2000) identified 3 other British RP families who carried the same mutation and determined that all 4 families were descended from a common founder.
    • Retinitis Pigmentosa 84 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-84 (RP84) is caused by homozygous mutation in the DHX38 gene (605584) on chromosome 16q22. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Ajmal et al. (2014) reported 4 affected sibs from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma. All of the sibs had developed night blindness at 4 years of age, and all were completely blind (no light perception). Funduscopic examination of the proband showed severely attenuated retinal vessels throughout the fundus, and the maculae were severely affected bilaterally, with unusually prominent and deep macular colobomas devoid of neuroretinal tissue.
    • Retinitis Pigmentosa 63 Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Kannabiran et al. (2012) described a large Indian family in which 14 of 34 individuals studied had retinitis pigmentosa. Age at presentation ranged from 16 to 65 years, and in most cases the initial symptoms consisted of night blindness associated with blurred vision. Fundus examination revealed a range of features, including degeneration of the retinal pigment epithelium (RPE) to varying extents, arterial attenuation, disc pallor, and pigment migration. Electroretinography (ERG) showed diminished or extinguished responses.
    • Retinitis Pigmentosa 36 Omim
      A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-36 (RP36) is caused by homozygous mutation in the PRCD gene (610598) on chromosome 17q25. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zangerl et al. (2006) examined a 32-year-old woman from Bangladesh who first noticed difficulty seeing at night as a child. Funduscopic examination revealed optic discs with fairly normal color but markedly attenuated arterioles. Extensive bone-spicule-like pigmentation was present in all 4 quadrants of both eyes, with highest density at the equator, and was admixed with lighter colored deposits at the level of the retinal pigment epithelium.
  • Sneddon Syndrome Gard
    It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities.
    ADA2, ADA, ARSA
    • Sneddon Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Sneddon syndrome (SNDNS) is caused by compound heterozygous mutation in the CECR1 gene (ADA2; 607575) on chromosome 22q11. One such family has been reported. Mutation in the ADA2 gene can also cause vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS; 615688), which shows earlier onset. Description Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). Clinical Features Sneddon (1965) described 6 patients (5 females, 1 male), varying in age from 20 to 48 years, who had association of livedo reticularis with cerebrovascular accident.
    • Sneddon's Syndrome Wikipedia
      Sneddon syndrome Other names Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome [1] This condition is inherited in an autosomal recessive manner [2] Specialty Rheumatology Sneddon's syndrome [1] is a form of arteriopathy characterized by several symptoms, including: Severe, transient neurological symptoms or stroke Livedo reticularis , or livedo racemosa Contents 1 Signs and symptoms 2 Pathogenesis 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Sneddon's syndrome generally manifests with stroke or severe, transient neurological symptoms, and a skin rash ( livedo reticularis ). Livedo reticularis appears as a bluish-purple, netlike mottling of the skin. Sneddon's syndrome may instead present with livedo racemosa , which involves larger, less organized patches of bluish-purple mottling of the skin. Both are generally found first in the extremities, both worsen in cold and either may occur without Sneddon's Syndrome or any other systemic disease. [ citation needed ] Sneddon's Syndrome can be characterized by: transient amnesia , transient aphasia , palsy , headaches , hypertension, transient ischemic attacks (TIA), stroke , [3] coronary disease and dementia. [4] The skin manifestations may precede the neurologic symptoms by years. [3] Pathogenesis [ edit ] Sneddon's syndrome is a progressive, noninflammatory arteriopathy leading to the characteristic skin condition and to cerebrovascular problems, including stroke, transient ischemic attack (TIA), severe but transient neurological symptoms thought to be caused by cerebral vasospasm, coronary disease and early-onset dementia. Progressive compromise of arterial linings in Sneddon's produces clotting, for which high-dose warfarin is most commonly prescribed, and can also cause the development of systemic arterial plaque when cholesterol levels are normal. [ citation needed ] Diagnosis [ edit ] There are no diagnostic tests on which all Sneddon's patients will have abnormal results, although brain MRI and skin biopsy are often abnormal.
