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Lupus Vulgaris Wikipedia

Classification D ICD - 10 : A18.4 ( ILDS A18.420) ICD - 9-CM : 017.0 MeSH : D008177 External resources eMedicine : derm/434 v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji

CR2, C2, DNMT1, IL10, TNF, TLR7, IL6, IL2, TLR9, IL21, IFNA13, CD40LG, TRIM21, FCGR2B, IFNA1, IL17A, IRF5, CD70, TNFSF13B, MTOR, TREX1, TLR5, ESR1, RO60, ITGAM, BTK, IL1B, CTLA4, TP53BP1, FLI1, MAPK1, IL22, BLK, TRBV20OR9-2, CD28, EPHB2, IFIH1, HLA-DRB1, IFNG, RNPC3, FCGR3A, EZH2, RAB4A, ACE, SPP1, PRL, ICOS, ITGAL, CCL2, FOXP3, FCGR3B, MECP2, PBX1, C1QA, C3, KIR3DL2, PTPN22, IL2RA, IL4, AIM2, STAT4, CRP, CXCL12, RFX1, F5, FCGR2A, HDAC6, F3, STAT1, STAT3, TLR4, VEGFA, FLII, ISG20, GEM, BANK1, DECR1, IRAK1, IL18, ITGB2, KIR3DL1, F11R, MBL2, CBLIF, IFN1@, IFI16, HRES1, IRF7, BTG3, MAVS, MYDGF, IGHG3, CREM, BCR, APOH, MIR146A, MIR21, CASP1, CAMK4, CALR, CD44, CYBB, P2RX7, SLAMF1, KIR2DS1, FASLG, PRKAR1A, TLR8, MIR663A, CASR, PTPA, MIR155, CXCL10, MIR148A, IL17D, TNFRSF17, CXADRP1, MBD2, CD19, MS4A1, PPARD, SLEB4, IL1A, TREM1, CD38, KRT20, IFNAR1, CD40, CAMP, PDCD1, IRAK4, NR1I3, CXCL13, NOS3, NCF2, MYD88, MTHFR, SIRT1, TRIM13, PADI4, ARR3, PRDM1, MMP9, REN, PRKCB, CXCR5, AR, HDAC9, SH2D1A, RPS19, IL21R, LGALS9, LGALS3, TNFSF13, LEP, MIR31, CD274, MIR125A, TLR2, CTNNB1, TGFB1, TGFB3, GATA3, XRCC6, VSIR, IL27, CD69, ADAM10, ACTB, EMB, ETS1, IGAN1, RBM45, SRCIN1, FAM167A, CXADR, UBASH3B, TRPM2, TNFSF4, VCAM1, SLAMF6, CXCR4, NEAT1, BCL2, APOL1, CDR1, SPG7, ANXA6, SSB, STING1, HMGB1, CD72, H4C1, TRIM38, TNIP1, H4C13, SIGLEC14, ANP32B, H4C4, MAEA, H4C6, ZNRD2, H3C13, PROCR, TNFSF9, DGAT1, AHSA1, H4C9, TAM, SH2B2, AIMP2, TNFSF12, LOC102723971, DCTN6, PSME3, IER3, H3C9P, KLK4, MIR633, EIF2AK3, KLRC4-KLRK1, XPR1, ATG5, H4C14, NR0B2, ATG12, OASL, MACROH2A1, H4C5, BECN1, H4C2, GRAP2, FCGR2C, ERVK-20, ERVW-4, H4C8, H4C3, SPATA2, RPL17-C18orf32, TNFSF15, H4C11, TMED7-TICAM2, H4C12, HNRNPDL, MBTPS1, H3C14, C1QL1, PHRF1, SGMS1, IFNL3, ERVK-6, BACH2, RFH1, HIVEP3, RSPO1, HAMP, MRTFA, LARP6, SCYL1, SLC12A9, BDH2, H3C15, SPHK2, IFNK, TICAM2, APOM, TIGIT, CENPV, BTLA, IL23R, CTHRC1, CGAS, NLRP3, IL17F, PRRT2, ORMDL3, DNER, IL33, ELOF1, LBH, CD276, VTCN1, DOCK11, WNK1, IL25, GORASP1, IL34, CHST12, VGLL3, LILRB4, ZNF423, PDCD4, PHGDH, POLDIP2, RNF19A, TNFRSF13B, BRD4, NBEAL2, KDM6B, DKK1, LBX1-AS1, ATF6, PLA2R1, KLRK1, SYNPO, H4C15, PADI2, CORO1A, LILRA3, H4-16, WG, TBX21, ERVW-1, VIP, MIR142, MIR145, RIPK4, DUOX1, MIR150, CD244, MIR224, IL23A, MIR23B, MIR29B1, MIR29B2, NT5C3A, TMED7, MIR17HG, DUOX2, TNFSF12-TNFSF13, VWF, ABCA1, VIM, CX3CR1, FCN2, FCER1G, F12, F10, F2, ERN1, ERBB2, EPO, EPHX2, ELF1, EIF4EBP1, EGR2, EGFR, EFNA2, DUSP4, TSC22D3, ATN1, ARID3A, DNMT3B, DNMT3A, DNASE1, IFI6, GFI1, GPI, HLA-H, IFNR, IFNB1, IFNAR2, IFI27, HSPG2, HSPA5, HSPA4, HNRNPC, HMGN2, HLA-DQA1, CXCR3, HLA-C, HIF1A, HGF, CFHR1, CFH, H1-0, GRIN2A, GRN, GPER1, DLAT, CTBP2, EZR, CSF3R, CASP9, CASP8, CASP6, CAST, C4B, C1QC, TSPO, BST2, BGN, ATF3, SERPINC1, FAS, KLK3, APOE, ANXA2, ABCD1, AKT1, AGER, PARP1, ADD2, ACP5, CAT, RUNX1T1, CBL, CD52, CSF1, MAPK14, CRK, CRH, CREBBP, COX8A, CCR5, CHRM3, AKR1C4, CDKN1A, CD1D, CDH13, CDK1, CD48, ENTPD1, CD36, CD80, CD8B, CD247, CD2, IL1RN, IL15, IL16, TNFRSF9, SLC4A1, SH3BP2, SRSF1, SELP, SDC2, CX3CL1, CCL14, CCL3L1, SERPINB3, S100B, RPS6, RPL17, TRIM27, RELB, RELA, ACR, PTX3, PTPRC, PTPN11, PTPN6, PTGS2, SIGLEC1, SNCA, SNRNP70, TNFAIP3, VDR, UMOD, TYK2, TRPC6, TRAF6, TRAF2, HSP90B1, TPO, TNFRSF1B, TIMP3, SNRPA, THAS, TG, ZEB1, ADAM17, SYT1, SYK, SUV39H1, SRI, SNRPB, PTGS1, PSMD9, MASP1, LY6E, MNAT1, MMP11, MMP2, AFF1, CIITA, MFGE8, CD46, MCL1, CD180, LDLR, MPO, LCT, LCN2, LBR, LAG3, KIR2DL4, KIF5A, ITGAX, ITGAE, IRF6, MPL, MRC1, MAP2K1, PC, PRKCD, PRKCA, PPARG, PON1, SERPINA1, PGK1, PF4, PDE7A, PCNA, OCA2, MSH5, NT5E, PNP, NOTCH1, NHS, NFKB1, NF1, NEDD9, NCL, COX1, H3P23
Metagonimiasis Wikipedia

