��-��-��700bet.net��-��-PC��-��52bet.net��-��-��-��28��-(��bet25.net��)

Premature Chromatid Separation Trait OMIM

MVA occurs when the offspring of 2 parents heterozygous for the PCS trait inherits both mutant BUB1B alleles. ... Several references listed in this entry (e.g., Rudd et al., 1983; Gabarron et al., 1986) have incorrectly used the designation PCD when referring to PCS. To avoid confusion, we have changed the designation to PCS in our discussion of these references. ... Petkovic (2007) reported a 3-generation family with autosomal dominant inheritance of PCS. Cytogenetic studies on peripheral blood lymphocytes demonstrated PCS frequency of 8.5% to 13.5% in 4 affected members. ... The father and mother had 6.5% and 16% PCS in cultured lymphocytes, respectively, consistent with heterozygosity for the PCS trait. Amniocentesis at 16 weeks in a subsequent pregnancy showed 4.5% cells in PCS and a nonmosaic 46,XY karyotype, also consistent with a heterozygous carrier of the PCS trait.

BUB1B, PAK6, BUB1B-PAK6, CNTN3, CHI3L1, CSF2, ENO1, GFAP, GCLC, HCFC1, CD40LG, LAMC2, SMS, UGCG, CDC20, ZBP1, RSS, ZFPM2-AS1, HTR1A

Pachyonychia Congenita GeneReviews

Diagnosis/testing. PC is diagnosed by clinical findings and/or by the identification of a heterozygous pathogenic variant in one of the five keratin genes known to cause PC: KRT6A , KRT6B , KRT6C , KRT16 , and KRT17 . ... Nomenclature Based on data from the International Pachyonychia Congenita Research Registry (IPCRR), the most recent classification for pachyonychia congenita is by mutated gene [McLean et al 2011, Wilson et al 2011]: PC-K6a (caused by pathogenic variants in KRT6A ) PC-K6b (caused by pathogenic variants in KRT6B ) PC-K6c (caused by pathogenic variants in KRT6C ) PC-K16 (caused by pathogenic variants in KRT16 ) PC-K17 (caused by pathogenic variants in KRT17 ) The classification suggested for PC prior to the identification of the genetic basis of the disease was based solely on clinical findings. Historically, the two major subtypes of PC were based on subtle variable phenotypic features (primarily on the presence or absence of pilosebaceous cysts and natal or prenatal teeth) [Leachman et al 2005, Liao et al 2007]: PC-1 (Jadassohn-Lewandowski syndrome) PC-2 (Jackson-Lawler syndrome) With detailed clinical histories and pathogenic variants identified in an increasing number of people with PC, it became clear that the older classification of PC-1 and PC-2 was not applicable to the broader population of individuals with PC. ... The International PC Research Registry has identified 774 individuals in 419 families with genetically confirmed PC. ... Familial onychogryphosis without the associated palmoplantar keratoderma or other features of PC can be confused with PC. Individuals who have nail findings only are unlikely to have a pathogenic variant in one of the PC-related genes.

KRT17, KRT16, KRT6A, KRT6B, KRT10, KRT6C, KRT80, SLURP1, PNOC, NFE2L2, AQP5, FLG, KRT1, KLKB1, GJB2, GABPA, MTOR, KRT9

Pachyonychia Congenita 4 OMIM

Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (Eliason et al., 2012) and PC-K6b (Shah et al., 2014).
Pachyonychia Congenita Orphanet

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. ... Excessive sweating of palms and soles due to palmoplantar hyperhydrosis, widespread steatocystomas appearing during or after puberty, axillary and inguinal cysts, hoarseness in young children are other findings observed in some PC patients. Etiology Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant negative mutations in at least 4 genes [ KRT6A , KRT6B (12q13.13), KRT16 , KRT17 (17q21.2)] encoding keratins preferentially expressed in basal and suprabasal layers of palmoplantar skin, epidermal appendages and oral mucosa. ... Management and treatment There is no curative treatment for PC yet. Treatment of manifestations will focus primarily on grooming of nails and management of pain due to palmoplantar keratoderma: it includes the use of emollients to reduce hyperkeratosis and strategies to limit frictions and trauma of the feet.
Pachyonychia Congenita GARD

Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. ... Features may vary among affected people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC- K6a , PC- K6b , PC- K6c , PC- K16 , and PC- K17 .
Pachyonychia Congenita, Autosomal Recessive OMIM

For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
Pachyonychia Congenita 3 OMIM

Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT6A gene, here designated PC3, has also been designated PC-6a (Eliason et al., 2012) and PC-K6a (Shah et al., 2014).
Pachyonychia Congenita 2 OMIM

Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT17 gene, here designated PC2, has also been designated PC-17 (Eliason et al., 2012) and PC-K17 (Shah et al., 2014).
Pachyonychia Congenita 1 OMIM

Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. ... See 260130 for a possible autosomal recessive form of pachyonychia congenita. Nomenclature The form of PC caused by mutation in the KRT16 gene, here designated PC1, has also been designated PC-16 (Eliason et al., 2012) and PC-K16 (Shah et al., 2014).

Posterior Cord Syndrome Wikipedia

Human spinal cord disorder Posterior cord syndrome 5: posterior spinal arteries Posterior cord syndrome (PCS) , also known as posterior spinal artery syndrome (PSA), is a type of incomplete spinal cord injury . [1] PCS is the least commonly occurring of the six clinical spinal cord injury syndromes , with an incidence rate of less than 1%. ... In addition, the demographics of patients suffering from PCS are widespread as the onset of symptoms typically follows a traumatic event. Additionally, research has suffered setbacks because PCS is extremely rare with few documented cases, unlike anterior spinal cord injury. [1] [3] [9] However, ongoing research has helped in differentiating PCS from other brain injuries. Therefore, better therapies for PCS treatment can be developed. For instance, one study suggests that a tissue plasminogen activator (tPA) therapy intervention, commonly used in stroke patients, [10] may aid in treating patients with symptoms of PCS. [11] References [ edit ] ^ a b c d "Incomplete Spinal Cord Injury" . ... Archived from the original (PDF) on 28 March 2018 . Retrieved 27 March 2018 . ^ Sakurai, Takeo; Wakida, Kenji; Nishida, Hiroshi (2016).