    • Adenosine Deaminase 2 Deficiency Medlineplus
      Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life.
    • Sneddon Syndrome Orphanet
      Clinical description The mean age of onset of neurological symptoms is 39 years, though the livedo is generally observed up to 10 years earlier and sometimes since childhood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting primarily the legs and arms, but also involving the buttocks and the trunk, and that is exacerbated by cold or pregnancy.
  • Nijmegen Breakage Syndrome Omim
    Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT; 208900), but NBS/BBS patients have a distinct clinical phenotype. ... Saar et al. (1997) performed a whole-genome screen in 14 NBS/BBS families and localized the causative gene to a 1-cM interval on 8q21, between markers D8S271 and D8S270, with a peak lod score of 6.86 at D8S1811. This marker also showed strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. The authors stated that since the same allele is seen in both complementation groups, genetic homogeneity of NBS/BBS can be considered as proved. Matsuura et al. (1997) used microcell-mediated chromosome transfer followed by complementation assays based on radiosensitivity to demonstrate that only chromosome 8 complements the sensitivity to ionizing radiation in NBS cell lines.
    NBN, TP53, MRE11, ATM, NLRP2, RAD50, NME1, MKKS, BRCA1, LIG4, MYC, PTEN, PARP1, XRCC1, XRCC3, SIRT1, TMED3, UBASH3B, BBS12, MDM2, H3P22, XRCC6, ANXA6, ATR, BBS1, MS4A1, IKZF1, TBPL1, POLQ, KLF4, BBS4, SLC12A9, BBS2, CBX5, RAD54B, IFT172, PHGDH, HCAR1, KRT20, BBS7, IGF1, MRPL36, MIB1, CDKN1A, MCPH1, LIN28A, BBS10, NHEJ1, NANOG, BRIP1, ARL6, ARID5B, TTC8, PEG13, XRCC6P5, POU5F1P3, POU5F1P4, SMC1A, CDKN2A, IGF1R, KMT2A, PECAM1, PDGFRB, TNFRSF11B, FANCD2, FANCB, FANCF, H2AX, PIK3CB, IDH1, LCK, KPNA2, IL18, IL5, IL2, PIK3CA, PIK3CD, COL11A2, TERF2, XPC, VEGFA, TRH, ELANE, TMPRSS2, TERT, TERF1, PIK3CG, AFP, SOX2, RAD52, ERG, POU5F1, POLH, TRBV20OR9-2
    • Nijmegen Breakage Syndrome Gene_reviews
      Summary Clinical characteristics. Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time and most children tested after age seven years have mild to moderate intellectual disability. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Approximately 40% of affected individuals have developed malignancies before age 20 years, with the risk being highest for T-cell (55%) and B-cell lymphomas (45%).
    • Nijmegen Breakage Syndrome Orphanet
      Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. Epidemiology Prevalence and incidence are not known. 150 patients have been reported in the literature but many more are recorded in patient registries. The disease seems to occur worldwide, but has a much higher prevalence among Central and Eastern European Slavic populations due to a founder mutation. Clinical description Clinical manifestations are not pathognomonic and may vary in severity. The main signs are microcephaly, present at birth and progressing with age, dysmorphic facial features (prominent midface emphasized by a sloping forehead and receding mandible).
    • Nijmegen Breakage Syndrome Medlineplus
      Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. People with this condition typically grow slowly during infancy and early childhood. After this period of slow growth, affected individuals grow at a normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of affected individuals. The head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly).