M. takahashii was described later first by Suzuki in 1930 and then M. miyatai was described in 1984 by Saito. ... More rarely, metagonimiasis can arise from infection with M. takahashii or M. miyatai . Recent studies analyzing the DNA of the three agents causing metagonimiasis found that DNA sequencing supports M. yokagawai and M. takahashii be placed in the same clade, and phylogenic tree analysis supports their genetic similarity. ... Of the 240,000 estimated to be infected, 120,000 are caused by M. yokagawai, 20,000 by M. takahashii, and 100,000 by M. miyatai. ... M. miyatai and M. takahashii are prevalent along the upper reaches of the big rivers where minnows and carps are caught for eating raw. ... "Sequence comparisons of 28S ribosomal DNA and mitochondrial cytochrome c oxidase subunit I of Metgonimus yokogawai, M. takahashii, and M. miyatai." Korean Journal of Parasitology.
Atypical Adenomatous Hyperplasia Wikipedia

Contents 1 Pathology 1.1 Morphological differential diagnosis 1.2 Variants 1.3 Histopathological images 2 See also 3 References Pathology [ edit ] Morphological differential diagnosis [ edit ] Multifocal micronodular pneumocyte hyperplasia (MMPH) [1] in situ pulmonary adenocarcinoma ( bronchioloalveolar carcinoma – BAC) Variants [ edit ] multiple atypical adenomatous hyperplasia [2] disseminated AAH [3] Histopathological images [ edit ] See also [ edit ] EGFR KRAS References [ edit ] ^ Kobashi, Y; Sugiu, T; Mouri, K; Irei, T; Nakata, M; Oka, M (2008). "Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: Differentiation from multiple atypical adenomatous hyperplasia" . ... PMID 18535095 . ^ Kobashi, Y; Sugiu, T; Mouri, K; Irei, T; Nakata, M; Oka, M (2008). "Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: Differentiation from multiple atypical adenomatous hyperplasia" . ... PMID 18535095 . ^ Pastorino, U; Calabrò, E; Tamborini, E; Marchianò, A; Orsenigo, M; Fabbri, A; Sozzi, G; Novello, S; De Marinis, F (2009).

