KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H00843 | ハートナップ病 | Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia ... | 先天性代謝異常症 | SLC6A19 [HSA:340024] [KO:K05334] | |
| H00844 |
家族性良性慢性天疱瘡 ヘイリー・ヘイリー病 |
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 ... | 先天奇形 | ATP2C1 [HSA:27032] [KO:K01537] | |
| H00845 | 家族性アミロイド症 | The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration ... | 神経系疾患 |
(AMYLD1) TTR [HSA:7276] [KO:K20731] (AMYLD2) FGA [HSA:2243] [KO:K03903] (AMYLD3) APOA1 [HSA:335] [KO:K08757] (AMYLD5) LYZ [HSA:4069] [KO:K13915] (AMYLD6) B2M [HSA:567] [KO:K08055] |
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| H00846 | Fuhrmann 症候群 | Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia ... | 先天奇形 | WNT7A [HSA:7476] [KO:K00572] | |
| H00847 | Al-Awadi/Raas-Rothschild 症候群 | Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss ... | 先天奇形 | WNT7A [HSA:7476] [KO:K00572] | |
| H00848 | 眼球運動失行を伴う失調症 | Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT) ... | 神経系疾患 |
(AOA1) APTX [HSA:54840] [KO:K10863] (AOA2) SETX [HSA:23064] [KO:K10706] (AOA3) PIK3R5 [HSA:23533] [KO:K21290] (AOA4) PNKP [HSA:11284] [KO:K08073] |
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| H00849 | 脳クレアチン欠乏症候群 | Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency ... | 先天性代謝異常症 |
(CCDS1) SLC6A8 [HSA:6535] [KO:K05041] (CCDS2) GAMT [HSA:2593] [KO:K00542] (CCDS3) GATM [HSA:2628] [KO:K00613] |
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| H00850 |
Frontorhiny 正中顔面裂症候群 前頭鼻異形成 1型 |
Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder ... | 先天奇形 | ALX3 [HSA:257] [KO:K09323] | |
| H00851 | 近位指趾関節癒合症 | Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints. | 先天奇形 |
(SYM1A) NOG [HSA:9241] [KO:K04658] (SYM1B) GDF5 [HSA:8200] [KO:K04664] |
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| H00852 | Klippel-Feil 症候群 | Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or ... | 先天奇形 |
(KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
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| H00853 | Cenani-Lenz合指症候群 | Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density ... | 先天奇形 | LRP4 [HSA:4038] [KO:K20051] | |
| H00854 | ウォルフラム症候群 | Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 ... | 内分泌代謝疾患 |
(WFS1/WFSL) WFS1 [HSA:7466] [KO:K14020] (WFS2) CISD2 [HSA:493856] [KO:K23882] |
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| H00855 | 3節母指・多合指症候群 | Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects ... | 先天奇形 | (TPTPS) ZRS/LMBR1 [HSA:64327] [KO:K25217] | |
| H00856 | 遠位遺伝性運動ニューロパチー | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | 神経系疾患 |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMND15) BAG3 [HSA:9531] [KO:K09557] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K28034] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNR11) RTN2 [HSA:6253] [KO:K20722] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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| H00857 | Oligodontia-colorectal cancer syndrome | Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least ... | 先天奇形 | AXIN2 [HSA:8313] [KO:K04385] | |
| H00858 | Marie-Unna 型先天性貧毛症 | Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair ... | 先天奇形 |
(MUHH1) HRURF [HSA:120766137] [KO:K28373] (MUHH2) EPS8L3 [HSA:79574] [KO:K17277] |
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| H00859 | Guttmacher 症候群 | Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs ... | 先天奇形 | HOXA13 [HSA:3209] [KO:K09298] | |
| H00860 | 良性遺伝性舞踏病 | Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis ... | 神経系疾患 | NKX2-1 [HSA:7080] [KO:K09342] | |
| H00861 | 膵臓非形成 | Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter ... | 消化器系疾患 |
(PAGEN1) PDX1 [HSA:3651] [KO:K07594] (PAGEN2) PTF1A [HSA:256297] [KO:K09073] (PAGEN3) ZNF808 [HSA:388558] [KO:K27999] |
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| H00862 | トゥーレット症候群 | Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated ... | 精神及び行動の障害 |
SLITRK1 [HSA:114798] [KO:K25832] HDC [HSA:3067] [KO:K01590] |
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| H00863 | 脊椎分離-大骨端-骨幹端異形成 | Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... | 先天奇形 | NKX3-2 [HSA:579] [KO:K09995] | |
| H00864 | 抜毛癖 | Trichotillomania (TTM) is a chronic behavioral disorder characterized by the irresistible urge to pull out one's hair, resulting in noticeable hair loss. Mutations in SLITRK1 are found in patients with ... | 精神及び行動の障害 | SLITRK1 [HSA:114798] [KO:K25832] | |
| H00865 | 致死性先天性拘縮症候群 | Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... | 先天奇形 |
(LCCS1) GLE1 [HSA:2733] [KO:K18723] (LCCS2) ERBB3 [HSA:2065] [KO:K05084] (LCCS3) PIP5K1C [HSA:23396] [KO:K00889] (LCCS4) MYBPC1 [HSA:4604] [KO:K12557] (LCCS5) DNM2 [HSA:1785] [KO:K23484] (LCCS6) ZBTB42 [HSA:100128927] [KO:K23196] (LCCS7) CNTNAP1 [HSA:8506] [KO:K07379] (LCCS8) ADCY6 [HSA:112] [KO:K08046] (LCCS9) ADGRG6 [HSA:57211] [KO:K08463] (LCCS10) NEK9 [HSA:91754] [KO:K20878] (LCCS11) GLDN [HSA:342035] [KO:K16364] |
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| H00866 | 裂毛症 | 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 ... | 皮膚疾患 |
(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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| H00867 | 無巨核球性血小板減少を伴う橈尺骨癒合症 | This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The ... | 先天奇形 |
(RUSAT1) HOXA11 [HSA:3207] [KO:K21951] (RUSAT2) MECOM [HSA:2122] [KO:K04462] |
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| H00868 | Stapes ankylosis with broad thumb and toes | This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms ... | 先天奇形 | NOG [HSA:9241] [KO:K04658] | |
| H00869 |
白質消失病 VWM 型白質脳症 |
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 ... | 神経系疾患 |
(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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| H00870 | 短指‐合指症候群 | This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] ... | 先天奇形 | HOXD13 [HSA:3239] [KO:K09298] | |
| H00871 | 脳幹及び脊髄障害と乳酸上昇を伴う白質脳症 | Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive ... | 先天性代謝異常症, ミトコンドリア病 | DARS2 [HSA:55157] [KO:K01876] | |
| H00872 |
開口不全・偽屈曲指症候群 Hecht-Beals 症候群 Dutch-Kentucky 症候群 |
Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... | 先天奇形 | MYH8 [HSA:4626] [KO:K24220] |