    • Nijmegen Breakage Syndrome Wikipedia
      "Berlin Syndrome" redirects here. For the film, see Berlin Syndrome (film) . Nijmegen breakage syndrome Other names Berlin breakage syndrome , Ataxia telangiectasia variant 1 and Seemanova syndrome , [1] Nijmegen breakage syndrome has an autosomal recessive pattern of inheritance Specialty Endocrinology Nijmegen breakage syndrome ( NBS ), is a rare autosomal recessive [2] congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination ). [3] NBS1 codes for a protein ( nibrin ) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia , Cockayne syndrome .) The name derives from the Dutch city Nijmegen , where the condition was first described. [4] Most people with NBS have West Slavic origins . The largest number of them live in Poland . Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Prognosis 6 References 7 External links Presentation [ edit ] It is characterized by microcephaly , a distinct facial appearance, short stature, immunodeficiency , radiation sensitivity and a strong predisposition to lymphoid malignancy. [5] [6] NBS is caused by a mutation in the NBS1 gene.
  • Mosquito Bites Mayo_clinic
    Avoid and exclude mosquitoes Limit exposure to mosquitoes by: Repairing any tears in the screens on windows, doors and camping gear Using mosquito netting over strollers and cribs Using mosquito netting when sleeping outdoors Selecting self-care products that don't have scents Use insect repellent Use insect repellent when mosquitoes are active. ... Some sporting goods stores sell clothing pretreated with permethrin. Don't wash bed nets or set them in sunlight, as this breaks down permethrin.
  • Hiv/aids In Uganda Wikipedia
    In Uganda, it is more practical being the recognition by the (public) government and (public) donor that a (private) philanthropic health facility can receive free test kits for HIV screening, free mosquito nets and water purification to reduce opportunistic infections and free testing and treatment for basic infections of great danger to PLHA. [24] Alternative proposals [ edit ] Several studies, conducted in Uganda and its neighbors, indicate that adult male circumcision may be a cost-effective means of reducing HIV infection. ... The national AIDS Indicator survey in 2011 also indicated that over 48 percent of adult men were willing to be circumcised, generating a critical mass of demand for male circumcision. [26] An economic analysis by Bertran Auvert, a physician from the INSERM U687, Saint-Maurive, France, and colleagues estimated the cost of a roll-out over an initial 5-year period would be $1036 million ($748 – $1319 million) and $965 million ($763 – $1301 million) for private and public health sectors, respectively. The cumulative net cost over the first 10 years was estimated at $1271 million and $173 million for the private and public sectors, respectively. [27] See also [ edit ] HIV/AIDS in Africa Health in Uganda Gideon Byamugisha Noerine Kaleeba Joseph Konde-Lule Philly Lutaaya Roy Mugerwa Fred Nalugoda Sex for Fish Traditional and Modern Health Practitioners Together against AIDS Uganda AIDS Orphan Children Foundation Notes and references [ edit ] ^ Peter Kitonsa Ssebbanja (2007). "4". ... Journal of Acquired Immune Deficiency Syndromes . 37 (1): 1180–6. doi : 10.1097/01.qai.0000127063.76701.bb . PMID 15319679 . ^ "The Gap Report" (PDF) .
  • Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome Omim
    The phenotype was similar to Bardet-Biedl syndrome (BBS; 209900) and Cohen syndrome (COH1; 216550) but could be distinguished by the age of onset and nonprogressive nature of the visual impairment, and the lack of several characteristics, including dysmorphic facies, skin or gingival infection, microcephaly, 'mottled retina,' polydactyly, and testicular anomalies.
    INPP5E, BBS5
    • Morm Syndrome Wikipedia
      MORM syndrome Other names Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome The image shows chromosome 9. The location of the INPP5E gene has been identified in this image and is relevant as it has been associated with MORM syndrome. The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3. MORM syndrome is an autosomal recessive congenital disorder [1] characterized by mental retardation , truncal obesity, retinal dystrophy , and micropenis ". [1] The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome , both of which are autosomal recessive genetic disorders. [1] [2] MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. [1] The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. [3] Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905. [4] Contents 1 Presentation 2 Genetic 3 Diagnosis 4 Management 5 References 6 External links Presentation [ edit ] For individuals with MORM syndrome, symptoms do not appear until about one year of age. [1] From conception to birth, individuals with MORM syndrome appear asymptotic, with no abnormal characteristics. [1] Vision is negatively affected within the first year of life, particularly night vision. [1] Individuals with MORM syndrome experience decreased visual acuity , meaning their ability to see distinct sharp lines decreases. [1] [5] Vision quality continues to deteriorate until age three. [1] Any further reduction in vision acuity is not observed until the individual is between the ages thirty to forty. [1] Delayed sentence processing and intellectual disability is associated with individuals with MORM syndrome, primarily observed at age four. [1] Individuals continue to develop and grow until they are five to twelve years old.