TERC, TERT
Mouse Models Of Breast Cancer Metastasis Wikipedia

M.; Eisenberger, M. A.; Carducci, M. ... E.; De Marzo, A. M.; Hicks, J. L.; Chitale, D; Ladanyi, M; Sukumar, S; Argani, P (2008). ... D.; Brinster, R. L.; Hammer, R. E.; Trumbauer, M. E.; Rosenfeld, M. G.; Birnberg, N. ... C.; Fluck, M; Allred, D. C.; Lewis, M. T.; Varmus, H. ... Oncogene . 19 (8): 992–1001. doi : 10.1038/sj.onc.1203276 . PMID 10713682 . ^ Ringold, G. M.; Yamamoto, K. R.; Tomkins, G. M.; Bishop, M; Varmus, H.
Immunodeficiency 28 Omim

The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. ... There is also a rare, partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008). ... Vogt et al. (2008) reported a child of consanguineous parents with M. avium disease who was homozygous for an in-frame 6-bp duplication in IFNGR2, resulting in duplication thr128 and met129 (147569.0004). ... The affected child died at age 5 years of disseminated M. avium disease in spite of treatment with multiple antimycobacterial drugs.

IFNGR2
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency Orphanet
  
  Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Epidemiology The prevalence is unknown. Only ten children have been identified to date. Clinical description Severe and often fatal BCG and EM infections begin in early childhood (before the age of 3). The most common pathogens seen in patients include Mycobacterium fortuitum , Mycobacterium bovis BCG, Mycobacterium abscessus and Mycobacterium avium . Infections are disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes.
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency Orphanet
  
  Clinical description The patient presented with a mild infection caused by BCG and M. abscessus . Etiology Autosomal recessive MSMD due to partial IFNgammaR2 deficiency is caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain.
Cholesterol Crystal Wikipedia

. ^ Duewell P, Kono H, Rayner KJ, Sirois CM, Vladimer G, Bauernfeind FG, Abela GS, Franchi L, Nuñez G, Schnurr M, Espevik T, Lien E, Fitzgerald KA, Rock KL, Moore KJ, Wright SD, Hornung V, Latz E (2010). ... PMID 29073957 . ^ Abela GS, Kalavakunta JK, Janoudi A, Leffler D, Dhar G, Salehi N, Cohn J, Shah I, Karve M, Kotaru V, Gupta V, David S, Narisetty KK, Rich M, Vanderberg A, Pathak DR, Shamoun FE (2017). ... PMID 29439228 . ^ Cantuti-Castelvetri L, Fitzner D, Bosch-Queralt M, Weil MT, Su M, Sen P, Ruhwedel T, Mitkovski M, Trendelenburg G, Lütjohann D, Möbius W, Simons M (2018).
Benign Familial Neonatal Seizures Wikipedia

PMID 11572947 . ^ a b c d e Schwake M, Pusch M, Kharkovets T, Jentsch T (2000). ... PMID 15596769 . ^ a b c d e f g h i j k l m n o p q r s t Singh N, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson V, Sanguinetti M, Leppert M (2003). ... Brain . 126 (Pt 12): 2726–37. doi : 10.1093/brain/awg286 . PMID 14534157 . ^ Bassi M, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri M, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M (2005). ... PMID 9430594 . ^ Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri M, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi M (2004). ... S2CID 10437379 . ^ Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, Yonetani M, Tsutsumi M, Muranaka H, Kurokawa T, Hanai T, Wada K, Kaneko S, Mitsudome A (2000).

SCN2A, KCNQ2, KCNQ3, PRRT2, ATP1A2, SCN8A, BFIS1, CHRNA4, LGI4, MC3R, SCN1B, GALE, EEGV1, CSTB, WASF2, CHRNA7, EFHC1, SLC5A11, SCN1A
- Seizures, Benign Familial Infantile, 2 Omim
  
  A number sign (#) is used with this entry because benign familial infantile seizures-2 (BFIS2) is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11. Description Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; 602066) and paroxysmal kinesigenic choreoathetosis (EKD1; 128200).
- Seizures, Benign Familial Infantile, 1 Omim
  
  Description Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
- Seizures, Benign Familial Neonatal, Autosomal Recessive Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 (121200). Clinical Features Schiffmann et al. (1991) described an Iranian Jewish kindred in which 4 children of the same generation in 2 separate sibships with complex parental consanguinity had neonatal seizures. Linkage analysis excluded assignment to the BFNS1 locus on chromosome 20q. Inheritance The transmission pattern of benign neonatal seizures in the family reported by Schiffmann et al. (1991) suggested autosomal recessive inheritance. INHERITANCE - Autosomal recessive NEUROLOGIC Central Nervous System - Seizures, generalized tonic-clonic - Hypertonia in neonatal period - Normal interictal EEG - Normal psychomotor development - Patients may develop a seizure disorder later in life MISCELLANEOUS - Onset at 6-36 hours of life - Seizures resolve by 4 months of age - See EBN1 ( 121200 ) for an autosomal dominant form ▲ Close
- Seizures, Benign Familial Neonatal, 1 Omim
  
  A number sign (#) is used with this entry because of evidence that benign familial neonatal seizures-1 (BFNS1) is caused by heterozygous mutation in the KCNQ2 gene (602235) on chromosome 20q13. Some patients with KCNQ2 mutations develop severe early infantile epileptic encephalopathy (EIEE7; 613720). Description Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
- Seizures, Benign Familial Neonatal, 2 Omim
  
