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  • Small-Blue-Round-Cell Tumor Wikipedia
    Nature Genetics . 27 (4s): 64. doi : 10.1038/87150 . ^ a b c d e Chen QR, Vansant G, Oades K, Pickering M, Wei JS, Song YK, et al. ... PMID 29977059 . S2CID 49571421 . ^ Gray W, Kocjan G. Diagnostic Cytopathology; . p.307
  • Necrotising Hepatopancreatitis Wikipedia
    Avoiding such conditions in shrimp ponds is thus an important disease control measure. [5] References [ edit ] ^ a b Melba G. Bondad-Reantaso; S. E. McGladdery; I. ... FAO Fisheries Technical Paper 402/2, NACA/FAO 2001. p. 207, "Chapter 4". ISBN 92-5-104620-4 . ^ a b Melba G. Bondad-Reantaso; S. E. McGladdery; I.
  • Melanoma, Cutaneous Malignant, Susceptibility To, 9 Omim
    Molecular Genetics Using target-enriched high-throughput sequencing of a region on chromosome 5p identified by linkage analysis in a family segregating cutaneous malignant melanoma, Horn et al. (2013) identified a T-to-G transversion at the -57 position from the ATG translation start site of TERT (187270.0023) in all 4 affected family members sequenced and in 1 unaffected family member. ... Horn et al. (2013) identified recurrent ultraviolet signature mutations in the TERT core promoter in 125 of 168 cell lines (74%), in 45 of 53 corresponding metastatic tumor tissues (85%) and in 25 of 77 (33%) primary melanomas. Two frequent mutations, G-to-A (C-to-T on the opposite strand) transitions at positions -124 and -146, were mutually exclusive and occurred in 27% and 38% of cell lines, respectively.
    CDKN2A, MC1R, MGMT, CDK4, CDKN2B, ACD, TERF2IP, POT1, BAP1, TERT, MITF, H3P10, CMM, IFNA13, IFNA2, IFNA1, HRAS, IFN1@, IFNA17, XPA, CHRM1, HPRT1, XRS, TP53, TYR, PTH, NPPA, MYCL, CDK2, BRCA2
    • Melanoma, Cutaneous Malignant, Susceptibility To, 6 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-6 (CMM6) is conferred by variation in the XRCC3 gene (600675) on chromosome 14q32. Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600. Molecular Genetics Exposure to UV radiation is a major risk factor for the development of malignant melanoma. DNA damage caused by UV radiation is thought to play a major role in carcinogenesis.
    • Melanoma, Cutaneous Malignant, Susceptibility To, 3 Omim
      A number sign (#) is used with this entry because mutation in the gene encoding cyclin-dependent kinase-4 (CDK4; 123829) increases susceptibility to this form of cutaneous malignant melanoma (CMM3). Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. Molecular Genetics In a human cutaneous malignant melanoma cell line, Wolfel et al. (1995) identified a mutation in the CDK4 gene (R24C; 123829.0001). The same mutation was found in 1 additional melanoma among 28 melanomas analyzed.
    • Melanoma, Cutaneous Malignant, Susceptibility To, 4 Omim
      Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600. Mapping It is estimated that 10% of CMM cases have an inherited predisposition. Although mutations in 2 genes, CDKN2A (600160) and CDK4 (123829), confer an increased risk of CMM, they account for only 20 to 25% of families with multiple cases of CMM. To localize additional loci involved in CMM susceptibility, Gillanders et al. (2003) performed a genomewide scan for linkage in 49 Australian pedigrees containing at least 3 CMM cases in which CDKN2A and CDK4 involvement had been excluded.
    • Melanoma, Cutaneous Malignant, Susceptibility To, 5 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-5 (CMM5) is conferred by variation in the gene encoding melanocortin-1 receptor (MC1R; 155555) on chromosome 16q24. Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. Mapping Bishop et al. (2009) reported a genomewide association study of melanoma conducted in the GenoMEL consortium based on 317,000 tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional 2 cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genomewide screen identified 5 loci with genotypes or imputed SNPs reaching P less than 5 x 10(-7).
    • Melanoma, Cutaneous Malignant, Susceptibility To, 10 Omim
      A number sign (#) is used with this entry because susceptibility to cutaneous malignant melanoma-10 (CMM10) is conferred by heterozygous mutation in the POT1 gene (606478) on chromosome 7q31. Mutation in the POT1 gene can also caused glioma susceptibility-9 (GLM9; 616568). For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600. Clinical Features Robles-Espinoza et al. (2014) reported 4 unrelated families in which at least 2 members developed cutaneous malignant melanoma. Two patients developed non-melanoma cancers, and several family members had a history of non-melanoma cancers, suggesting increased susceptibility to a range of cancers.
    • Melanoma Medlineplus
      Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes . This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma ) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults. Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths.