    • Morm Syndrome Orphanet
      A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.
  • Martorell's Ulcer Wikipedia
    "Topical Treatment of Hypertensive Leg Ulcers With Platelet-Derived Growth Factor-BB A Randomized Controlled Trial" . Archives of Dermatology . 147 (8): 926–930. doi : 10.1001/archdermatol.2011.84 .
  • Clanging Wikipedia
    . ^ Spitzer, Manfred (1999). The mind within the net: Models of learning, thinking, and acting .
  • Chronic Hallucinatory Psychosis Wikipedia
    Others, again, might be swept into the widespread net of dementia praecox . This state of affairs cannot be regarded as satisfactory, for they are not truly cases of melancholia, paranoia, dementia praecox or any other described affection.
  • Esophageal Food Bolus Obstruction Wikipedia
    ] and the use of large-bore tubes inserted into the esophagus to forcefully lavage it. [17] [ unreliable medical source? ] Endoscopic [ edit ] The Roth net can be inserted through the endoscope to remove pieces of the obstructed food. ... Traditional endoscopic techniques involved the use of an overtube, a plastic tube inserted into the esophagus prior to the removal of the food bolus, in order to reduce the risk of aspiration into the lungs at the time of endoscopy. [7] However, the "push technique", which involves insufflating air into the esophagus, and gently pushing the bolus toward the stomach instead, has emerged as a common and safe way of removing the obstruction. [7] [18] Other tools may be used to remove food boluses. The Roth Net is a mesh net that can be inserted through the endoscope, and opened and closed from the outside; it can be used to retrieve pieces of obstructed food.
  • Mosquito-Borne Disease Wikipedia
    Depending on the mosquito vector, and the affected community, a variety of prevention methods may be deployed at one time. Insecticidal nets and indoor residual spraying [ edit ] The use of insecticide treated mosquito nets (ITNs) are at the forefront of preventing mosquito bites that cause malaria. ... Because the Anopheles gambiae feeds indoors (endophagic) and rests indoors after feeding (endophilic), insecticide treated nets (ITNs) interrupt the mosquito's feeding pattern. The ITNs continue to offer protection, even after there are holes in the nets, because of their excito-repellency properties which reduce the number of mosquitoes that enter the home. ... Infected individuals should avoid mosquito exposure by staying indoors or using a mosquito net . [34] Dengue fever [ edit ] Dengue infection's therapeutic management is simple, cost effective and successful in saving lives by adequately performing timely institutionalized interventions. ... "The Impact of Pyrethroid Resistance on the Efficacy of Insecticide-Treated Bed Nets against African Anopheline Mosquitoes: Systematic Review and Meta-Analysis" .
  • Meckel Syndrome, Type 1 Omim
    Karmous-Benailly et al. (2005) speculated that fetuses with an antenatal diagnosis of Meckel or 'Meckel-like' syndrome (see 208540), because of the presence of cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele, might be instances of Bardet-Biedl syndrome (BBS; 209900). They sequenced the 8 BBS genes in a series of 13 such cases. In 6, they identified a recessive mutation in a BBS gene: 3 in BBS2 (606151), 2 in BBS4 (600374), and 1 in BBS6 (604896). ... The results indicated that the antenatal presentation of BBS may mimic Meckel syndrome. Inheritance Numerous examples of affected sibs, concordance in presumedly monozygotic twins (Stockard, 1921), roughly equal occurrence in males and females, and parental consanguinity in some instances (Tucker et al., 1966; Walbaum et al., 1967) make autosomal recessive inheritance quite certain.