  A number sign (#) is used with this entry because benign familial neonatal seizures-2 (BFNS2) is caused by heterozygous mutation in the KCNQ3 gene (602232) on chromosome 8q24. Description Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013).
- Benign Familial Neonatal-Infantile Seizures Orphanet
  
  Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2.
- Seizures, Benign Familial Neonatal, 3 Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200). Clinical Features Concolino et al. (2002) reported a family in which 3 members over 3 generations had benign neonatal seizures inherited in an autosomal dominant pattern. Cytogenetics By cytogenic analysis in a family with benign neonatal seizures, Concolino et al. (2002) identified a pericentric inversion of chromosome 5, inv(5)(p15q11), which was present in all 3 affected members and absent in 3 unaffected first-degree relatives. The authors noted that the breakpoint was different from that found in cri-du-chat syndrome (123450). INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Seizures, generalized tonic-clonic MISCELLANEOUS - Onset in first months of life - Seizures usually remit spontaneously by 12 months of age - No neurologic sequelae ▲ Close
- Seizures, Benign Familial Infantile, 4 Omim
  
  For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Clinical Features Li et al. (2008) reported a 4-generation Chinese family in which 8 individuals had benign infantile seizures. Age at seizure onset ranged from 3 to 10 months of life. The proband developed afebrile seizures at age 6 months, characterized by staring, eye deviation, focal clonus of the face, followed by secondarily generalized phase with hypertonia, extremities clonus, cyanosis, and urinary incontinence. The seizures lasted from 30 seconds to 2 minutes and occurred mainly in clusters with 3 to 10 episodes per day. Interictal EEG, brain CT, and MRI were classified as normal. Treatment with sodium valproate was effective, and the proband's seizures spontaneously remitted by 3 years of age.
- Benign Familial Infantile Epilepsy Orphanet
  
  Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Epidemiology Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life. Clinical description Seizures usually occur between 3 to 8 months of life, with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. Patients present with motor arrest, unresponsiveness, head and/or eye deviation to one side, staring, fluttering of eyelids, grunting, cyanosis, diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs.
- Seizures, Benign Familial Infantile, 5 Omim
  
  A number sign (#) is used with this entry because of evidence that benign familial infantile seizures-5 (BFIS5) is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13. Heterozygous mutation in the SCN8A gene can also cause the more severe disorder EIEE13 (614558). Description Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development.
- Benign Familial Neonatal Epilepsy Orphanet
  
  Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. Epidemiology Prevalence is currently unknown since this disorder is possibly overlooked. About 100 families have been reported to date. Clinical description Seizure onset is usually between the second and the eighth day of life, in otherwise healthy newborns. Seizures are mostly focal involving alternatively both sides of the body and apnea is frequently associated. Seizures can be isolated or in clusters, are generally brief and last 1-2 minutes.
- Seizures, Benign Familial Infantile, 3 Omim
  
  A number sign (#) is used with this entry because benign familial neonatal-infantile seizures-3 (BFIS3) is caused by heterozygous mutation in the SCN2A gene (182390) on chromosome 2q24. See also early infantile epileptic encephalopathy-11 (EIEE11; 613721), a more severe disorder that also results from mutations in the SCN2A gene. Description Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, 121200) has a slightly earlier onset.
D-Glycerate Dehydrogenase Deficiency Wikipedia

. ^ Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M (Sep 2014). ... PMID 25152457 . ^ Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (Jun 1996). "3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis" . ... Trends in Plant Science . 19 (9): 564–9. doi : 10.1016/j.tplants.2014.06.003 . PMID 24999240 . ^ Ho CL, Noji M, Saito M, Saito K (Jan 1999). "Regulation of serine biosynthesis in Arabidopsis. ... PMID 9867856 . ^ de Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT (Aug 1998).

GRHPR, GLYCTK
- Hyperoxaluria, Primary, Type Ii Omim
  
  A number sign (#) is used with this entry because of evidence that type II primary hyperoxaluria (HP2) is caused by homozygous or compound heterozygous mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9p13. For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900. Clinical Features Seargeant et al. (1991) reported 8 HP2 patients who belonged to 3 Saulteaux-Ojibway Canadian Indian families living in 2 isolated communities in northwestern Ontario. All had increased urinary oxalic acid and L-glyceric acid. Four patients presented with symptoms resulting from calcium oxalate nephrolithiasis, including dysuria, hematuria, and urinary tract infections in infancy or early childhood; 3 did not have recurrences. The other 4 affected patients were free of symptoms, suggesting that HP2 may be a much milder disease with a better long-term prognosis for renal function than HP1 (259900).
- Primary Hyperoxaluria Type 2 Gene_reviews
  