Pachyonychia Congenita Wikipedia

PC-K6b is caused by a mutation in the KRT6B gene and more commonly associated with an increased age of onset (>14 years). PC-K6c is caused by a mutation in the KRT6C gen e and is the least common sub-type. ... Pachyonychia Congenita Project is a non-profit dedicated to finding a cure for PC. The organization houses a genetic registry (the International PC Research Registry) and offers free genetic testing for individuals suspected to have PC. [11] Treatment [ edit ] There is currently no cure for pachyonychia congenita. ... ISBN 0-7216-2921-0 . ^ a b "International PC Research Registry (IPCRR)" . www.pachyonychia.org . ... Journal of the European Academy of Dermatology and Venereology . 28 (3): 279–285. doi : 10.1111/jdv.12098 .

KRT17, KRT16, KRT6B, KRT6A, MDM2

Post-Concussion Syndrome Wikipedia

Education about symptoms and details about expectation of recovery are important. The majority of PCS cases resolve after a period of time. ... However, studies have found some subtle physiological changes associated with PCS using more novel imaging modalities. Studies using positron emission tomography have linked PCS to a reduction in glucose use by the brain. ... Many of these PCS sufferers were misdiagnosed as having other unrelated conditions due to commonality of symptoms. (see diagnosis above). [70] Headache is one of the criteria for PCS, but it is notably undetermined where the headache comes from.

APOE, CSF2, ENO2, HTR1A, IL1B, LAMC2, S100B, CCL2, SNCA, IMPACT, ADCY10

Mosaic Variegated Aneuploidy Syndrome 1 OMIM

See also premature chromatid separation (PCS; 176430), which can be caused by heterozygous mutation in the BUB1B gene. PCS is inherited as an autosomal dominant trait without phenotypic consequences. ... Another 10 relatives showed 0 to 1% cells with total PCS and so were judged negative for the total PCS trait. ... Plaja et al. (2001) studied 3 patients with MVA related to PCS, showed that the phenomenon is expressed in vivo, and found that PCS is a cancer-prone disorder. ... Cytogenetic analysis of 2 infants showed 48.5% and 83.2% lymphocytes in total PCS; their parents had 3.5 to 41.7% of their lymphocytes in total PCS.

BUB1B, CEP57, TRIP13, BUB1, BUB3, PAK6, BUB1B-PAK6, CNTN3, APC, CD19

Mosaic Variegated Aneuploidy Syndrome 2 OMIM

A number sign (#) is used with this entry because mosaic variegated aneuploidy syndrome-2 (MVA2) is caused by homozygous or compound heterozygous mutation in the CEP57 gene (607951) on chromosome 11q21. Description Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15. Clinical Features Lane et al. (2002) reported a 12-year-old boy with poor growth, short stature, microcephaly, mild cognitive defects, and mildly dysmorphic facial features. Cytogenetic analysis found 24% hyperdiploid chromosome numbers during metaphase, consistent with MVA.
Mosaic Variegated Aneuploidy Syndrome MedlinePlus

Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes , a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism . Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
Mosaic Variegated Aneuploidy Syndrome 3 OMIM

A number sign (#) is used with this entry because of evidence that mosaic variegated aneuploidy syndrome-3 (MVA3; 617598) is caused by homozygous mutation in the TRIP13 gene (604507) on chromosome 5p15. Description MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). Clinical Features Yost et al. (2017) reported 6 probands with onset of Wilms tumor in early childhood.
Mosaic Variegated Aneuploidy Syndrome GARD

Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma , Wilm's tumor , and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function.
Mosaic Variegated Aneuploidy Syndrome Orphanet

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. Epidemiology To date, 41 cases of MVA have been described in the literature. Clinical description The most common clinical features are growth retardation of prenatal onset, microcephaly, developmental delay, structural central nervous system and ophthalmological anomalies (e.g. cataract, corneal opacities, microphthalmia and glaucoma), and mild dysmorphic features, including triangular facies, micrognathia, and epicanthic folds. Additional features include oligohydramnios, ventricular dilatation, Dandy-Walker malformation, fetal ascites, and increased nuchal translucency. Cancer occurs in approximately 1/3 of individuals. Wilms tumor, rhabdomyosarcoma, acute lymphoblastic leukemia, and granulosa cell malignant tumor of the ovary (see these terms) all occur before the age of 5 years.

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

Neuroendocrine Tumor Wikipedia

G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumours. ... Unsourced material may be challenged and removed. ( November 2015 ) ( Learn how and when to remove this template message ) NETs from a particular anatomical origin often show similar behavior as a group, such as the foregut (which conceptually includes pancreas, and even thymus, airway and lung NETs), midgut and hindgut ; individual tumors within these sites can differ from these group benchmarks: Foregut NETs are argentaffin negative. ... Bone metastasis is uncommon. Hindgut NETs are argentaffin negative and rarely secrete 5-HT, 5-HTP, or any other vasoactive peptides. ... Not all cells are immediately killed; cell death can go on for up to two years. [ citation needed ] PRRT was initially used for low grade NETs. It is also very useful in more aggressive NETs such as Grade 2 and 3 NETs [83] [84] provided they demonstrate high uptake on SSTR imaging to suggest benefit. ... World Journal of Clinical Oncology . 2 (1): 28–43. doi : 10.5306/wjco.v2.i1.28 .

