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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| H00453 |
鰓弓耳腎症候群 BOR 症候群 |
Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome ... | 先天奇形 |
(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616] (BOR2) SIX5 [HSA:147912] [KO:K19474] (BO3) SIX1 [HSA:6495] [KO:K15614] |
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| H00454 |
Orofaciodigital 症候群 口顔指症候群 |
Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 ... | 先天奇形 |
(OFD1) OFD1 [HSA:8481] [KO:K16480] (OFD2) NEK1 [HSA:4750] [KO:K08857] (OFD4) TCTN3 [HSA:26123] [KO:K19382] (OFD5) DDX59 [HSA:83479] [KO:K19466] (OFD6) CPLANE1 [HSA:65250] [KO:K22859] (OFD9) TBC1D32 [HSA:221322] [KO:K28444] (OFD14) C2CD3 [HSA:26005] [KO:K16751] (OFD15) JBTS38 [HSA:9851] [KO:K21765] (OFD16) TMEM107 [HSA:84314] [KO:K22764] (OFD17) INTU [HSA:27152] [KO:K22862] (OFD18) IFT57 [HSA:55081] [KO:K04638] (OFD19) SCNM1 [HSA:79005] [KO:K24827] (OFD20) RAB34 [HSA:83871] [KO:K07921] (OFD21) ZRSR2 [HSA:8233] [KO:K24273] |
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| H00455 | 脊髄性筋萎縮症 | Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by ... | 神経変性疾患 |
(SMA1/2/3/4) SMN1 [HSA:6606] [KO:K13129] (SMA3) SMN2 [HSA:6607] [KO:K13129] (SMAX1) AR [HSA:367] [KO:K08557] (SMAX2) UBA1 [HSA:7317] [KO:K03178] (SMAX3) ATP7A [HSA:538] [KO:K17686] (SMAPAD) VAPB [HSA:9217] [KO:K10707] (SMALED1) DYNC1H1 [HSA:1778] [KO:K10413] (SMALED2A/2B) BICD2 [HSA:23299] [KO:K18739] (SMAJI) GARS1 [HSA:2617] [KO:K01880] (SMAPME) ASAH1 [HSA:427] [KO:K12348] |
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| H00456 | 前頭・耳口蓋指症候群 | Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked ... | 先天奇形 | FLNA [HSA:2316] [KO:K04437] | |
| H00457 | 原発性肥厚性皮膚骨膜症 | Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene ... | 筋骨格疾患 |
(PHOAD/PHOAR2) SLCO2A1 [HSA:6578] [KO:K14345] (PHOAR1) HPGD [HSA:3248] [KO:K00069] |
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| H00458 | 症候性頭蓋縫合早期癒合症 | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... | 先天奇形 |
(Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] (Muenke) FGFR3 [HSA:2261] [KO:K05094] (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] (Antley-Bixler) POR [HSA:5447] [KO:K00327] (Carpenter) RAB23 [HSA:51715] [KO:K06234] (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] |
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| H00459 | 合多指 (趾) 症 | Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly ... | 先天奇形 |
(SPD1) HOXD13 [HSA:3239] [KO:K09298] (SPD2) FBLN1 [HSA:2192] [KO:K17307] |
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| H00460 | Hand-foot-genital 症候群 | Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract. | 先天奇形 | HOXA13 [HSA:3209] [KO:K09298] | |
| H00461 |
Ischiocoxopodopatellar 症候群 股関節足膝蓋骨症候群 小膝蓋骨症候群 Scott-Taor 症候群 |
Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients | 先天奇形 | TBX4 [HSA:9496] [KO:K10178] | |
| H00462 | Stuve-Wiedemann 症候群 | Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease. | 先天奇形 |
(STWS1) LIFR [HSA:3977] [KO:K05058] (STWS2) IL6ST [HSA:3572] [KO:K05060] |
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| H00463 | Currarino 症候群 | Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome. | 先天奇形 | HLXB9 [HSA:3110] [KO:K08025] | |
| H00464 | 爪膝蓋骨症候群 | Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia. | 先天奇形 | LMX1B [HSA:4010] [KO:K09371] | |
| H00465 | 脆弱Ｘ症候群 | Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating ... | 染色体異常 | FMR1 [HSA:2332] [KO:K15516] | |
| H00466 |
Grebe 型異形成症 Hunter-Thompson 型遠位中間肢異形成症 |
Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers ... | 先天奇形 | GDF5 [HSA:8200] [KO:K04664] | |
| H00467 | Du Pan症候群 | Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported ... | 先天奇形 | GDF5 [HSA:8200] [KO:K04664] | |
| H00468 |
Demirhan型 遠位中間肢異形成症 性器発育不全を伴う遠位中間肢異形成症 |
Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B. | 先天奇形 | BMPR1B [HSA:658] [KO:K13578] | |
| H00469 | ミトコンドリア DNA 枯渇症候群 | Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... | 先天性代謝異常症, ミトコンドリア病 |