  Kidney stones containing predominantly calcium oxalate Increased urinary oxalate, typically greater than 0.7 mmol/1.73 m 2 /24h (normal <0.46 mmol/1.73 m 2 /24h). ... Treatment of persons with preserved renal function, reviewed by Cochat et al [2012], essentially aims to improve oxalate solubility as follows: Adequate fluid intake (>2.5 L/m 2 surface area/day) Urinary inhibitors of calcium oxalate crystallization: Orthophosphate treatment (20-30 mg/kg body weight/day) Potassium citrate (0.1-0.15 g/kg body weight/day) Dialysis Because the plasma oxalate concentration begins to rise when the renal clearance is less than 40 mL/min/1.73 m 2 , early initiation of dialysis or preemptive kidney-only transplantation is preferred. ... Individuals with preserved renal function (i.e., measured or estimated GFR ≥60 mL/min/1.73 m 2 ) require the following to evaluate/ensure treatment efficacy: Biannually. ... Individuals with a GFR <60 mL/min/1.73 m 2 should have the above evaluations performed quarterly, as well as the following testing annually to evaluate for involvement of other organ systems apart from the renal tract. ... Measure every four to six months until GFR falls below 15 mL/min/1.73 m 2 when levels will be noted to rise in keeping with renal impairment and may become more difficult to interpret.
- Primary Hyperoxaluria Type 2 Gard
  
  Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
Linguatulosis Wikipedia

Archived from the original (PDF) on 2011-07-24. ^ M. A. C. Machado; F. F. Makdissi; L. ... Lazo; E. Hidalgo; J. E. Lazo; A. Bermeo; M. Llaguno; J. Murillo; V. P. A. Teixeria (1999). ... Büttner; P. Ströbel; A. Stich; H. Klinker; M. Frosch (2006). "Linguatuliasis in Germany" . Emerging Infectious Diseases . 12 (6): 1034–1036. doi : 10.3201/eid1206.051413 . PMC 3293438 . ^ M. R. Siavashi; M. Assmat; A. Vatankhah (2002). ... A.; Mustafa E. R.; Mahmoud B.; Saad M.; Sulaiman M. B. A.; A. M. El Hassan (1996).
Central Nervous System Cavernous Hemangioma Wikipedia

N.; Mettler, G.; Morrison, L.; Gil-Nagel, A.; Rich, S. S.; Zabramski, J. M.; Boguski, M. S.; Green, E.; Marchuk, D. ... PMID 8596595 . ^ Liquori, C. L.; Berg, M. J.; Siegel, A. M.; Huang, E.; Zawistowski, J. ... PMID 16037064 . ^ Bergametti, F.; Denier, C.; Labauge, P.; Arnoult, M.; Boetto, S.; Clanet, M.; Coubes, P.; Echenne, B.; Ibrahim, R.; Irthum, B.; Jacquet, G.; Lonjon, M.; Moreau, J. ... PMID 15543491 . ^ Liquori, C. L.; Berg, M. J.; Squitieri, F.; Ottenbacher, M.; Sorlie, M.; Leedom, T. P.; Cannella, M.; Maglione, V.; Ptacek, L.; Johnson, E.

KRIT1, CCM2
Pneumocytic Hyperplasia Wikipedia

PMC 3568416 . PMID 23379654 . ^ Ishii, M; Asano, K; Kamiishi, N; Hayashi, Y; Arai, D; Haraguchi, M; Sugiura, H; Naoki, K; Tasaka, S; Soejima, K; Sayama, K; Betsuyaku, T (2012). ... PMID 22884294 . ^ Shintani, Y; Ohta, M; Iwasaki, T; Ikeda, N; Tomita, E; Nagano, T; Kawahara, K (2010). ... PMID 20190710 . ^ Kobashi, Y; Sugiu, T; Mouri, K; Irei, T; Nakata, M; Oka, M (2008). "Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: Differentiation from multiple atypical adenomatous hyperplasia" .
Sclerosteosis Wikipedia

References [ edit ] ^ a b c d e Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (Mar 2001). ... PMID 13539104 . ^ Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (Feb 2002).

LRP4, SOST, LRP5, BMP6, COL1A1, MEOX1, NOG
- Sclerosteosis 2 Omim
  
  A number sign (#) is used with this entry because of evidence that sclerosteosis-2 (SOST2) is caused by heterozygous or homozygous mutation in the LRP4 gene (604270) on chromosome 11p11. Description Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500). Clinical Features Bueno et al. (1994) described a 17-year-old Spanish patient with sclerosteosis.
- Sclerosteosis Orphanet
  
  Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
- Sclerosteosis 1 Omim
  
  A number sign (#) is used with this entry because of evidence that sclerosteosis-1 (SOST1) is caused by homozygous mutation in the gene encoding sclerostin (SOST; 605740) on chromosome 17q21. Description Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). Genetic Heterogeneity of Sclerosteosis Sclerosteosis-2 (SOST2; 614305) is caused by mutation in the LRP4 gene (604270) on chromosome 11p11. Clinical Features Sclerosteosis is a term that was applied by Hansen (1967) to a disorder similar to van Buchem hyperostosis corticalis generalisata (239100) but differing in radiologic appearance of the bone changes and in the presence of asymmetric cutaneous syndactyly of the index and middle fingers in many cases.
Identity Disturbance Wikipedia