    • Melanoma, Malignant Familial Intraocular Omim
      Bowen et al. (1964) reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. Davenport (1927) reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, Greene et al. (1983) concluded that these associations may be coincidental. Eyes - Malignant intraocular melanoma Inheritance - Autosomal dominant ▲ Close
    • Familial Melanoma Orphanet
      Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. Epidemiology FM is thought to account for about 10% of all cases of cutaneous melanoma. Melanoma primarily affects populations of European origin. Incidence is higher in geographical regions with greater sun exposure (southern USA, Australia, New Zealand). Incidence was estimated at 1/90,000 in Europe in 2012. Clinical description Familial melanoma tends to occur earlier than non-familial melanoma. The average age of onset is often between 30 and 40 years, while non-familial melanoma typically occurs in the general population between 50 and 60.
    • Melanoma, Cutaneous Malignant, Susceptibility To, 2 Omim
      A number sign (#) is used with this entry because heterozygous mutation in the p16 gene (CDKN2A; 600160) on chromosome 9p21 increases susceptibility to one form of cutaneous malignant melanoma (CMM2). Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). Inheritance Bergman et al. (1986) studied extensively affected kindreds in an ancient fishing village in the neighborhood of Leiden, the Netherlands. Autosomal dominant inheritance of dysplastic nevi was confirmed. In 6 pedigrees, 33 patients with melanoma occurred.
  • Gartner's Duct Cyst Wikipedia
    PMID 12913681 . ^ Arumugam A, Kumar G, Si L, Vijayananthan A (October 2007). ... PMC 3097688 . PMID 21614298 . ^ Currarino G (November 1982). "Single vaginal ectopic ureter and Gartner's duct cyst with ipsilateral renal hypoplasia and dysplasia (or agenesis)".
  • Recessive X-Linked Ichthyosis Orphanet
    Management and treatment Treatment consists in hydrating and softening the skin with the use of lubricating bath oils and emollients containing humectants and keratolytics (e. g. urea, lactic acid, and glycolic acid). For adult patients systemic retinoids are an option, e. g. during winter, when the ichthyosis is often more severe.
    STS, MDM2, TP53, FLG, EGFR, AKT1, SMUG1, CRP, PDGFRA, CDKN2A, PTEN, VCX3A, TNF, VEGFA, CD274, ANOS1, HIF1A, ABCB1, BRCA1, IGF1, SERPINE1, HEATR3, EWSR1, VIM, PARP1, MSH2, MMP9, RASSF1, MLH1, HSPB1, HSPB2, HSPB3, KDR, KIT, ABCC1, PDCD1, DMD, EGF, PECAM1, CTNNB1, CD44, MUC5B, CHEK1, BCL2, CREG1, LGR5, STAT3, MLRL, PUDP, TNFSF10, TGFB1, STAR, SS18, SSX2, SPP1, TERT, TIMP1, HMGA2, TGM1, THBD, FOSL1, TIMP2, TOP2A, WNT5A, BEST1, VIP, TST, TYMS, EZR, VEGFC, FBP2, RAB40B, CFLAR, MIR215, RTN4R, IL33, PRIMA1, SUMF1, LPP-AS2, MIRLET7I, MIR152, MIR210, MIR34B, MIB1, VCX3B, MIR429, PRB2, SSX2B, MIR1226, PSC, EMSLR, LOC110806263, HIF3A, NLGN4X, PROM1, MAPK8IP2, PCLAF, GAB2, TACC3, HPSE, SHBG, SPINK5, CHEK2, TBC1D9, VCX, DEPDC1B, HPGDS, SETD2, PYCARD, FOXP3, UBASH3A, MIEF1, KRT20, PIWIL2, SMARCB1, PIK3CD, CX3CL1, CSPG4, TIMM8A, ELANE, EPAS1, STOM, EPHB2, EPHB4, ERBB2, ERCC1, ERCC2, ERCC5, PTK2B, FGFR1, FMR1, FOS, MTOR, GLB1, GSTA1, GADD45A, CSF2, CFH, COL11A2, ALB, ALK, ANXA5, ARSA, ATF1, BMP2, BRAF, BRCA2, CA9, CASP3, CD8A, MS4A1, CD47, CD68, CDK1, CDC25C, COL7A1, HCCS, HPGD, CCL7, NRAS, SERPINA5, ABCB4, PIK3CA, PIK3CB, PIK3CG, PIK3R2, PLAGL1, POLD1, PRKCB, MAPK1, MAPK8, KLK7, PSD, RARA, RASGRF1, BRD2, CCL2, PEBP1, NME1, HRAS, MYC, HTC2, IRF8, IDS, IGF2, IL1B, IL6, LAG3, LAMB1, LGALS1, MDM4, MGMT, MITF, MKI67, MMP2, MRC1, MTAP, MUC1, H3P10
    • X-Linked Ichthyosis Wikipedia
      . ^ Online Mendelian Inheritance in Man (OMIM): ICHTHYOSIS, X-LINKED - 308100 ^ a b Ballabio A, Parenti G, Carrozzo R, et al. (1987). "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis" . ... PMID 3480541 . ^ Basler E, Grompe M, Parenti G, Yates J, Ballabio A (March 1992). ... id=10.1371/journal.pone.0212330 ^ Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE (1984).
  • Glucocorticoid Deficiency 1 Wikipedia
    S2CID 19104175 . ^ Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ (October 2009).