    TMEM67, CEP290, MKS1, CC2D2A, TMEM231, RPGRIP1L, B9D1, TCTN2, CSPP1, CEP55, WDPCP, TMEM216, RPGRIP1, TMEM107, B9D2, TXNDC15, EXOC3L2, EXOC4, EVC2, TMEM237, LPO, MARK4, TMEM138, KIAA0586, TCTN1, JBS
    • Meckel Syndrome, Type 11 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome type 11 (MKS11) is caused by homozygous mutation in the TMEM231 gene (614949) on chromosome 16q23. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected pregnancy was complicated by oligohydramnios; prenatal ultrasound showed occipital encephalocele, polydactyly, and polycystic kidney. An unrelated fetus of Arab origin with a similar phenotype was also reported.
    • Cerebrorenodigital Syndrome With Limb Malformations And Triradiate Acetabula Omim
      Franceschini et al. (2004) observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; 249000), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. Franceschini et al. (2004) noted that although short and bowed limbs are seen in about 15% of MKS cases (Majewski et al., 1983), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.
    • Meckel Syndrome 13 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome-13 (MKS13) and Joubert syndrome-29 (JBTS29) are caused by homozygous or compound heterozygous mutation in the TMEM107 gene (616183) on chromosome 17p13. One patient with JBTS29 has been reported. Mutation in the TMEM107 gene can also cause OFD16 (617563). For discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). Clinical Features Shaheen et al. (2015) reported 2 unrelated consanguineous Saudi families in which 4 infants had MKS.
    • Meckel Syndrome, Type 3 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome type 3 (MKS3) is caused by homozygous or compound heterozygous mutation in the TMEM67 gene (609884) on chromosome 8q22. Description Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Morgan et al. (2002) stated that comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2 (603194)-linked kindreds suggested that polydactyly, and possibly encephalocele, are less common in MKS3-linked families. Consugar et al. (2007) observed that polydactyly and occipital encephalocele were less common in MKS3 compared to MKS1.
    • Meckel Syndrome, Type 2 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome type 2 (MKS2) is caused by homozygous mutation in the TMEM216 gene (613277) on chromosome 11q12. Mutation in the TMEM216 gene also causes Joubert syndrome type 2 (JBTS2; 608091). Description Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). Clinical Features Valente et al. (2010) reported 3 fetuses from 2 Tunisian families with Meckel syndrome-2.
    • Meckel Syndrome Orphanet
      Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Epidemiology Prevalence is estimated at 1/50,000 births in Europe. Worldwide prevalence is reported to be 1/13,250 to 1/140,000 live births. The live-birth prevalence is significantly higher in the Finnish population (1/9,000), Belgian and Kuwaiti Bedouin populations (1/3,500), and Gujarati Indians (1/1,300). No gender or ethnic predilection is reported. Clinical description Fetuses affected by MKS survive only a few days to a few weeks at the most, or die in utero . The main CNS features include occipital encephalocele, hydrocephalus, anencephaly, holoprosencephaly, as well as Dandy-Walker.
    • Meckel Syndrome Gard
      Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.
    • Meckel Syndrome, Type 9 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome-9 (MKS9) can be caused by compound heterozygous mutation in the B9D1 gene (614144) on chromosome 17p11.2. One such family has been reported. Description Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Hopp et al. (2011) reported a fetus with Meckel syndrome who was found by ultrasound at 13 weeks' gestation to have posterior encephalocele and abnormal posterior fossa, bilaterally enlarged multicystic dysplastic kidneys, and no bladder. Polydactyly was not noted, but the fetus had bilateral clubfeet and shortened limbs.
    • Meckel Syndrome, Type 5 Omim
      A number sign (#) is used with this entry because Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12. For a general description of Meckel syndrome, see MKS1 (249000). See also Joubert syndrome-7 (JBTS7; 611560), an allelic disorder with a less severe phenotype. Clinical Features Delous et al. (2007) reported 3 fetuses with Meckel syndrome diagnosed at 15 to 16 weeks' gestation by ultrasound. Two were sibs of Moroccan origin. Ultrasound and post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, severe cystic kidney disease, and hepatic bile duct proliferation, and bowing of the long bones. Molecular Genetics In 3 fetuses with Meckel syndrome type 5, Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007) that all resulted in complete loss of protein function.