MEN1, CDKN1B, SSTR2, DAXX, ATRX, BRAF, TYMS, PTHLH, SSTR3, SSTR1, BAP1, MTOR, SST, GAST, SLC6A2, INSM1, CTNNB1, RET, PIK3CA, DNMT3A, POMC, EPHB1, PIK3CG, PIK3CD, CHGA, ELK3, CHEK2, PIK3CB, GRN, CD274, SMUG1, AKT1, GNA12, TP53, SYP, VEGFA, CDKN2A, ASCL1, BCL2, ENO2, NCAM1, GCG, MYCN, EGFR, MGMT, KIT, RASSF1, VHL, SCLC1, SSTR5, FOLH1, NKX2-1, KRAS, CALCA, CCND1, TAC1, PTPRF, VIP, NTS, PAX5, RHBDF2, GRP, IGF1, SDHD, GOT1, MAP2K7, CCK, ERBB2, DLL3, PPY, CXCL12, TP63, SMAD4, MUC1, INS, GCGR, CKAP4, NEUROD1, ISL1, MYC, NGF, SATB2, GLP1R, HSP90AA1, H3P10, HRAS, CHGB, CALR, NTRK1, TEK, DLK1, CDK4, CDX2, TGFA, UCHL1, RPE65, PGR, PDGFRA, CARTPT, CRH, UVRAG, SLC5A5, CXCR4, IGF1R, OTP, IL6, PHLDA3, TTF1, PAX8, TACR1, STK11, TRIM21, PLA2G15, SCG2, SQLE, SLC18A2, TERT, HDAC9, SLC2A1, PROM1, BCL2L11, NTSR1, PAX6, NAMPT, NOCT, INA, PLCB3, CD200, MKI67, PDX1, MAPK1, NES, HPSE, PTEN, STMN1, ABO, RIPK1, RORC, RAF1, IL1B, TRPV1, GATA3, ANGPT2, FOXM1, PTK2B, SDHAF2, ACCS, BDNF, EPAS1, EGF, ACSS2, MIB1, DNMT1, CCN2, TRPM8, CLDN4, CPE, CD34, CD44, FLNA, CEACAM5, B3GAT1, GH1, GIP, GHSR, GIPR, ADCY2, ALB, H3P28, TPPP2, H4C5, GGH, MIR1290, TMEM209, ELOA3, H4C13, H4C14, GPR151, SRPX, LGR5, TNFSF11, PSMG1, DCBLD2, H4-16, NRP1, MRGPRX4, SOCS1, H4C2, MIR3137, MRGPRX3, TNFRSF25, H3P12, CYYR1, AZIN2, DNER, AK6, MLIP, LMLN, NRP2, GPR68, MIR1246, H4C8, MAFK, MIR150, MIR155, MBOAT4, H4C9, MIR21, POTEKP, VN1R17P, SNORD95, GPR166P, ARID1A, EID3, SLC7A5, MIR375, H4C15, FZD4, MIRLET7C, OXER1, H4C12, HMGA2, H4C3, ARX, ELOA3B, GPRC6A, H4C11, H4C6, C17orf97, POTEM, MRGPRX1, ARMH1, H4C1, GADL1, ACTBL2, H4C4, BRI3, SQSTM1, ISYNA1, GHRL, ACOT7, KLF12, KRT20, SLC27A4, TET2, BCOR, EBNA1BP2, RALBP1, PGRMC1, LAMTOR1, FBXW7, MEG3, MAML3, TMEM127, NTNG1, ATRAID, KHDRBS1, DCTN4, SNORD61, NUP62, SNORD48, NTSR2, LPAR3, MAPK8IP2, SRRM2, BRD4, TRAM1, SPINK4, XIST, PPWD1, RBMS3, SETD1B, ZHX2, TNFSF13B, USE1, MAK16, UBE2Z, ONECUT2, FHL5, GCM2, DCLK1, ZBED1, ARHGEF2, PALB2, ALG9, SNED1, TET1, PDCD1LG2, TMPRSS13, MTA1, RPAIN, H1-10, EEF1E1, LGR6, PRMT5, NEUROD4, YAP1, SCML2, LANCL1, PAK4, RABEPK, ZNF197, CTNNBL1, PNO1, INSL5, EPB41L5, HDAC5, AKT3, CD302, GBA3, DCAF1, ATAT1, SERPINA3, VCL, CGA, ESR1, ERBB4, EPHB2, E2F1, DUSP2, DSG3, DPT, DPP4, DMBT1, DDC, DAD1, VCAN, CREB1, CRABP1, KLF6, CLU, FOXN3, CEACAM7, CEACAM3, ESR2, ETFA, EZH2, GHRH, HSPA4, AGFG1, HMOX1, HMGA1, GTF2H1, GSN, GNAS, GNA15, GFRA1, F3, GDNF, FSHR, FLT4, FLII, FLI1, FOXO1, FHIT, FGFR4, CGB3, CFL1, UQCRFS1, CDKN2C, FAS, APRT, APLP1, XIAP, APC, SLC25A6, SLC25A4, ANGPT1, ALK, AKT2, AFP, PARP1, ADCYAP1R1, ADCYAP1, ACVRL1, ACTN4, ACTG2, ACTG1, ACR, AQP4, ARF1, ATM, CASP3, CDK6, CD40LG, CD36, CD33, CCNE1, CCKBR, SERPINA6, CAV1, CA9, ATOH1, VPS51, C5, BRS3, BRCA2, DST, BAX, AVP, ATP4A, HTC2, HTR2A, TNC, IAPP, SDC1, SCT, SORT1, RNASE3, RARB, PTPRZ1, PTPRM, PTBP1, PSMD7, PSG2, PRKAR1A, PPP4C, POU4F1, PNN, PKD2, PITX2, PCYT1A, SERPINA5, PAX4, SDCBP, SDHB, SDHC, ST2, UBE2I, TPM3, TPH1, TNF, TM7SF2, TERC, TAT, STAT3, SSTR4, SEMA3F, SSR2, SOX11, SOX4, SOX2, SLPI, SLC3A2, SLC1A5, SFRP1, PAK3, PAK1, TNFRSF11B, KIF11, MDK, MAOA, LCN2, RPSA, L1CAM, KRT19, KRT7, KRT5, IL12A, MET, IL9, CXCL8, IL2, IL1A, IGFBP1, IGF2, IFNA13, IFNA1, MDM2, MFAP1, ODC1, MUTYH, NTRK2, NT5E, NRAS, NOTCH3, NPY, NOTCH1, NFKB1, NEFM, MUC4, CD99, NUDT1, COX2, MTAP, MST1R, MST1, MSMB, MMP7, MLH1, PTPRC

Pancreatic Neuroendocrine Tumor GARD

However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones. ... Pancreatic NETs are called either functional or nonfunctional. A functional pancreatic NET causes specific symptoms because it makes extra hormones, such as gastrin, insulin, or glucagon. ... Pancreatic NETs can be hard to diagnosis, often not identified until 5 to 10 years after they begin to grow. Most pancreatic NETs are not inherited and occur sporadically in people with no family history of NETs.

