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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00776 |
Congenital motor nystagmus (CMN) Idiopathic congenital nystagmus (ICN) |
... constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited ... | Nervous system disease |
(NYS1) FRMD7 [HSA:90167] [KO:K23971] (NYS6) GPR143 [HSA:4935] [KO:K08470] |
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| H00795 | Seborrhea-like dermatitis with psoriasiform element | ... characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750 ... | Immune system disease; Skin disease | ZNF750 [HSA:79755] [KO:K24377] | |
| H00799 |
CEDNIK syndrome Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
... palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation. | Congenital malformation | SNAP29 [HSA:9342] [KO:K08509] | |
| H00811 | Distal arthrogryposis | ... primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon ... | Congenital malformation |
(DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374] (DA1B) MYBPC1 [HSA:4604] [KO:K12557] (DA1C) MYL11 [HSA:29895] [KO:K12758] (DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220] (DA2B1) TNNI2 [HSA:7136] [KO:K12043] (DA2B2) TNNT3 [HSA:7140] [KO:K12046] (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128] (DA5D) ECEL1 [HSA:9427] [KO:K09610] (DA7) MYH8 [HSA:4626] [KO:K24220] (DA9) FBN2 [HSA:2201] [KO:K23342] (DA11) MET [HSA:4233] [KO:K05099] (DA12) ADAMTS15 [HSA:170689] [KO:K08629] |
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| H00826 | Blepharophimosis-ptosis-epicanthus inversus syndrome | ... ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II. | Congenital malformation | FOXL2 [HSA:668] [KO:K09405] | |
| H00828 | Familial cylindromatosis | ... autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation. | Neoplasm | CYLD [HSA:1540] [KO:K08601] | |
| H00833 | Neurodegeneration with brain iron accumulation | ... (PANK2) gene. Other forms are associated with a mutation in phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis ... | Nervous system disease |
(NBIA1) PANK2 [HSA:80025] [KO:K09680] (NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343] (NBIA3) FTL [HSA:2512] [KO:K13625] (NBIA4) C19orf12 [HSA:83636] [KO:K23168] (NBIA5) WDR45 [HSA:11152] [KO:K22991] (NBIA6) COASY [HSA:80347] [KO:K02318] (NBIA7) REPS1 [HSA:85021] [KO:K20068] (NBIA8) CRAT [HSA:1384] [KO:K00624] (NBIA9) FTH1 [HSA:2495] [KO:K00522] |
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| H00834 | Guanidinoacetate methyltransferase deficiency | Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a ... | Inherited metabolic disorder | GAMT [HSA:2593] [KO:K00542] | |
| H00849 | Cerebral creatine deficiency syndrome | ... metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability ... | Inherited metabolic disorder |
(CCDS1) SLC6A8 [HSA:6535] [KO:K05041] (CCDS2) GAMT [HSA:2593] [KO:K00542] (CCDS3) GATM [HSA:2628] [KO:K00613] |
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| H00854 |
Wolfram syndrome DIDMOAD syndrome |
... disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, ... | Endocrine and metabolic disease |
(WFS1) WFS1 [HSA:7466] [KO:K14020] (WFS2) CISD2 [HSA:493856] [KO:K23882] |
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| H00866 | Trichothiodystrophy | ... characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported | Skin disease |
(TTD1) ERCC2 [HSA:2068] [KO:K10844] (TTD2) ERCC3 [HSA:2071] [KO:K10843] (TTD3) GTF2H5 [HSA:404672] [KO:K10845] (TTD4) MPLKIP [HSA:136647] [KO:K24575] (TTD5) RNF113A [HSA:7737] [KO:K13127] (TTD6) GTF2E2 [HSA:2961] [KO:K03137] (TTD7) TARS1 [HSA:6897] [KO:K01868] (TTD8) AARS1 [HSA:16] [KO:K01872] (TTD9) MARS1 [HSA:4141] [KO:K01874] |
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| H00869 |
Leukoencephalopathy with vanishing white matter Vanishing white matter disease |
Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood ... | Nervous system disease |
(VWM1) EIF2B1 [HSA:1967] [KO:K03239] (VWM2) EIF2B2 [HSA:8892] [KO:K03754] (VWM3) EIF2B3 [HSA:8891] [KO:K03241] (VWM4) EIF2B4 [HSA:8890] [KO:K03680] (VWM5) EIF2B5 [HSA:8893] [KO:K03240] |