. ^ Neacsiu, A. D., Herr N. R., Fang C. M., Rodriguez M. A., Rosenthal M. Z. (2015). ... Journal of Cognitive Neuroscience' , 19, 935–944. ^ Kelley, W. M., Macrae, C. N., Wyland, C. L., Caglar, S., Inati, S., Heatherton, T.F. (2002). ... A., Akbudak, E., Shulman, G. & Raichle, M. E. (2001) "Medial prefrontal cortex and self-referential mental activity: Relation to a default mode of brain function." Proceedings of the National Academy of Sciences 98 (7), 4259–4264. doi : 10.1073/pnas.071043098 ^ Lou, H. C., Luber, B., Crupain, M., Keenan, J. P., Nowak, M., Kjaer, T. ... SCAN , 9, 12-21. ^ Kluetsch RC, Schmahl C, Niedtfeld I, Densmore M, Calhoun VD, Daniels J, Kraus A, Ludaescher P, Bohus M, Lanius RA. (2012).
Sponastrime Dysplasia Wikipedia

Am J Med Genet 92: 33-39 ^ Gripp KW, Johnson C, Scott CI, Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ (2008) Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. ... Clin Dysmorph 8: 79-85 ^ Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ (2019) Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. Am J Hum Genet 104(3):439-453 ^ Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M30, Cohn DH31, Krakow D32, Jackson AP33, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B (2019) Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet 104(3):422-438 ^ O'Donnell L, Panier S, Wildenhain J, Tkach JM, Al-Hakim A, Landry MC, Escribano-Diaz C, Szilard RK, Young JT, Munro M, Canny MD, Kolas NK, Zhang W, Harding SM, Ylanko J, Mendez M, Mullin M, Sun T, Habermann B, Datti A, Bristow RG, Gingras AC, Tyers MD, Brown GW, Durocher D (2010) The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination.

TONSL
- Sponastrime Dysplasia Orphanet
  
  A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type Omim
  
  A number sign (#) is used with this entry because of evidence that the sponastrime type of spondyloepimetaphyseal dysplasia (SEMDSP) is caused by homozygous or compound heterozygous mutation in the TONSL gene (604546) on chromosome 8q24. Description Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Aquagenic Urticaria Wikipedia

.; Black, A. K.; Eady, R. A.; James, M; Greaves, M. W. (1981). "Aquagenic urticaria: Evidence of cholinergic and histaminergic basis". ... F.; Rogala, B; Saini, S; Sánchez-Borges, M; Schmid-Grendelmeier, P; Schünemann, H; Staubach, P; Vena, G. ... S2CID 21174848 . ^ Yavuz, S. T.; Sahiner, U. M.; Tuncer, A; Sackesen, C (2010). "Aquagenic urticaria in 2 adolescents". ... Allergy and Asthma Proceedings . 25 (3): 195–7. PMID 15317326 . ^ Hide, M; Yamamura, Y; Sanada, S; Yamamoto, S (2000). ... PMID 10877142 . ^ Wong, E; Eftekhari, N; Greaves, M. W.; Ward, A. M. (1987). "Beneficial effects of danazol on symptoms and laboratory changes in cholinergic urticaria".
- Urticaria, Aquagenic Omim
  
  Shelley and Rawnsley (1964) described urticaria on contact with water. Heat or cold had no effect. Bonnetblanc et al. (1979) reported aquagenic urticaria in a woman and her paternal aunt. Inheritance - Autosomal dominant Skin - Urticaria on contact with water - No effect of heat or cold ▲ Close
- Aquagenic Urticaria Gard
  
  Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.
Leprosy Wikipedia

It may also lead to sensation abnormalities or numbness , which may lead to additional infections, ulcerations, and joint deformities. [31] Paucibacillary leprosy (PB): Pale skin patch with loss of sensation Skin lesions on the thigh of a person with leprosy Hands deformed by leprosy Cause [ edit ] M. leprae and M. lepromatosis [ edit ] Main articles: Mycobacterium leprae and Mycobacterium lepromatosis M. leprae , one of the causative agents of leprosy: As an acid-fast bacterium, M. leprae appears red when a Ziehl-Neelsen stain is used. ... They found four strains of M. leprae with specific regional locations. ... S2CID 40027505 . ^ a b c d e f g h i j k l m n o p q r s t u v w x "Leprosy Fact sheet N°101" . ... PMID 25234460 . S2CID 207046489 . ^ Monot M, Honoré N, Garnier T, Araoz R, Coppee JY, et al. (2005). ... PMC 4871561 . PMID 27192199 . ^ Alcaïs A, Mira M, Casanova JL, Schurr E, Abel L (2005).