    MC2R, MRAP, STAR, TXNRD2, NNT, POMC, FGD1, IGF1, RASGRF1, SOS1, AAAS, ACD
    • Glucocorticoid Deficiency 3 Omim
      Description Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by Genin et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). Mapping Genin et al. (2002) found evidence of linkage to chromosome 8q in 3 of 14 families with glucocorticoid deficiency and no mutations in the MC2R gene. These 3 families were consanguineous, and the locus, which they called FGD2, could be mapped by homozygosity between markers D8S285 and D8S1718 in an 8.8-cM region spanning 8q11.2-q13.2.
    • Familial Glucocorticoid Deficiency Orphanet
      Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Epidemiology The prevalence is unknown. In Ireland there is a prevalence of around 1/200,000, but this is likely to be skewed by a high prevalence in the Irish Traveler sub-population. Clinical description FGD usually presents in infancy or early childhood with hyperpigmentation of the skin and gums (present at birth or that develops over time), hypoglycemic seizures and failure to thrive. Recurrent infections are also a common finding (and may be the presenting sign in older children). Weakness, fatigue, weight loss, anorexia, vomiting, flank or abdominal pain, constipation and diarrhea are additional symptoms seen in some patients due to hypocortisolemia.
    • Familial Glucocorticoid Deficiency Medlineplus
      Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids . These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive).
    • Glucocorticoid Deficiency 1 Omim
      Nephrogenic diabetes insipidus (304800) had previously been shown to be due to a defect in a G protein-coupled receptor. Heterogeneity Although mutations in the ACTHR gene were demonstrated in some families (e.g., 607397.0001), no mutation was found in the gene in other families.
  • Hepatitis C Virus, Susceptibility To Omim
    Dawes et al. (2006) found that there were twice as many 77C-G heterozygotes among HCV-infected patients than in a healthy UK control population; no 77C-G homozygotes were observed in either group. In addition, there were twice as many 77C-G heterozygotes among chronic HCV carriers than in individuals who resolved HCV infection. ... Individuals heterozygous for 77C-G also showed more rapid dephosphorylation tyr505 of LCK (153390) after in vitro stimulation. ... Analysis of individuals discordant at these SNPs revealed that TT/-G was a better marker than rs12979860 for HCV clearance and showed that the -G allele was associated with reduced clearance, regardless of viral genotype. ... Bibert et al. (2013) proposed that there is a strong link between the mutant -G allele of TT/-G, reduced expression of IL28B and IP10, and HCV treatment failure.
  • Anemia Wikipedia
    The anemia is also classified by severity into mild (110 g/L to normal), moderate (80 g/L to 110 g/L), and severe anemia (less than 80 g/L) in adult males and adult non pregnant females. [47] Different values are used in pregnancy and children. [47] Testing [ edit ] Anemia is typically diagnosed on a complete blood count. ... A.; Neal, Keith; Al-Hassi, Hafid Omar; Brookes, Matthew J.; Acheson, Austin G. (December 2019). "Iron therapy for preoperative anaemia" . ... National Heart Lung and Blood Institute . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Table 12-1 in: Mitchell RS, Kumar V, Abbas AK, Fausto N (2007). ... PMID 27672287 . ^ Catassi C, Bai JC, Bonaz B, Bouma G, Calabrò A, Carroccio A, Castillejo G, Ciacci C, Cristofori F, Dolinsek J, Francavilla R, Elli L, Green P, Holtmeier W, Koehler P, Koletzko S, Meinhold C, Sanders D, Schumann M, Schuppan D, Ullrich R, Vécsei A, Volta U, Zevallos V, Sapone A, Fasano A (September 2013). ... S2CID 38832868 . ^ Gale RP, Barosi G, Barbui T, Cervantes F, Dohner K, Dupriez B, et al.