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| H00876 | Mismatch repair deficiency | ... with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition ... | Cancer |
(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734] (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735] (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737] (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] |
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| H00878 | Cystic leukoencephalopathy without megalencephaly | ... magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene ... | Inherited metabolic disorder | RNASET2 [HSA:8635] [KO:K01166] | |
| H00885 |
Hypomelanosis of Ito Pigmentary mosaicism |
... the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism. | Skin disease | chromosomal mosaicism | |
| H00890 | Azoospermia | ... caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest. | Reproductive system disease |
(SPGFY2) USP9Y [HSA:8287] [KO:K11840] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (OAZON) CLDN2 [HSA:9075] [KO:K06087] |
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| H00896 | Lymphangioleiomyomatosis | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of ... | Respiratory system disease |
TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
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| H00897 | Pontocerebellar hypoplasia | ... is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy ... | Congenital malformation |
(PCH1A) VRK1 [HSA:7443] [KO:K08816] (PCH1B) EXOSC3 [HSA:51010] [KO:K03681] (PCH1C) EXOSC8 [HSA:11340] [KO:K12586] (PCH1D) EXOSC9 [HSA:5393] [KO:K03678] (PCH1E) SLC25A46 [HSA:91137] [KO:K03454] (PCH1F) EXOSC1 [HSA:51013] [KO:K07573] (PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326] (PCH2B) TSEN2 [HSA:80746] [KO:K15322] (PCH2C) TSEN34 [HSA:79042] [KO:K15323] (PCH2D) SEPSECS [HSA:51091] [KO:K03341] (PCH2E) VPS53 [HSA:55275] [KO:K20299] (PCH2F) TSEN15 [HSA:116461] [KO:K15324] (PCH3) PCLO [HSA:27445] [KO:K16882] (PCH6) RARS2 [HSA:57038] [KO:K01887] (PCH7) TOE1 [HSA:114034] [KO:K13202] (PCH8) CHMP1A [HSA:5119] [KO:K12197] (PCH9) AMPD2 [HSA:271] [KO:K01490] (PCH10) CLP1 [HSA:10978] [KO:K14399] (PCH11) TBC1D23 [HSA:55773] [KO:K22555] (PCH12) COASY [HSA:80347] [KO:K02318] (PCH13) VPS51 [HSA:738] [KO:K20296] (PCH14) PPIL1 [HSA:51645] [KO:K12733] (PCH15) CDC40 [HSA:51362] [KO:K12816] (PCH16) MINPP1 [HSA:9562] [KO:K03103] (PCH17) PRDM13 [HSA:59336] [KO:K24645] |
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| H00901 | Cystinuria | ... Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention ... | Inherited metabolic disorder |
SLC3A1 [HSA:6519] [KO:K14210] SLC7A9 [HSA:11136] [KO:K13868] |
|
| H00907 |
Kleefstra syndrome Chromosome 9q34.3 deletion syndrome 9q Subtelomeric deletion syndrome |
... syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported. | Congenital malformation |
(KLEFS1) EHMT1 [HSA:79813] [KO:K11420] (KLEFS2) KMT2C [HSA:58508] [KO:K09188] |
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| H00919 | Arterial tortuosity syndrome | ... tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and ... | Congenital malformation | SLC2A10 [HSA:81031] [KO:K08147] | |
| H00920 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex ... | Inherited metabolic disorder, Mitochondrial disease | COX4I2 [HSA:84701] [KO:K02263] | |
| H00933 |
Hereditary pancreatitis Hereditary chronic pancreatitis |
... endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis. | Digestive system disease |
PRSS1 [HSA:5644] [KO:K01312] SPINK1 [HSA:6690] [KO:K23417] CFTR [HSA:1080] [KO:K05031] PRSS2 [HSA:5645] [KO:K01312] CTRC [HSA:11330] [KO:K01311] |
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| H00936 |
Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen syndrome (GOSHS) |
... retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development. | Congenital malformation | KBP [HSA:26128] [KO:K23845] | |
| H00937 | Precocious puberty | ... 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal ... | Endocrine and metabolic disease |
(CEPREPU) KISS1R [HSA:84634] [KO:K08374] (FMPP) LHCGR [HSA:3973] [KO:K04248] |
|