MEN1, PCSK1, ATM, BRCA2, C11orf65, IGF2, SST, TP53, CDKN2A, SLC6A2, MTOR, EPHB1, POMC, GH1, GCGR, DAXX, ELK3, KRT19, SSTR2, CHGA, SSTR5, UCHL1, FZD4, GCM2, DLGAP1, DCLK1, SSTR4, INA, STK11, EIF2AK3, TFE3, THBD, CXCR4, PAX8, TSC1, TTR, TYMS, VEGFA, ABO, CNPY2, MRGPRX4, GPR166P, VN1R17P, MIR196A1, GADL1, MRGPRX1, GPRC6A, OXER1, GPR119, GPR151, MRGPRX3, SEMA3A, AZIN2, ACCS, STK33, LGR6, ACSS2, MEG3, NEUROG3, LPAR3, LILRB1, PLA2G15, RET, SLC2A3, INSM1, GRN, FFAR1, GHRH, GAST, FGFR4, F3, EGFR, DHCR24, CSF1, CRH, CHGB, CD44, CCK, CALCA, VPS51, ATRX, ASS1, ASCL1, ANGPT2, HSF1, PDX1, SLC2A2, KIT, SLC2A1, SEA, SDHB, SDHA, AKT1, PYGM, PTH, PTEN, PPY, PTPA, PGR, PCYT1A, PCNA, NFKB1, NEUROD1, MUC1, SMAD4, STMN1, KRAS, H3P10

Neuroendocrine Tumor GARD

A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... Pancreatic neuroendocrine tumors (also called islet cell tumors) - NETs that typically arise in the pancreas, although they can occur outside the pancreas. A p heochromocytoma is another, rarer type of NET that usually develops in the adrenal gland , but can also arise in other parts of the body. ... Functional NETs produce a specific set of symptoms due to the production of excess hormones, while non-functional NETs generally do not cause specific symptoms. In many cases, a person has no symptoms until the tumor spreads to the liver and/or impairs the function of an organ or system. This can make NETs very hard to diagnose. The majority of NETs are not inherited and occur sporadically in people with no family history of NETs.

PRKAR1A, MEN1, CALCA, RUNX1T1, CDKN1B, CGA, CHGA, FN1, GAST, IGFBP3, PTH, RET, ADAM17, QRSL1, CDC73

Endocrine Gland Neoplasm Wikipedia

Endocrine gland neoplasm Specialty Oncology , endocrinology An endocrine gland neoplasm is a neoplasm affecting one or more glands of the endocrine system . Examples include: Adrenal tumor Pituitary adenoma The most common form is thyroid cancer . [1] Condition such as pancreatic cancer or ovarian cancer can be considered endocrine tumors, or classified under other systems. Pinealoma is often grouped with brain tumors because of its location. [ citation needed ] See also [ edit ] Multiple endocrine neoplasia References [ edit ] ^ "Thyroid cancer" . Archived from the original on 2007-12-20 . Retrieved 2007-12-22 . External links [ edit ] Classification D ICD - 10 : C73 - C75 D34 - D35 MeSH : D00470 v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc. Research Index of oncology articles History Cancer pain Cancer and nausea v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B This article about a neoplasm is a stub .

Pyruvate Carboxylase Deficiency OMIM

Robinson et al. (1984) concluded that the 2 subtle types of PC deficiency result from 2 different mutations in the PC gene, 1 that synthesizes an inactive protein and 1 that results in lack of protein expression. ... Three families with the French presentation had absence of immunoreactive PC protein and PC mRNA; however, another 3 families with the French presentation had evidence of protein production as well as PC mRNA. ... Diagnosis Prenatal Diagnosis Tsuchiyama et al. (1983) reported a patient with PC deficiency and PC activity of about 5% of normal. ... Monnot et al. (2009) identified 9 novel mutations in the PC gene (see, e.g., 608786.0007-608786.0009) in 5 unrelated patients with PC deficiency: 3 had the more severe type B PC, and 2 had type A. PC activity in cultured fibroblasts was undetectable in all patients.

PC, PROS1, PROC, F5, APC, SERPINC1, CA5A, SLC25A10, F2, SERPIND1, ATXN3, OGDH, SERPINE1, PGR-AS1

Pyruvate Carboxylase Deficiency MedlinePlus

Type A appears to be much more common in some Algonkian Indian tribes in eastern Canada. Causes Mutations in the PC gene cause pyruvate carboxylase deficiency. ... Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters that allow nerve cells to communicate with one another. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. ... Learn more about the gene associated with Pyruvate carboxylase deficiency PC Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Pyruvate Carboxylase Deficiency Orphanet

Epidemiology The overall prevalence of PC deficiency is not known and annual incidence has been reported to be 1/250,000 births. ... Clinical description Three clinical presentations of PC deficiency, probably constituting a continuum, have been described: infantile PC deficiency (type A); severe neonatal PC deficiency (type B); and intermittent/benign PC deficiency (type C). ... Type B has a very severe course with a fatal outcome in early infancy, and Type C involves only episodic metabolic acidosis. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5), involved in the conversion of pyruvate to oxaloacetate, an intermediate in the citric acid cycle and gluconeogenesis. ... Diagnostic methods PC deficiency may be suspected in patients with the non-specific clinical signs of the condition. Diagnosis is based on detection of characteristic laboratory test abnormalities in amino acid, organic acid, glucose, and ammonia serum concentrations. A PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Pyruvate Carboxylase Deficiency GeneReviews

