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Entry Name Description Category Pathway Gene
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]
H00831 Primary dystonia Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... Nervous system disease (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H00833 Neurodegeneration with brain iron accumulation ... axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene ... 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]
H00842 Epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis ... Skin disease (EV1) TMC6 [HSA:11322] [KO:K21988]
(EV2) TMC8 [HSA:147138] [KO:K21988]
(EV3) CIB1 [HSA:10519] [KO:K17259]
(EV4) RHOH [HSA:399] [KO:K07873]
(EV5) IL7 [HSA:3574] [KO:K05431]
H00843 Hartnup disorder ... transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the ... Inherited metabolic disorder SLC6A19 [HSA:340024] [KO:K05334]
H00844 Familial benign chronic pemphigus
Hailey-Hailey disease 		Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by ... Congenital malformation ATP2C1 [HSA:27032] [KO:K01537]
H00866 Trichothiodystrophy Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three ... 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]
H00876 Mismatch repair deficiency ... characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors ... 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]
H00879 Perry syndrome ... rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is ... Neurodegenerative disease DCTN1 [HSA:1639] [KO:K04648]
H00880 Dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented ... Skin disease ADAR [HSA:103] [KO:K12968]
H00882 Cocoon syndrome ... being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential ... Congenital malformation CHUK [HSA:1147] [KO:K04467]
H00883 Lipoid proteinosis
Urbach-Wiethe disease 		... characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature ... Congenital malformation ECM1 [HSA:1893] [KO:K23867]
H00884 Familial progressive hyperpigmentation ... hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented ... Skin disease KITLG [HSA:4254] [KO:K05461]
H00885 Hypomelanosis of Ito
Pigmentary mosaicism 		Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system ... Skin disease chromosomal mosaicism
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic ... sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking SLC34A1. Urinary system disease (NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683]
(NPHLOP2) NHERF1 [HSA:9368] [KO:K13365]
H00893 Cardiomyopathy, dilated, with woolly hair and keratoderma ... hair and keratoderma (DCWHK) is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. DCWHK is characterized by the presence of woolly or sparse ... Congenital malformation DSP [HSA:1832] [KO:K10381]
H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Urban-Rifkin-Davis syndrome 		Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial ... Congenital malformation LTBP4 [HSA:8425] [KO:K08023]
H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis
MACS syndrome 		... to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe ... Congenital malformation RIN2 [HSA:54453] [KO:K23687]
H00911 Dicarboxylic aminoaciduria Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino ... Inherited metabolic disorder SLC1A1 [HSA:6505] [KO:K05612]
H00914 Warsaw breakage syndrome ... syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation. Congenital malformation DDX11 [HSA:1663] [KO:K11273]
H00915 Tuberous sclerosis complex
Bourneville-Pringle disease 		... genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with ... Congenital malformation (TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
H00921 Revesz syndrome
Dyskeratosis congenita, autosomal dominant 5
Exudative retinopathy with bone marrow failure 		... retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor ... Congenital malformation TINF2 [HSA:26277] [KO:K11112]
H00928 Nephropathy with pretibial epidermolysis bullosa and deafness ... epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper ... Urinary system disease CD151 [HSA:977] [KO:K06537]
H00936 Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen syndrome (GOSHS) 		Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical ... Congenital malformation KBP [HSA:26128] [KO:K23845]
H00939 Darsun syndrome
Neutropenia, severe congenital 4, autosomal recessive
G6PC3 deficiency 		... Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone ... Immune system disease G6PC3 [HSA:92579] [KO:K01084]
H00944 Dowling-Degos disease Dowling-Degos 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 ... Skin disease (DDD1) KRT5 [HSA:3852] [KO:K07605]
(DDD2) POFUT1 [HSA:23509] [KO:K03691]
(DDD4) POGLUT1 [HSA:56983] [KO:K13667]
H00945 Factor XIII deficiency Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign ... Hematologic disease F13A1 [HSA:2162] [KO:K03917]
F13B [HSA:2165] [KO:K03906]
H00949 Focal dermal hypoplasia
Goltz-Gorlin syndrome 		... rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly ... Congenital malformation PORCN [HSA:64840] [KO:K00181]
H00953 Gelatinous drop-like corneal dystrophy
Corneal amyloidosis 		... in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation ... Nervous system disease TACSTD2 [HSA:4070] [KO:K17288]
H00957 Fleck corneal dystrophy
Francois-Neetens speckled corneal dystrophy 		... vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an enzyme with a dual specificity that has both protein and lipid kinase activity. Nervous system disease PIP5K3 [HSA:200576] [KO:K00921]
H00972 Endocrine-cerebro-osteodysplasia syndrome ... Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease. Congenital malformation ICK [HSA:22858] [KO:K08828]
H00986 Multiple pterygium syndrome ... types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and ... Congenital malformation (LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818]
(LMPS) CHRNA1 [HSA:1134] [KO:K04803]
(LMPS) CHRND [HSA:1144] [KO:K04816]
H00987 Fetal akinesia deformation sequence
Pena-Shokeir syndrome, type 1 		Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development ... Congenital malformation (FADS1) MUSK [HSA:4593] [KO:K05129]
(FADS2) RAPSN [HSA:5913] [KO:K24924]
(FADS3) DOK7 [HSA:285489] [KO:K24038]
(FADS4) NUP88 [HSA:4927] [KO:K14318]
H00988 Enterokinase deficiency
Enteropeptidase deficiency 		Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates ... Inherited metabolic disorder TMPRSS15 [HSA:5651] [KO:K01316]
H01003 Dimethylglycine dehydrogenase deficiency ... recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism ... Inherited metabolic disorder (DMGDHD) DMGDH [HSA:29958] [KO:K00315]
H01006 Hereditary angioedema ... angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal ... Cardiovascular disease (HAE1/2) SERPING1 [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01008 C syndrome
Opitz trigonocephaly syndrome 		... trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in CD96 ... Congenital malformation CD96 [HSA:10225] [KO:K06517]
H01014 Sparganosis ... intermediate/paratenic hosts. Humans become infected by ingesting the raw or undercooked meat of snakes or frogs, drinking untreated water, or using raw flesh in traditional poultices. Sparganosis has been reported sporadically ... Parasitic infectious disease
H01017 Choanal atresia and lymphedema ... shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of choanal ... Congenital malformation PTPN14 [HSA:5784] [KO:K18025]
H01028 Argininosuccinic aciduria
Argininosuccinate lyase deficiency 		... argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions ... Inherited metabolic disorder ASL [HSA:435] [KO:K01755]
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