    • Meckel Syndrome, Type 8 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome-8 (MKS8) is caused by homozygous mutation in the TCTN2 gene (613846) on chromosome 12q24.31. One such family has been reported. Description Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Shaheen et al. (2011) described a multiplex consanguineous Saudi family in which 5 individuals had Meckel-Gruber syndrome defined as the presence of encephalocele and any of the following: biliary ductal dysplasia, renal dysplasia, or polydactyly.
    • Meckel Syndrome, Type 4 Omim
      A number sign (#) is used with this entry because of evidence that Meckel syndrome type 4 (MKS4) is caused by homozygous or compound heterozygous mutation in the CEP290 gene (610142) on chromosome 12q21. Description Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Frank et al. (2008) reported a consanguineous family of Kosovar Albanian origin in which 2 male fetuses were found to have ultrasonographic features of Meckel syndrome. Both pregnancies were terminated. Postmortem examination showed enlarged cystic dysplastic kidneys, hepatobiliary ductal plate malformation, postaxial polydactyly, and occipital meningoencephalocele with massively malformed brain.
    • Meckel Syndrome, Type 6 Omim
      A number sign (#) is used with this entry because Meckel syndrome type 6 (MKS6) is caused by homozygous mutation in the CC2D2A gene (612013) on chromosome 4p15. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Tallila et al. (2008) reported the clinical features of probands from 11 Finnish families with Meckel syndrome. All fetuses had occipital encephalocele and large cystic kidneys. Most also had polydactyly of the hands and feet, clubfeet, fibrotic or cystic changes in the liver, and hypoplastic lungs. Less common features included cleft lip/palate, anencephaly, and gonadal abnormalities.
  • Dogger Bank Itch Wikipedia
    In Dogger Bank itch, sensitivity is acquired after repeated handling of the sea chervils that become entangled in fishing nets. [ citation needed ] The specific toxin responsible for the rash was determined to be the sulfur -bearing salt (2-hydroxyethyl) dimethylsulfoxonium chloride. [3] This salt is also found in some sea sponges and has potent in vitro activity against leukemia cells. [4] Treatment [ edit ] A study of two cases in 2001 suggests that the rash responds to oral ciclosporin . ... The sea chervil, abundant in the area, frequently came up with the fishing nets and had to be thrown back into the water.
  • Uric Acid Concentration, Serum, Quantitative Trait Locus 1 Omim
    Evidence for both an increased rate of uric acid synthesis and an impaired net elimination of uric acid by the kidney has been advanced. ... Autosomal dominant form Lab - Increased rate of uric acid synthesis - Impaired net elimination of uric acid by the kidney - Hyperuricemia Skin - Urate tophi ▲ Close
    ABCG2
  • Osteopetrosis, Autosomal Dominant 2 Omim
    Biochemical Features Yoneyama et al. (1989) found elevated creatine kinase of the so-called BB type (CKB; 123280) in 3 adults with osteopetrosis. Yoneyama et al. (1992) demonstrated marked elevation of BB isozyme fraction of serum creatine kinase for male sibs with this disorder. ... Individuals with autosomal dominant osteoporosis type II (OPTA2) have elevated serum levels of tartrate-resistant acid phosphatase (TRAP; 171640) and the BB isoenzyme of creatine kinase (CKBB).
    CLCN7, TNFSF11, FERMT3, IFNG
    • Albers-Schönberg Osteopetrosis Orphanet
      A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Epidemiology The prevalence is estimated to be 1/20,000. Clinical description Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. Cranial nerve compression is a rare but important complication, with hearing and visual loss affecting around 5% of individuals. Moderate bone marrow failure is described occasionally. Etiology The disease is caused by heterozygous mutations in the chloride channel 7 ( ClCN7 ) gene (16p13).
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