In individuals with PC deficiency, fibroblast PC enzyme activity is usually less than 5% of that observed in controls. The diagnosis of PC deficiency can also be established in a proband by identification of biallelic pathogenic variants in PC on molecular genetic testing. ... In individuals with PC deficiency, fibroblast PC enzyme activity is usually less than 5% of that observed in controls [Wang et al 2008]. Note: Muscle PC activity is quite low in control tissue. Therefore, PC enzyme assay on muscle tissue is not recommended.
Pyruvate Carboxylase Deficiency, Benign Type Orphanet

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. Epidemiology Benign PC deficiency is a very rare form of PC deficiency and has been described in fewer than 10 patients to date. ... Other signs include dystonia, episodic ataxia, dysarthria, transitory hemiparesis and seizures. Etiology Type C PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... The abnormal biochemical parameters found in severe forms of PC deficiency are absent in patients with Type C, although lysine, proline and alanine may be elevated, while citrulline is normal. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Pyruvate Carboxylase Deficiency, Severe Neonatal Type Orphanet

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. ... Renal tubular acidosis has been reported. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... Blood lactic acid levels are usually above 10 mmol/l. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Pyruvate Carboxylase Deficiency, Infantile Type Orphanet

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. ... Clinical description Patients with Type A PC deficiency usually first present with symptoms at the age of two to five months, often after normal early development. ... Renal tubular acidosis has also been reported. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... Blood lactic acid levels are usually between 2 and 10 mmol/l. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing. Genetic counseling PC deficiency is inherited in an autosomal recessive manner.
Pyruvate Carboxylase Deficiency GARD

This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.

Parotid Proline-Rich Salivary Protein Pc OMIM

Karn et al. (1985) identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. ... By in situ hybridization, Mamula et al. (1985) regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known (Azen, 1990).

Familial Pancreatic Carcinoma Orphanet

Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. Epidemiology The annual incidence has been estimated at approximately 1-10/1,000,000, representing 5-10% of all PC cases. Clinical description In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of PC. ... Smoking represents a significant risk factor associated with familial PC. PC can arise from the exocrine (95%) or endocrine portions of the pancreas. ... Etiology Mutations in the KRAS , CDKN2A , TP53 , and SMAD4 genes have been shown to play a role in the etiology of PC. However, they are still not clinically useful for screening or for diagnosing the disease. ... Even after complete resection of the tumor, recurrence rates remain high. Patients with a family history of PC should be strongly advised to avoid or cease smoking.

BRCA2, PALB2, CDKN2A, PALLD, BRCA1, RABL3, SMAD4, KRAS, TP53, ATM, H3P10, PALD1, MSH6, PKHD1, FANCG, SUB1, H3P8, GTF2H5, CD47, IDO2, MAGT1, CDH10, SF3B6, LAMTOR2, CDK2, CDKN1A, CHEK2, RPP14, CDK2AP2, FANCC, CFTR, TIMP1, STK11, SPINK1, S100A9, RNASEL, ALPP, MSH2, CPB1, LCN2, ERCC2, IAPP, ALPI

Pancreatic Cancer OMIM

A number sign (#) is used with this entry because mutations in a number of genes are associated with pancreatic carcinoma, familial or sporadic, germline or somatic. Description Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic Cancer Somatic mutations in pancreatic cancer occur in the KRAS (190070), CDKN2A (600160), MADH4 (600993), TP53 (191170), ARMET (601916), STK11 (602216), ACVR1B (601300), and RBBP8 (604124) genes.
Pancreatic Cancer, Susceptibility To, 1 OMIM

A number sign (#) is used with this entry because of evidence that the form of familial pancreatic cancer that maps to 4q32-q34 is determined by mutation in the gene encoding palladin (PALLD; 608092). Clinical Features Familial pancreatic cancer (260350) occurs as part of several familial cancer syndromes and as part of hereditary pancreatitis. In addition, families with isolated pancreatic cancer have been identified, most notably the family of former President of the United States Jimmy Carter (Lynch et al., 1990; Brentnall et al., 1999; Banke et al., 2000; Hruban et al., 2001). Affected members of these families inherit pancreatic cancer in the absence of other types of cancer and in the absence of chronic pancreatitis. A striking example of autosomal dominant pancreatic cancer is 'family X' described by Brentnall et al. (1999) and Meckler et al. (2001).
Familial Pancreatic Cancer GARD

Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In familial cases, pancreatic cancer often occurs before age 50 (earlier than other forms of pancreatic cancer). In 60% of cases it occurs within the head of the pancreas. Symptoms of pancreatic cancer are generally non-specific and may include pain in the upper abdomen that radiates to the back; loss of appetite; significant weight loss; and jaundice due to bile duct obstruction . Pancreatic cancer often goes undetected until the advanced stages of the disease, and rapid tumor growth and metastasis are common.
Pancreatic Cancer, Susceptibility To, 2 OMIM

A number sign (#) is used with this entry because susceptibility to pancreatic cancer is conferred by heterozygous mutation in the BRCA2 gene (600185) on chromosome 13q13. For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. Mapping Schutte et al. (1995) observed that, although pancreatic adenocarcinoma is relatively frequent, description of the genetic alterations has been hampered for several reasons. Because of the aggressive clinical course, the number of resected specimens, especially at early stages of the cancer, have been somewhat limited. Furthermore, pancreatic adenocarcinomas characteristically exhibit an exuberant host desmoplastic response, resulting in a high mixture of nonneoplastic cells and hampering the molecular genetic analysis of primary tumor samples.
Pancreatic Cancer, Susceptibility To, 4 OMIM