| H00944 | Dowling-Degos disease | ... disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites ... | Skin disease |
(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
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| H00946 | Arts syndrome | ... atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and ... | Congenital malformation | PRPS1 [HSA:5631] [KO:K00948] | |
| H00947 |
Pilomatricoma Epithelioma calcificans of Malherbe |
... The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath. | Neoplasm | CTNNB1 [HSA:1499] [KO:K02105] | |
| H00951 |
Reis-Bucklers corneal dystrophy Corneal dystrophy of Bowman type I Granular corneal dystrophy type III |
... bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene. | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00952 |
Thiel-Behnke dystrophies Corneal dystrophy of Bowman layer type II Honeycomb corneal dystrophy Anterior limiting membrane dystrophy type II Curly fibers corneal dystrophy Waardenburg-Jonker corneal dystrophy |
... with RBCD. Electron microscopy reveals curly fibers deposited in Bowman's layer and this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00955 | Granular corneal dystrophies | ... decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00963 | Congenital hereditary endothelial dystrophy | ... abnormalities, usually evident at birth or in the early years of life. Two subtypes of CHED based on differences in the mode of inheritance are known, an autosomal dominant (CHED1) and an autosomal recessive ... | Nervous system disease | SLC4A11 [HSA:83959] [KO:K13862] | |
| H00976 | Colorblindness | Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms ... | Nervous system disease |
(CBP) OPN1LW [HSA:5956] [KO:K04251] (CBD) OPN1MW [HSA:2652] [KO:K04251] (CBT) OPN1SW [HSA:611] [KO:K04252] |
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| H00977 | Trichorhinophalangeal syndrome | ... syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III (TRPS3). They are characterized ... | Congenital malformation |
(TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040] (TRPS2) EXT1 [HSA:2131] [KO:K02366] |
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| H00981 |
Ataxia with isolated vitamin E deficiency (AVED) Friedreich-like ataxia |
... rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia ... | Inherited metabolic disorder | TTPA [HSA:7274] [KO:K24455] | |
| H00994 | Familial skewed X-chromosome inactivation | ... between XX females and XY males. Therefore mammalian females are mosaics for two cell populations with different X chromosomes active. Skewed X inactivation is defined as a pattern where the cells show a preferential ... | Chromosomal abnormality | ||
| H01002 | Generalized arterial calcification of infancy | ... genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating ... | Cardiovascular disease |
(GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
|
| H01011 |
Adrenocorticotropic hormone deficiency Isolated ACDH deficiency |
... TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for ... | Endocrine and metabolic disease | TBX19 [HSA:9095] [KO:K10184] | |
| H01013 | Adult i phenotype | ... into an I structure takes place during the first 18 months after birth as a result of the expression of a specific transferase, I-branching GCNT2. Lack of this enzyme results in the adult i phenotype. | Hematologic disease | GCNT2 [HSA:2651] [KO:K00742] | |
| H01027 | Microphthalmia | ... microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as ... | Congenital malformation |
(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336] (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012] (MCOP5) MFRP [HSA:83552] [KO:K24359] (MCOP6) PRSS56 [HSA:646960] [KO:K23440] (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672] (MCOP8) ALDH1A3 [HSA:220] [KO:K07249] (MCOPCB5) SHH [HSA:6469] [KO:K11988] (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661] (MCOPCB8) STRA6 [HSA:64220] [KO:K23088] (MCOPCB9) TENM3 [HSA:55714] [KO:K24473] (MCOPCB10) RBP4 [HSA:5950] [KO:K18271] (MCOPCB11) FZD5 [HSA:7855] [KO:K02375] |
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