    HAMP, REN, SLC46A1, EPO, GATA1, SLC40A1, TNF, HBB, CSF3, HP, ALAS2, MTHFR, PTH, IFNA2, CSF2, TYMS, IL3, CLEC11A, PARP1, AGT, SOD2, PRL, CDK6, TF, IL2, NUP98, ASPG, ACHE, GSR, ATP7A, TNFRSF10A, HOXD13, KRAS, SLC25A37, IGF2, ATG5, ATG7, IREB2, JAK2, BMP6, ALAD, HBA1, ITPA, GPX1, HBA2, TFRC, KLF1, HBG2, CP, ACAD8, HBG1, TTR, IFNG, CALR, TP53, KIT, IL12B, TFR2, GBA, MPL, TGFB1, STAT3, F2, MUC1, PDGFRA, MPIG6B, GLRX5, MECOM, FANCB, FIP1L1, TET2, IGH, COX4I2, LCAT, THRA, SMAD4, MARS1, FANCA, HLA-B, COX10, TERT, CAD, PRKAR1A, STAT5B, RMRP, APOA1, CASR, ANK1, ACVRL1, SEC61A1, ABCA1, COQ2, TRNT1, UBE2T, PRF1, SNX10, ITGA2B, SDHA, SDHC, SDHB, ALX4, GNA14, FAM111A, NOD2, IFIH1, ITGB3, NLRC4, ITK, SCO1, OSTM1, RPS27, RPS26, RPS15A, KRT14, RPS10, LAMA3, LAMB3, LAMC2, RRM2B, COG6, RPL27, LIG4, IL7R, TERC, IL6, ALG8, HPRT1, HPGD, NDUFAF3, HMGCL, SRP54, TALDO1, SURF1, IDH1, HIF1A, NDUFAF5, GNPTAB, HELLS, KIF1B, FASTKD2, STK11, TBCE, DCLRE1C, TBXAS1, IGLV10-54, IL2RG, RPL26, VPS45, MLX, IFNGR1, FOXP1, IDH2, SLCO2A1, NABP1, ACD, TINF2, SP110, ZBTB20, LIPA, NDUFA12, KIF15, SLC11A2, PCCA, PARN, PSMB9, OCRL, SBDS, NUMA1, SAMD9, PCNT, NPM1, NPHP1, BCOR, PTH1R, NSUN2, SARS2, PCCB, PSMB8, NDUFA13, LARS1, PRKACG, PHF21A, POLG, PML, PLEC, PSAP, PHKG2, PDHA1, PHKA2, LIPT1, RTEL1, PSMB4, PFKM, PEPD, MALT1, YARS2, SH2D1A, FERMT1, TRNS1, TRNN, MTRR, FOXP3, FOXRED1, RAG1, MMP1, MMUT, CHD7, NHP2, RAG2, RARA, SMARCAL1, TACO1, ABCD4, NOP10, FANCL, NDUFV1, WRAP53, PNPO, STEAP3, NDUFV2, NDUFS8, NDUFS4, NDUFS3, NDUFA2, NDUFS2, NDUFS1, NDUFB8, NDUFA10, NDUFA9, NDUFA4, ITGB4, VPS33A, EFL1, AASS, CRP, COX15, COX8A, COX6B1, COL17A1, COL7A1, MMAA, FARSB, CLCN7, LYST, UBR1, SCO2, UNC13D, SAMD9L, PTF1A, NPHP4, IFNL3, GTF2E2, FGF23, XRCC4, SLC25A13, ELANE, NLRP3, ECHS1, TYMP, DNMT3B, MYSM1, ZBTB16, COX20, DKC1, MTFMT, RNF113A, TCIRG1, DNAJC21, DBH, MPLKIP, NDUFAF6, CTSK, SCARB2, TNFSF11, MMAB, STING1, PLEKHM1, PET100, ZBTB24, ALPL, ALB, AK2, COG1, RECQL4, CRIPT, AGXT, IFT140, KIF23, ADA, ACVR1, ACTN4, RN7SL263P, ABCB7, AIRE, BIRC3, XIAP, ERCC6L2, CA2, IRF2BP2, BTK, BRCA1, BMPR1A, NDUFS7, CCND1, STX11, SLC7A7, ATRX, ATP7B, GTF2H5, TNFRSF11A, CISD2, BCL10, RBM8A, ENG, STIM1, FANCE, LYRM7, GPT, FANCD2, ERCC2, TBL1XR1, ERCC3, IKZF1, FANCC, TMEM67, EWSR1, MAD2L2, NHEJ1, UMPS, GLA, EXT2, CTC1, COX14, WFS1, ERBB3, FANCG, NDUFAF2, SLX4, FMO3, WT1, FLI1, COA8, G6PC3, CDCA7, FERMT3, SLC19A3, G6PC, ORAI1, G6PD, USB1, PUS1, TMPRSS6, PAEP, HFE, IFNA13, IFNA1, RPS19, IL1B, EPAS1, CHMP2B, ACE, DMRT1, ERFE, TLR9, ABO, IL10, IDUA, PON1, COPD, TGM2, NFE2L2, SLC19A2, JAK1, EPOR, SF3B1, CYGB, CD59, ABCB1, IGF1, GDF15, MIR144, HEPH, PKLR, LCN2, MPO, FCGR2A, VEGFA, SLC28A2, GSTP1, CXCL8, SLC29A1, IL1A, GABPA, THAS, ICAM1, GBAP1, IL18, IL17A, SOD1, EGLN1, CEACAM5, CD274, SEC23B, SLC17A5, B2M, GSTT1, AKT1, ABL1, MIR146A, RARS1, SLC6A8, SLC11A1, TNFSF10, KL, ACR, BACH1, HMOX1, ERVK-20, IFNAR1, SOAT1, ASF1A, ERVW-1, FAS, GATA2, CCL21, TBX1, SETD2, SCD, NOS2, BCL2, CDKN2A, UGT1A1, ERVK-6, LOH19CR1, RLS1, NCOA5, INSRR, BMP4, TLR4, DNASE2, FABP1, VWF, F10, GDF11, KDR, CYP2C8, CD55, DECR1, HPSE, APOA5, MTX1, SLC28A3, CAV2, BPIFA4P, EPCAM, FLOT2, IL2RA, VDR, CA5A, CALCR, CAT, CAV1, EGFR, ERCC1, FTMT, CD34, CD40LG, MBL2, CD47, PGK1, ARL6IP5, GIPC1, IVNS1ABP, PDLIM5, RASA3, TNFSF13B, RTN3, TXNRD2, TRIM13, PPARGC1A, PCLAF, TREX1, BCL2L11, BTG3, KCNE2, NR1D2, GNLY, ADRM1, MFN2, ADAMTS13, AMMECR1, PROCR, NR1I3, NAT2, ARHGEF12, TSPAN33, OR10A4, ALKBH3, JMJD1C, SAMD14, ARID2, ASXL1, BMPER, ZFPM1, IL23R, DIRAS1, B3GLCT, CCDC26, EMB, IL17RE, CTHRC1, MUC16, ATP5IF1, INTS4, BOC, ATP11C, UOX, TMED3, SMIM10L2A, H3P10, THRA1/BTR, PCAT2, LOC102724971, LOC102723407, LINC01152, IFNL4, PCAT1, PSC, WASHC1, C20orf181, TEC, CRPPA, DNLZ, SFTPA1, WASH6P, CXADRP1, SMIM10L2B, MIR22, ESAM, DUOXA1, UBASH3B, ATOH8, PGPEP1, TRIT1, IL17RD, KRT20, BCL11A, IL23A, PRKAG2, AHSP, TLR7, AK3, IL22, IGHV3-69-1, IGHV3OR16-7, SLCO1B3, DKK3, BBC3, SAMHD1, PADI4, MMD, MOCOS, FBXW7, MEG3, IGAN1, ATAD1, BRIP1, STK40, PRSS27, ZC3H12A, DHX40, P2RY12, SLC39A8, BACH2, RBM38, IL21, ZNF471, AICDA, TTC7A, ZC4H2, CACNA2D3, LUC7L, SOX6, LPIN2, PTPN6, TCL1B, FUT1, FOLH1, FLT3, FHIT, FGF2, FECH, FCGR3B, FCGR3A, FCGR2B, FAT1, FABP3, FABP2, F11, F9, F3, ETV6, ESR1, ERBB2, EPHX1, EPHB6, DMTN, ENO1, ADGRE1, EGR1, S1PR1, E2F2, DNMT1, DNASE1, DMD, DHFR, GAST, FUT2, DDIT3, FUT3, LAIR1, KCNQ1, ISL1, ISG20, CXCL10, INHA, IL15, IL13, IL12RB1, IL12A, IL9, CXCR1, IL4, IL1RN, IFNAR2, IFNA8, HSP90AA1, HK1, HGF, CFH, H2AX, GSTM1, GPX4, GPI, GNAS, GCLC, CBLIF, GDF2, GAS6, DGCR, GADD45A, KLK4, BMP1, BCHE, AVP, ATP5F1E, ATP2B4, ARSA, ARR3, RHOC, AR, AQP3, AQP1, FASLG, KLK3, APOH, APOE, APOB, APCS, ANXA6, SLC25A5, ALOX5, ALK, ALCAM, AIF1, AHSG, AHR, AGRP, ADH1B, ADD2, ACTB, ACO1, BCL6, VPS51, DBI, CASP3, CYP1B1, CYBB, CXADR, CUX1, CTNNB1, CTLA4, CSNK1A1, CRYGD, COL11A2, ABCC2, CCR7, CCR4, CHI3L1, CHEK1, AKR1C4, CFTR, CDR1, CDKN1B, CDK4, CDH1, CDC25A, CDAN3, CD69, CD38, CD36, MS4A1, CD5L, RUNX1T1, RUNX1, LCK, LEP, LGALS3BP, TNFRSF1B, TLR3, TLR1, TIMP1, THY1, THPO, TG, TFAP2A, TEK, TRBV20OR9-2, STXBP2, STAT6, STAT5A, STAT1, ST13, TRIM21, SRY, SRC, SPTA1, SPRR2C, SPG7, SOS1, SIGLEC1, SMN2, SMN1, SLPI, SLC20A1, SLC15A1, SLC9A3, SLC4A1, TNFRSF1A, TOP1, LRPAP1, TPMT, FHL5, ADIPOQ, LHX2, EBAG9, FCGR2C, ARTN, H2BC11, TP63, THOC5, SMARCA5, CUL4A, DYRK3, CDR3, TCL1A, HMGA2, ANC, NCOA4, CUBN, HBFQTL2, WNT3, WNT2, BEST1, VHL, VAV1, UQCRFS1, UGT1A, UGCG, UBE2D1, TRV-AAC1-4, SIPA1, SHMT2, SET, SELP, PDCD1, PDC, TNFRSF11B, OAS1, NPPB, NPC1, PNP, CNOT3, NOS3, NOS1, NFE2, NFATC1, NEO1, NEK1, RPL10A, NCAM1, NBN, MTR, CYTB, MT1E, MPG, MIF, KITLG, MET, SMCP, MBP, MAOB, LTF, LTA, PDGFB, PDGFRB, ENPP1, PTPRC, SEA, CCL19, CCL5, CCL2, SCT, ACSM3, RPS15, RPS14, RPS7, RHD, RASGRF1, RAC2, RAC1, PTPN11, PFN2, PTGS2, PTEN, PRCP, PRB1, PPOX, PPARA, POU1F1, PMCH, PI4KA, PIK3CA, PIK3C2A, PGF, PGAM1, H3P22
    • Anemia Mayo_clinic
      Overview Anemia is a problem of not having enough healthy red blood cells or hemoglobin to carry oxygen to the body's tissues. Hemoglobin is a protein found in red cells that carries oxygen from the lungs to all other organs in the body. Having anemia can cause tiredness, weakness and shortness of breath. There are many forms of anemia. Each has its own cause. Anemia can be short term or long term. It can range from mild to severe. Anemia can be a warning sign of serious illness. Treatments for anemia might involve taking supplements or having medical procedures.