CCDC88B, SLC11A1, TLR2, TLR1, IL23R, RAB32, BATF3, LTA, HLA-DRB1, LACC1, CCDC122, TNFSF15, C1orf141, HLA-B, PRKN, TNF, RIPK2, SIGLEC5, IL18R1, IL10, IL1RL1, LINC02571, DELEC1, FILIP1, BBS9, COX4I1, CDH18, SLC2A13, RMI2, SNX20, LINC01091, WASF5P, UBE2V1P15, LINC00690, IFNG, NOD2, VDR, LRRK2, SDHD, PACRG, IL6, MBL2, RBM45, TLR4, MICA, ERBB2, IL4, IL12B, BTNL2, HLA-A, HSPD1, HLA-DQA1, IL2, GEM, S100A6, DDX39A, SLC26A3, MRC1, NGF, CFP, CCL4, CFH, DDX39B, TOLLIP, TGFBR2, KIR3DL1, CTLA4, IL17F, SLC7A9, IL2RA, HSD11B2, APOE, IL1B, IL10RB, CXCL10, IL17A, IL12RB2, BCHE, CD209, ACTG2, IL22, CCR2, TOR1B, FOXP3, NT5C3A, POTEM, CD274, IL37, CYP2E1, PARL, CYP19A1, ACAD8, RNU1-1, NUPR1, H3C9P, SPAG8, PTPN22, NLRP1, ACOT7, ACTG1, POTEKP, EMC3, CR1, ADGB, PWAR1, CASP8, APOA1, STING1, CD14, TNFSF8, CD40, IRGM, TIRAP, CD40LG, DEFB1, ACTBL2, IL26, GAL3ST4, SLC52A2, PINK1, CCR5, ANXA2, ZNF410, HAMP, MAVS, AKR1B10, ANXA1, FMNL1, HLA-DQB1, SOCS1, MASP2, MFN2, PCK1, HIF1A, PAEP, NOS2, NFKBIL1, MPZ, MNAT1, MICB, CIITA, LTB, LGALS3, LDLR, KIR3DL2, KIR2DS1, KDR, ISG20, IL15, IL13RA1, IL13, IL10RA, HLA-C, CXCR2, IL5RA, IL1RN, IL1A, IGF1, HSPE1, POLG, PREP, RNU1-4, FLNA, BMS1, FHL5, IL32, MAP3K14, BCL10, NR1I2, F2R, FCN1, FCN2, HLA-DRB4, FCN3, VEGFA, TOP2A, S100A1, CXCR3, GSTM1, TGFBR1, TGFB1, TFAM, TAP1, STAT3, SOD2, SLAMF1, ACACA, CCL3, S100B, SERPINA3
- Leprosy, Susceptibility To, 1 Omim
  
  Rambukkana et al. (1997) demonstrated that M. leprae binds to the G domain of the alpha-2 chain of laminin-2 (LAMA2; 156225). ... ADRP expression was induced in a monocyte cell line when live, but not dead, M. leprae was added. M. leprae could also inhibit the normal suppression of ADRP and PLIN1 expression mediated by peptidoglycan, a TLR2 ligand. ... Measurement of uncultivable Mycobacterium leprae viability based on the ratio of M. leprae 16S rRNA to M. leprae repetitive element DNA indicated that IFNG (147570) induced antimicrobial activity against M. leprae in monocytes by about 35%, which was abrogated by the addition of either IFNB or IL10. ... A 312-bp COL3A1 allele was significantly associated with nonresponsiveness to M. leprae antigens in vitro (p = 0.01). ... Patients and controls reported an absence of M. tuberculosis and other chronic infections.
- Leprosy, Susceptibility To, 5 Omim
  
  Using luciferase reporter analysis, Misch et al. (2008) observed reduced NFKB (see 164011) activity in embryonic kidney cells transfected with the 1805G TLR1 variant following stimulation with extracts of M. leprae compared with cells transfected with the 1805T TLR1 variant. Peripheral blood mononuclear cells from individuals homozygous for 1805G had significantly reduced proinflammatory cytokine responses following stimulation with whole M. leprae or cell wall extracts. In 933 Nepalese leprosy patients, including 238 with the inflammatory reversal reaction, the 1805G allele was associated with protection from reversal reaction (OR of 0.51).
- Leprosy, Susceptibility To, 2 Omim
  
  Mira et al. (2004) noted that both genes are linked to the ubiquitin-mediated proteolysis system, which heretofore has received little attention in the study of leprosy pathogenesis and the control of M. leprae in the human host. Malhotra et al. (2006) studied an ethnically homogeneous population of Indian leprosy patients and controls for associations with SNPs in the common regulatory region of PARK2 and PACRG.
- Leprosy, Susceptibility To, 3 Omim
  
  A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS3) is associated with a polymorphism in the TLR2 gene (603028) on chromosome 4q32. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS3 is associated with a polymorphism in the TLR2 gene, which Rock et al. (1998) mapped to chromosome 4q32. Molecular Genetics Kang and Chae (2001) identified an arg677-to-trp polymorphism (R677W; 603028.0001) in the intracellular domain of TLR2 in 10 (22%) of 45 Korean lepromatous leprosy patients, but not in any of 41 Korean tuberculoid patients or 45 Korean controls. They concluded that the R677W polymorphism in TLR2 has a role in susceptibility to lepromatous leprosy.
- Leprosy, Susceptibility To, 6 Omim
  
  Patients and controls reported an absence of M. tuberculosis and other chronic infections.
- Leprosy Orphanet
  