A number sign (#) is used with this entry because this form of susceptibility to pancreatic cancer is caused by heterozygous mutation in the BRCA1 gene (113705). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic cancer, see 260350. Mapping This form of susceptibility to pancreatic cancer is caused by mutations in the BRCA1 gene, which Miki et al. (1994) mapped to chromosome 17q21. Molecular Genetics Al-Sukhni et al. (2008) found loss of heterozygosity at the BRCA1 locus in pancreatic tumor DNA from 5 (71%) of 7 patients with pancreatic cancer who carried a heterozygous germline BRCA1 mutation (see, e.g., 113705.0003 and 113705.0018). Pancreatic tumor DNA was available for sequencing in 4 cases, and 3 demonstrated loss of the wildtype allele.
Pancreatic Cancer, Susceptibility To, 3 OMIM

A number sign (#) is used with this entry because heterozygous mutation in the PALB2 gene (610355) on chromosome 16p12 confers susceptibility to pancreatic cancer. For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. Molecular Genetics To explore the utility of personal genome sequencing, Jones et al. (2009) screened 20,661 coding genes for germline mutations in a patient with pancreatic cancer whose tumor DNA had previously been sequenced. They detected 15,461 germline variants. Three genes, including PALB2, carried variants in both germline and tumor DNA. PALB2 was considered the best candidate for a pancreatic cancer susceptibility gene because of the rarity of terminating PALB2 mutations in healthy individuals and because PALB2 had previously been implicated in breast cancer and Fanconi anemia.

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Orphanet

A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.

SLC6A2, SLC12A2

Orthostatic Intolerance Wikipedia

Archived from the original on 2007-07-28 . Retrieved 2007-08-21 . ^ "Vanderbilt autonomic dysfunction center" . ... Archived from the original on 2007-09-28 . Retrieved 2007-08-21 . ^ "National Dysautonomia Research Foundation" .
Postural Orthostatic Tachycardia Syndrome Wikipedia

It is accompanied by other features of orthostatic intolerance —symptoms that develop in an upright position and are relieved by reclining. [20] These orthostatic symptoms include palpitations , light-headedness , chest discomfort, shortness of breath , [20] nausea, weakness or "heaviness" in the lower legs, blurred vision , and cognitive difficulties. [1] Symptoms may be exacerbated with prolonged sitting, prolonged standing, alcohol, heat, exercise, or eating a large meal. [ citation needed ] In up to one third of people with POTS, [1] fainting occurs in response to postural changes or exercise. [22] Migraine -like headaches are common, sometimes with symptoms worsening in an upright position ( orthostatic headache ). [22] 40-50% of patients with POTS develop acrocyanosis of extremities, a reddish-purple color in the legs and/or hands when they stand (indicative of blood pooling). [23] [22] [24] 48% of people with POTS report chronic fatigue and 32% report sleep disturbances . [25] [26] [27] [28] Others exhibit only the cardinal symptom of orthostatic tachycardia. [22] Additional symptoms are varied, and may include excessive sweating, a lack of sweating, heat intolerance, digestive issues such as bloating, nausea, indigestion, constipation, and diarrhea, a flu-like feeling, coat-hanger pain, forgetfulness, brain fog, and presyncope . [29] Brain fog [ edit ] One of the most disabling and prevalent symptoms in POTS is " brain fog ", [30] a term used by patient to describe the cognitive difficulties they experience. ... PMID 32528589 . ^ Ross AJ, Medow MS, Rowe PC, Stewart JM (December 2013). "What is brain fog?
Orthostatic Intolerance OMIM

A number sign (#) is used with this entry because of evidence that orthostatic intolerance is caused by heterozygous mutation in the gene encoding the norepinephrine transporter (SLC6A2; 163970) on chromosome 16q12. One such family has been reported. Clinical Features Orthostatic intolerance is a syndrome characterized by adrenergic symptoms that occur when an upright posture is assumed: the heart rate increases by at least 30 beats per minute, without orthostatic hypotension (Jacob et al., 1997). Most patients with orthostatic intolerance are women between the ages of 20 and 50 years (Low et al., 1995). This syndrome, first described by Da Costa (1871), has been called soldiers heart (Fraser and Wilson, 1918), neurocirculatory asthenia (Wooley, 1976), and mitral valve prolapse syndrome (Boudoulas et al., 1980). It is similar in many respects to chronic fatigue syndrome (Schondorf and Freeman, 1999).

Neuroendocrine Neoplasm Of Esophagus Orphanet

A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. ... NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.

Pachyonychia Congenita MedlinePlus

Researchers used to distinguish pachyonychia congenita as one of two types, PC-1 or PC-2, based on the genetic cause and pattern of signs and symptoms. ... When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17.

KRT16, KRT6A, KRT6B, KRT17, GCG, INS, EHMT1, ZGLP1

Malaria Wikipedia

The sporozoites are injected into the skin, in the saliva, when the mosquito takes a subsequent blood meal. [28] Only female mosquitoes feed on blood; male mosquitoes feed on plant nectar and do not transmit the disease. ... The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity .

ICAM1, FCGR2B, HBB, CD36, NOS2, FCGR2A, TNF, CR1, G6PD, CRP, HP, ACKR1, GYPA, SLC4A1, GYPB, NCR3, TIRAP, GYPC, LTBR, CISH, IFNG, HMOX1, PKLR, ABO, ANK1, AQP4, ATP2B4, HBG2, CYTB, ENOSF1, MSMB, MST1, ZNF536, LINC00944, SMARCB1, DHODH, PDR, TREML4, ZNF804A, OR51F1, OR51B5, CDH13, PROCR, SPATA3, OR51N1P, DHFR, DDT, RECQL4, FAM155A, IGHG3, IL4, MMP26, IL6, IL10, TLR9, HLA-DRB1, CSMD1, HBE1, DNAJC5, TMPRSS13, KLHL3, HDGFL2, TLR4, ATAD1, LMLN, TENM3-AS1, MECP2, POMGNT2, MBL2, TFRC, TGFB1, MIF, HLA-B, HAMP, DHPS, SERPINA3, TLR2, IL1B, FOXP3, FHL5, ACOT7, POTEKP, POTEM, GEM, KIR3DL1, RN7SL263P, ACTG2, ACTG1, ACTB, ACTBL2, HBA2, CYP2B6, HSPA4, LSAMP, TRAP, FCGR3B, HSP90AA1, IL1A, LAMP3, CD81, OR10A4, CCL5, ABCB1, FAS, CD40LG, TEP1, CXCL8, IARS1, HLA-G, CTLA4, HBA1, INSRR, ANGPT2, TYMS, CFH, GSTP1, IFNAR1, AGT, GYPE, FCGR3A, TXN, IL13, HSPB3, APOE, MTCO2P12, ISYNA1, FCGR2C, FYB1, VDR, HLA-A, GSTM1, GSR, ATR, MBL3P, LAIR1, PNP, IL12B, MNAT1, IL1RN, CYP2D6, IGF1, CD55, ACHE, DECR1, COX2, IL3, CCL2, MAPK1, NLRP3, FBXW7, HAVCR2, THBD, VPS51, EMP1, ITGA2B, PTGS2, ANC, IL10RA, XPO1, VNN1, PLEK, UMPS, IL2, IL2RA, TPPP, VWF, ISG20, ADAMTS13, IRF1, IL7R, AIMP2, IL12RB1, CLEC11A, METAP2, CDK5R1, ING1, IL18R1, PGD, HAP1, H6PD, PRDX5, GRAP2, CXCL9, MMP9, MPO, TAP1, CCL4L2, COX1, EBI3, ITGAX, COX3, TLR6, CXCL11, MTHFR, NFKB2, NFYA, NOS1, TBC1D9, ORC1, MCF2, AKAP13, RNF19A, TLR7, NT5C3A, IRAK4, KIR2DS1, CCL4, KIR3DL2, ICOS, COQ2, PSIP1, PECAM1, TPT1, RNASE3, ARTN, TP53, POLDIP2, PDCD1, TLR1, AHSA1, UBL4A, AQP3, AGRP, H3C9P, CYP2C8, CYP2C19, GTF2H4, CRK, RNA18SN5, ANXA2, H3P37, CASP1, NANP, CCL4L1, MAPK14, CXCR3, GNAS, GLO1, FCN2, SMIM10L2B, FKBP4, CD27, FOXO3, RBM45, HM13, IL33, HK1, CCR5, IFNA13, IFNA1, H3P42, DNAJB1, CHIT1, CYP3A4, SMIM10L2A, EGF, CHI3L1, CAT, EPHA2, NSFL1C, ADRB2, MYMX, COX8A, GAPDH, ABCB6, NR1I3, TREML1, PUM3, FMN1, TICAM2, TRIM13, BMS1, FZD4, RABEPK, LANCL1, FUT9, TNFSF13B, DCTN6, CXCR6, ARL6IP5, MRGPRX1, ZNRD2, ASPM, KAT5, RAB7B, CIB1, SEMA3C, ARMH1, STING1, CFDP1, CPQ, MYLK4, DLC1, AKR1A1, PIEZO1, TMPRSS11D, HDAC9, CARTPT, DEFB4B, TIMELESS, SPHK1, TMED7-TICAM2, PSC, VNN2, PROM1, UPK3B, H3P23, H3P28, TNFRSF11A, TNFRSF18, TP63, PDXK, CNTNAP1, DHX16, STK24, H3P19, LOH19CR1, WASHC1, WASH6P, LPAR2, MIR146A, APOBEC3B, SPAG6, CLOCK, ATG5, MIR142, AIM2, ABCG2, PCSK9, MIR155, NCF1, PPIG, MIR29A, VN1R17P, GPR166P, CD163, MIR451A, CXADRP1, ARHGEF2, CERS1, SPINK5, MASP2, GEMIN4, ACD, TLR8, MPPE1, MCPH1, HSPA14, RNF34, TMED7, ARMC9, PPP1R2C, IL22, TRAF3IP2, A1CF, PDCD1LG2, SLC44A4, SGSM3, MCAT, HPGDS, B3GAT1, ROPN1L, PHGDH, RAB14, IL23A, ABCG4, IFIH1, CFC1, BTNL2, MARCHF1, POLE4, CMC2, TMED9, ACKR3, PDXP, RHOF, AICDA, POLD4, RBM25, TOLLIP, TREM1, LGR6, ADA2, BACH2, ERAP1, GOLPH3, PARS2, KRT88P, TRIM5, IL17RE, CHP1, GPR151, NRSN1, EIF5AL1, CD160, APCDD1, ERFE, OXER1, DNAJB1P1, DSTN, GPRC6A, CCNI, ADIRF, EBNA1BP2, TMED2, EHD1, RNPS1, HPSE, SEPTIN9, SCLT1, NT5C2, SLC25A21, LEO1, NLRP12, TIMD4, CDCA5, DBA2, CARD16, PTPMT1, CGAS, RAB39B, TADA1, MRGPRX3, MRGPRX4, PGLS, PANX1, SPO11, LPAR3, CBX5, POFUT2, SPPL3, NBEAL2, LUC7L, PTPRC, FGF23, EIF5, FLT3LG, FLT1, FECH, FBN2, FBN1, FANCD2, F3, EPO, ENO2, ADGRE1, ELK4, ELF4, EIF5A, EIF4G2, CXADR, EGR3, EDNRA, EDN1, S1PR3, RCAN1, ATN1, DNMT1, DEFB4A, DHX9, ACE, DBP, CYP1A2, CYC1, GABPA, GCHFR, GDF1, GPR42, IL4R, IL1R1, IGFBP1, IFNGR1, IFNB1, IFNA2, IFI27, IDE, HTN3, HSPA9, HSD11B1, HRES1, HPRT1, HPR, HPGD, HMGB1, HLA-DOA, UBE2K, HGF, SERPIND1, HBG1, GTF3A, GSTT1, GSN, GPX1, GPT, GRK5, CYBB, CTSL, IL9, ANXA1, C3, BSG, BRS3, BRCA2, PRDM1, BCL2, BAX, ASPA, ASIP, ARR3, NUDT2, ANXA7, ANXA4, ANPEP, CSH2, AMBP, ALOX5, ALB, AHR, AFP, ADSL, ADRA2B, ADRA1A, ADORA2A, ADH1B, ADA, ACP1, ACACA, CAST, CASR, CD1B, CD1C, CSH1, CSF1R, CSF1, CS, CRYZ, CREM, CR2, CLDN4, CPB1, CNTF, CCR4, CLU, ERCC8, CTSC, CEL, CDC25C, CD69, CD68, CD40, ENTPD1, CD34, CD28, CD19, CD14, CD9, CD1E, CD1D, IL5, IL12A, FOSL1, SELE, SPTA1, SPP1, SPINK1, SPG7, SOD3, SOD1, SMN1, SLC16A1, SLC11A1, SLC6A7, SLC2A1, SGCG, SET, SEA, ABCA1, SDC1, CXCL5, CCL22, CCL18, CCL3L1, CCL3, CCL1, SAFB, SORT1, RPS19, RBP2, RANBP2, PEX19, SSR2, SSTR4, DENND2B, STAT6, DDX39B, PRRC2A, PFBI, RAB7A, CXCR4, MOGS, ZBTB16, TRPV1, VCP, USP1, TYRP1, TTR, TTPA, TRPC1, TRP-AGG2-5, TPO, TPH1, TNFRSF1B, TLR3, TGFB2, TRBV20OR9-2, TCN2, HNF1A, TADA2A, ADAM17, TAC1, STK3, PTPRH, PTHLH, IL15, KIR3DS1, MAL, MAF, LTB, LTA, LMAN1, LEPR, LDLR, LCN2, LBR, RPSA, LAG3, KRT13, KNG1, KIR2DS5, PSMD9, KIR2DL3, KIR2DL2, KDR, KCNG1, KARS1, ITPA, ITGB2, ITGAM, ITGAL, CXCL10, IDO1, ILF3, IL18, MAP2, MAP6, MEFV, MVD, PSMD7, PSMD2, PSMB9, PSEN1, PSAP, PRSS1, PROC, MAP2K1, PRKG1, PRKAR1A, PPP1R1A, PPARG, SEPTIN4, PLP1, PGM1, PGAM1, P2RX7, SLC22A18, TNFRSF11B, OMD, ODC1, NOS3, NQO2, NFE2L2, NEK2, MYD88, MYC, H3P5