  • Pellagra Wikipedia
    United States [ edit ] Corn grits, yellow unenriched, dry Nutritional value per 100 g (3.5 oz) Protein 8.8 g Tryptophan 0.062 g Vitamins Quantity %DV † Niacin (B 3 ) 8% 1.2 mg Units μg = micrograms • mg = milligrams IU = International units † Percentages are roughly approximated using US recommendations for adults. Peanut, valencia, raw Nutritional value per 100 g (3.5 oz) Protein 25 g Tryptophan 0.2445 g Vitamins Quantity %DV † Niacin (B 3 ) 86% 12.9 mg Units μg = micrograms • mg = milligrams IU = International units † Percentages are roughly approximated using US recommendations for adults. ... Retrieved 10 June 2017 . ^ a b c d e f g h i j k l Pitche P (2005). "Pellagra". ... Archived from the original on 14 April 2017. ^ Jagielska G, Tomaszewicz-Libudzic EC, Brzozowska A (2007). ... ISSN 0038-4348 . PMID 10728513 . ^ Casal, G. (1945). "The natural and medical history of the principality of the Asturias".
    • Pellagra Orphanet
      Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.
  • Epilepsy-Intellectual Disability In Females Wikipedia
    Epilepsy Research . 106 (1–2): 191–199. doi : 10.1016/j.eplepsyres.2013.04.005 . PMID 23712037 . ^ a b c d e f g h i j k l m "PCDH19 Alliance" . Retrieved August 22, 2016 . ^ a b c d e f g Specchio, N; Marini, C; Terracciano, A (2011). ... PMC 3033517 . PMID 21053371 . ^ a b c d e f g h i j k l m n o p q r s t u v w x Johnston, Michael (2016). ... ISBN 978-0199937844 . ^ a b c d e f g h i j k l m n o p Dibbens, LM; Tarpey, PS (June 2008). ... Bethesda (MD): National Center for Biotechnology Information (US). PMID 22787626 . ^ a b c d e f g h i j k l m Scheffer, Ingrid; et al. (2008). ... Retrieved 2016-08-22 . ^ a b c d e f g "News about PCDH19 Epilepsy and SCN8A Epilepsy and The Cute Syndrome Foundation" .
    PCDH19, TSPAN6
    • Epileptic Encephalopathy, Early Infantile, 9 Omim
      A number sign (#) is used with this entry because early infantile epileptic encephalopathy-9 (EIEE9), also known as epilepsy and mental retardation restricted to females (EFMR), is caused by mutation in the gene encoding protocadherin-19 (PCDH19; 300460) on chromosome Xq22. Description Epileptic encephalopathy-9 is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
    • Female Restricted Epilepsy With Intellectual Disability Orphanet
      Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
  • Glycine Encephalopathy Wikipedia
    External links [ edit ] Classification D OMIM : 605899 MeSH : D020158 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
    GCSH, GLDC
  • Kindling (Sedative–hypnotic Withdrawal) Wikipedia
    This is due to the 4- to 5-fold increase in glutamate release in nucleus accumbens during the acute withdrawal state between binges but only in dose 3 g/kg, in 2 g/kg there is no increase in glutamate release. ... PMID 19410598 . ^ Bob, P.; Jasova, D.; Bizik, G.; Raboch, J. (2011). "Epileptiform activity in alcohol dependent patients and possibilities of its indirect measurement" . ... PMID 19670554 . ^ De Witte P, Littleton J, Parot P, Koob G (2005). "Neuroprotective and abstinence-promoting effects of acamprosate: elucidating the mechanism of action". ... PMID 15963001 . ^ Mirijello A, D'Angelo C, Ferrulli A, Vassallo G, Antonelli M, Caputo F, Leggio L, Gasbarrini A, Addolorato G (March 2015).