  About 40% of patients may develop 2 types of reactional states: 1) reversal reaction (RR; inflammation of the skin lesions and severe acute neuritis) or down-grading reaction (increased number of lesions) and 2) erythema nodosum leprosum (ENL; vasculitis with painful and eruptive erythematous nodules, fever, neuritis and joint swelling) or Lucio's phenomenon (granulomatous vasculitis with painful necrotic macules). Etiology The disease is caused by M. leprae , a mycobacterium for which the main reservoir is humans and some species of armadillos. Recently M. lepromatosis was identified as causing some LLep cases. ... PCR assays in tissue may accurately detect M. leprae 's 16s rRNA in LLep cases and gene mutations inducing antibiotic resistance.
- Leprosy, Susceptibility To, 4 Omim
  
  A number sign (#) is used with this entry because susceptibility to early-onset leprosy is associated with a polymorphism in the LTA gene (153440) on chromosome 6p21.3. This polymorphism accounts, in part, for susceptibility to leprosy linked to chromosome 6p21.3 (LPRS4). However, additional genetic risk factors likely underlie susceptibility to leprosy linked to chromosome 6p21.3. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Mira et al. (2003) detected a linkage peak associated with leprosy in the 6p21 chromosomal region, which fine mapping placed close to D6S2427 (lod = 2.7).
- Hansen's Disease Gard
  
  Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes . After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions ; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition.
Asteroid Hyalosis Wikipedia

The cause of asteroid hyalosis is unknown, but it has been associated with diabetes mellitus , [2] hypertension , hypercholesterolemia , [3] and, in certain animals, tumors of the ciliary body . [4] In dogs, asteroid hyalosis is considered to be an age related change. [5] The asteroid bodies are made up of hydroxylapatite, which in turn consists of calcium and phosphates or phospholipids . [6] While asteroid hyalosis does not usually severely affect vision, the floating opacities can be quite annoying, and may interfere significantly with visualization and testing of the retina . [7] While treatment of asteroid hyalosis is usually unnecessary, vitrectomy may occasionally be indicated, for both diagnostic and therapeutic purposes. [8] [9] See also [ edit ] Synchysis scintillans References [ edit ] ^ Wang M, Kador P, Wyman M (2006). "Structure of asteroid bodies in the vitreous of galactose-fed dogs". Mol Vis . 12 : 283–9. PMID 16617295 . ^ Akram A, Niazi M, Ishaq M, Azad N (2003). "Frequency of diabetics in asteroid hyalosis patients". ... PMID 12231337 . ^ Olea Vallejo J, Muñoz Corrales E, Mateos Poch J, Mulet Perera P, Suñer Capo M (2002). "[Vitrectomy for asteroid hyalosis]". ... PMID 11973661 . ^ Feist R, Morris R, Witherspoon C, Blair N, Ticho B, White M (1990). "Vitrectomy in asteroid hyalosis".

ARL3, COL2A1
Granulomatous Slack Skin Wikipedia

ISBN 978-0-7216-2921-6 . ^ Teixeira, M.; Alves, R.; Lima, M.; Canelhas, A.; Rosário, C.; Selores, M. (2007). ... CS1 maint: DOI inactive as of January 2021 ( link ) ^ Chen, M.; Qiu, B.; Kong, J. (Feb 2000). "Granulomatous slack skin: a case of unusual variant of mycosis fungoides".
- Granulomatous Slack Skin Orphanet
  
  Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. Epidemiology Less than 50 cases have been reported in the literature so far. GSS predominantly affects males (sex ratio: 2.9:1). Clinical description Onset usually occurs in adulthood. The disease is characterized by the slow development of large areas of pendulous, lax skin in the major skin folds (axillae and groins). Although GSS is considered as a variant of MF, an association with Hodgkin lymphoma was observed in approximately one-third of the reported patients.
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency Orphanet

A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.

LDHA
- Lactate Dehydrogenase Deficiency Medlineplus
  
  Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria).
- Glycogen Storage Disease Xi Omim
  
  Clinical Features Kanno et al. (1980) described a family with deficiency of the muscle (M) isoform of LDH (LDHA). The proband was an 18-year-old male who complained of exertional myoglobinuria and easy fatigue.
- Lactate Dehydrogenase A Deficiency Gard
  
  Lactate dehydrogenase A deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue ( rhabdomyolysis ), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene.
Kosaki Overgrowth Syndrome Wikipedia

. ^ Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba, K, Toyama Y, Matsumoto M (2011) Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ... J Pediat 166: 483-486 ^ Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Akdemir ZHC, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M (2017) Phenotype expansion and development in Kosaki Overgrowth Syndrome.

PDGFRB, AKT1, PIK3CA, PIK3CB, PIK3CD, PIK3CG
- Kosaki Overgrowth Syndrome Omim
  
  A number sign (#) is used with this entry because of evidence that Kosaki overgrowth syndrome (KOGS) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32. Description Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015). Clinical Features Takenouchi et al. (2015) described 2 unrelated Japanese girls with an overgrowth syndrome who exhibited strikingly similar facial features as well as hyperelastic, fragile skin, scoliosis, white matter lesions, and neurologic deterioration.
- Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome Orphanet
  
  A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.