Malaria, Susceptibility To OMIM

Using an antibody array to assess the level of 28 receptors in the livers of 2 substrains of BALB/c mice, Kaushansky et al. (2015) determined that 9 receptors, including EphA2, were present at elevated levels in the substrain that is more susceptible to the murine malaria parasite, Plasmodium yoelii. ... A reduction in mortality greater than that attributable directly to malaria had been observed after the prevention of malaria by insecticides, chemoprophylaxis, and insecticide-impregnated bed nets. Previous observations that direct malaria mortality cannot account for observed hemoglobin S gene frequencies suggest that the findings of this study may apply equally to other malaria resistance genes. ... Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1; 604305) polymorphism makes the net effect on resistance to malaria comparable.
Malaria Orphanet

A life-threatening parasitic disease caused by Plasmodium ( P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Malaria GARD

Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
Malaria Mayo Clinic

To reduce malaria infections, world health programs distribute preventive drugs and insecticide-treated bed nets to protect people from mosquito bites. The World Health Organization has recommended a malaria vaccine for use in children who live in countries with high numbers of malaria cases. Protective clothing, bed nets and insecticides can protect you while traveling. ... Sprays containing permethrin are safe to apply to clothing. Sleep under a net. Bed nets, particularly those treated with insecticides, such as permethrin, help prevent mosquito bites while you are sleeping.

West Nile Fever Wikipedia

Archived from the original on 18 October 2017 . Retrieved 28 October 2017 . ^ "Final Cumulative Maps and Data | West Nile Virus | CDC" . www.cdc.gov . 24 October 2017. Archived from the original on 27 October 2017 . Retrieved 28 October 2017 . ^ Gompf, Sandra. "West Nile Virus" . Medicine Net . MedicineNet Inc . Retrieved 15 January 2019 . ^ "Symptoms, Diagnosis, & Treatment" . ... Retrieved 2018-11-28 . ^ Tyler KL, Pape J, Goody RJ, Corkill M, Kleinschmidt-DeMasters BK (February 2006). ... PMID 21837806 . ^ a b "Prevention | West Nile Virus | CDC" . www.cdc.gov . 2018-09-24 . Retrieved 2018-11-28 . ^ American Academy of Pediatrics (8 August 2012).

CCR5, ERVK-32, ROBO3, MAVS, DDX58, PLAAT4, IFIT2, ERVK-6, STAT1, SPP1, OAS1, IL1B, IFNB1, RNASEL, CASP8, HLA-DRB1, PELI1, SELENBP1, ARHGEF2, LRRFIP1, NAMPT, TRAIP, RIPK3, SEC14L2, CSF1R, LAMP3, ERVW-1, FOXP3, ZMYND10, DDX56, CCR7, VCP, CDKN2A, IFIH1, DHX58, ZBP1, HAVCR2, PIK3IP1, NLRP3, TNFRSF13C, TRIM6, RBM45, CCR2, ERVK-20, ERVK-18, VAMP8, TNFRSF1A, IFNA1, TNF, IFNA13, HLA-DQA1, IL1A, HLA-C, IL10, IL17A, IL18, IRF3, IRF5, KIR2DL2, KIR3DL1, KIR3DS1, LSAMP, CD180, SMAD4, MMP9, HLA-A, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PZP, GLS, CASP1, SNCA, GEM, DDX3X, TAP1, TLR3, ATF4

Familial Gastric Type 1 Neuroendocrine Tumor Orphanet

A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. ... Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).

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. ... Genomewide Association Studies Kottgen et al. (2013) reported the identification and replication of 28 genomewide-significant urate concentration-associated loci, 18 of which were novel, using genomewide association study (GWAS) (26 loci) and pathway (2 loci) approaches. ... 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