  • Vaginal Cysts Wikipedia
    See also [ edit ] Nabothian cyst Paraovarian cyst Vaginal tumors Vaginal anomalies External links [ edit ] Vagina , Anatomical Atlases, an Anatomical Digital Library (2018) References [ edit ] ^ a b c d e f g h Lallar M, Nandal R, Sharma D, Shastri S (January 2015). ... Retrieved 2018-03-01 . ^ a b c d Jayaprakash, Sheela; M, Lakshmidevi; G, Sampath Kumar (2011-07-04). "A rare case of posterior vaginal wall cyst" . ... PMID 22126833 . S2CID 826917 . ^ a b c d e f g h i "Vaginal cysts: MedlinePlus Medical Encyclopedia" . medlineplus.gov . ... PMID 17924224 . S2CID 31444644 . ^ a b c d e f g Nucci, Marisa R.; Oliva, Esther (2009-01-01). ... PMID 29367370 . ^ a b Arumugam A, Kumar G, Si L, Vijayananthan A (October 2007).
  • Plantar Wart Wikipedia
    Subsequent surgical removal if necessary, also risks keloids and/or recurrence in the operative scar. [21] References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . ... ISBN 978-0-7216-2921-6 . ^ a b c d e f g h i j k l m n o p q r s Vlahovic, TC; Khan, MT (July 2016). ... PMID 10901717 . ^ Chouhy D, Bolatti EM, Piccirilli G, Sánchez A, Fernandez Bussy R, Giri AA (2013). ... PMID 22972052 . ^ Cockayne S, Curran M, Denby G, Hashmi F, Hewitt C, Hicks K, Jayakody S, Kang'ombe A, McIntosh C, McLarnon N, Stamuli E, Thomas K, Turner G, Torgerson D, Watt I (2011). ... PMID 21899812 . ^ Bhat, RM; Vidya, K; Kamath, G (June 2001). "Topical formic acid puncture technique for the treatment of common warts".
    IL1A
    • Plantar Warts Mayo_clinic
      Overview Plantar warts are small, rough growths on the feet. They usually show up on the balls and heels of the feet, the areas that bear the most pressure. This pressure may also cause a wart to grow inward beneath a hard, thick layer of skin (callus). Plantar warts are caused by HPV. This virus enters through tiny cuts or breaks on the bottom of the feet. Most plantar warts aren't a serious health concern and often go away without treatment, especially in children under 12. To get rid of them sooner, you can try self-care treatments or see your health care provider.
  • Hereditary Leiomyomatosis And Renal Cell Cancer Syndrome Wikipedia
    PMID 11810925 . ^ Campione, E.; Terrinoni, A.; Orlandi, A.; Codispoti, A.; Melino, G.; Bianchi, L.; Mazzotta, A.; Garaci, F. G.; Ludovici, A.; Chimenti, S. (2007). ... J.; Bourdeau, I.; Wei, M. H.; Stergiopoulos, S. G.; Chidakel, A.; Walther, M.; Abu-Asab, M.; Tsokos, M.; Keil, M.; Toro, J.; Linehan, W. ... D.; Jerby, L.; Micaroni, M.; Chaneton, B.; Adam, J.; Hedley, A.; Kalna, G.; Tomlinson, I. P. M.; Pollard, P. J.; Watson, D. G.; Deberardinis, R. J.; Shlomi, T.; Ruppin, E.; Gottlieb, E. (2011).
    FH, CCND1, HIF1A, GABPA, BCL2, BTK, NFE2L2, SDHB, SORD, MME, HSPA4, TNF, SARDH, TP53, VHL, SDS, CDKN1B, SOX11, ACTB, STAT5B, AURKA, SPIB, SPG7, STAT5A, ABL1, XRCC1, BAP1, MED12, NR1I3, TRIM13, CIB1, SMUG1, SETD2, BHD, MALAT1, AURKB, MYC, ROS1, PTPN12, AKT1, ARR3, CASR, CD40, CDKN2B, CCR5, CXADR, EIF4E, EZH2, FOXM1, FUS, HSP90AA1, IGH, IL6, IL10, LDHA, LTA, ACLY, PAX5, PRKAR1A, PTGS2, CXADRP1
    • Hereditary Leiomyomatosis And Renal Cell Cancer Gard
      Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
    • Fh Tumor Predisposition Syndrome Gene_reviews
      FH pathogenic variants reported in families with paraganglioma include the following missense and splice site variants: p.Ala117Pro, c.268-2A>G, p.Thr381Ile, p.Ala194Thr, p.Asn329Ser, p.Cys43Tyr, p.Glu53Lys [Castro-Vega et al 2014, Clark et al 2014]. Pathogenic variant c.700A>G; p.Thr234Ala has been identified in approximately ten families with paraganglioma/pheochromocytoma with and without renal cell carcinoma [Author, personal communication].
    • Hereditary Leiomyomatosis And Renal Cell Cancer Medlineplus
      Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus . This condition also increases the risk of kidney cancer. In this disorder , growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker.
    • Hereditary Leiomyomatosis And Renal Cell Cancer Orphanet
      Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Epidemiology The prevalence is unknown. Over 200 families with HLRCC have been reported. Clinical description Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common and usually present at around the age of 25 (range from 10-47 years) as firm papules or nodules that are skin colored to light brown. They are usually localized to the trunk and extremities but sometimes on the face.
    • Hereditary Leiomyomatosis And Renal Cell Cancer Omim
      A number sign (#) is used with this entry because multiple cutaneous and uterine leiomyomatosis with or without renal cell carcinoma, also referred to as hereditary leiomyatosis and renal cell cancer (HLRCC), is caused by heterozygous mutation in the gene encoding fumarate hydratase (FH; 136850) on chromosome 1q43. Homozygous mutation in the FH gene causes fumarase deficiency (FMRD; 606812). Description Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma.
  • Neurogenic Inflammation Wikipedia
    PMID 27293326 . ^ Frediani F, Villani V, Casucci G (May 2008). "Peripheral mechanism of action of antimigraine prophylactic drugs". ... S2CID 24156261 . ^ Geppetti P, Capone JG, Trevisani M, Nicoletti P, Zagli G, Tola MR (April 2005). "CGRP and migraine: neurogenic inflammation revisited" . ... The Role of Neurogenic Inflammation in Chemical Sensitivity (2017) EcopsychologyVol. 9, No. 2 Published Online:1 Jun 2017 https://doi.org/10.1089/eco.2016.0045 ^ Orriols R, Costa R, Cuberas G, Jacas C, Castell J, Sunyer J (December 2009). ... S2CID 28255407 . ^ Bascom R, Meggs WJ, Frampton M, Hudnell K, Killburn K, Kobal G, Medinsky M, Rea W (March 1997). "Neurogenic inflammation: with additional discussion of central and perceptual integration of nonneurogenic inflammation" . ... S2CID 207195138 . ^ Farinelli I, De Filippis S, Coloprisco G, Missori S, Martelletti P (October 2009).
    TNF, TACR1, TAC1, APP, POMC, CALCA, PTGS2, AMN, PNOC, NGF, MCAM, CIRBP, IL2, TNFRSF1A, TNFRSF1B, RXRA, TRPV1, TRPV4
  • Cystinuria Wikipedia
    External links [ edit ] Classification D ICD - 10 : E72.0 ICD - 9-CM : 270.0 OMIM : 220100 MeSH : D003555 DiseasesDB : 3339 External resources MedlinePlus : 000346 eMedicine : med/498 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family
    SLC7A9, SLC3A1, PREPL, CAMKMT, PPM1B, SLC7A7, SLC7A10, AGXT, KAT8, CYCS, DDX39A, TRIP4, DDX39B, HLCS, HNF1A, SLC3A2, SLC1A5, CCL21, RPL3, PBX1, PAH, SLC7A13
    • Cystinuria Gard
      Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder. This leads to the formation of cystine crystals and/or stones which may block the urinary tract. Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria , flank pain , and/or frequent urinary tract infections. Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes and is inherited in an autosomal recessive manner. The goal of treatment is to relieve symptoms and prevent the formation of stones.
    • Cystinuria Orphanet
      A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones. Epidemiology Prevalence of cystinuria has high ethnogeographic variation, ranging from 1:2,500 in the Libyan Jewish population to 1:100,000 in Sweden. The mean global value is estimated at 1:7,000. Clinical description Cystinuria develops in patients of any age but renal colic due to cystine stone appears generally in the first two decades of life, with a median age of onset of 15 years. Male patients tend to present with more aggressive disease, and occurrence of renal stones before the age of 3 is more frequent in males. Urolithiasis is bilateral in more than 75% of cases and recurrence rate is over 60%, with a higher rate in male patients.
  • Puva Lentigines Wikipedia
    PUVA lentigines are a cutaneous condition caused by PUVA therapy . [1] : 686 References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology .
  • Syngnathia Wikipedia
    Syngnathia is a congenital adhesion of the maxilla and mandible by fibrous bands. [1] References [ edit ] ^ Parkins, G. E.; Boamah, M. O. (2009). "Congenital maxillomandibular syngnathia: Case report".
    BMP4, FGF8, FOXC1, SIX1, SIX2, BARX1
    • Syngnathia Omim
      Description Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis. Clinical Features Fuhrmann et al. (1972) described a new syndrome of cleft palate combined with multiple cordlike adhesions between the free borders of the palate and lateral parts of the tongue and floor of the mouth.
    • Cleft Palate-Lateral Synechia Syndrome Orphanet
      Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. Epidemiology 11 cases have been reported in the worldwide literature. Clinical description Patients present with cleft palate at birth and on examination are found to have multiple cord-like adhesions running from the free internal borders of the palate to the lateral parts of the tongue and floor of the mouth. Babies manifest symptoms of cleft palate such as disrupted sucking and swallowing, recurrent ear infections and speech impairment. Lateral synechiae may be asymptomatic or cause feeding difficulty due to restricted opening of mouth.
  • Immunodeficiency Wikipedia
    Retrieved 2017-04-17 . ^ Grammatikos AP, Tsokos GC (February 2012). "Immunodeficiency and autoimmunity: lessons from systemic lupus erythematosus" .
    C1QB, C3, FCN3, ZAP70, LEPR, CFH, DNMT3B, CFD, CD36, CD3E, CACNA1C, C9, C8B, C8A, C5, C4A, EPG5, TNFRSF13B, CD28, CD81, ICOS
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