(MTDPS1) TYMP [HSA:1890] [KO:K00758] (MTDPS2) TK2 [HSA:7084] [KO:K00857] (MTDPS3) DGUOK [HSA:1716] [KO:K00904] (MTDPS4A/4B) POLG [HSA:5428] [KO:K02332] (MTDPS5) SUCLA2 [HSA:8803] [KO:K01900] (MTDPS6) MPV17 [HSA:4358] [KO:K13348] (MTDPS7) TWNK [HSA:56652] [KO:K17680] (MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808] (MTDPS9) SUCLG1 [HSA:8802] [KO:K01899] (MTDPS10) AGK [HSA:55750] [KO:K09881] (MTDPS11) MGME1 [HSA:92667] [KO:K19465] (MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863] (MTDPS13) FBXL4 [HSA:26235] [KO:K10270] (MTDPS14) OPA1 [HSA:4976] [KO:K17079] (MTDPS15) TFAM [HSA:7019] [KO:K11830] (MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333] (MTDPS17) MRM2 [HSA:29960] [KO:K02427] (MTDPS18) SLC25A21 [HSA:89874] [KO:K15110] (MTDPS19) SLC25A10 [HSA:1468] [KO:K13577] (MTDPS20) LIG3 [HSA:3980] [KO:K10776] (MTDPS21) GUK1 [HSA:2987] [KO:K00942] |
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| H00470 | Maroteaux 型遠位中間肢異形成症 | Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous ... | 先天奇形 | NPR2 [HSA:4882] [KO:K12324] | |
| H00471 | 裂手/裂足症 | Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in ... | 先天奇形 |
(SHFM1/1D) DLX5 [HSA:1749] [KO:K18489] (SHFM4) TP63 [HSA:8626] [KO:K10149] (SHFM6) WNT10B [HSA:7480] [KO:K01357] (SFMMP) MAP3K20 [HSA:51776] [KO:K04424] |
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| H00472 |
Torg 症候群 Torg-Winchester 症候群 多中心性骨溶解・結節・関節症 |
Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are ... | 筋骨格疾患 | MMP2 [HSA:4313] [KO:K01398] | |
| H00473 | ミトコンドリア複合体 I 欠損症 | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | 先天性代謝異常症, ミトコンドリア病 |
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937] (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941] (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940] (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942] (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934] (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935] (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943] (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936] (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939] (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160] (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159] (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945] (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946] (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956] (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161] (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162] (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163] (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008] (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166] (MC1DN20) ACAD9 [HSA:28976] [KO:K15980] (MC1DN21) NUBPL [HSA:80224] [KO:K03593] (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954] (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352] (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965] (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959] (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953] (MC1DN27) MTFMT [HSA:123263] [KO:K00604] (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353] (MC1DN29) TMEM126B [HSA:55863] [KO:K18165] (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351] (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505] (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964] (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950] (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726] (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966] (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968] (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND3 [HSA:4537] [KO:K03880] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] |
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| H00474 | 蝸牛様骨盤異形成症 | Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with ... | 先天奇形 | SLC35D1 [HSA:23169] [KO:K15281] | |
| H00475 | 拡張型頭頂孔/頭蓋裂 | Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 ... | 先天奇形 |
(parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:4488] [KO:K09341] (parietal foramina 2) ALX4 [HSA:60529] [KO:K09451] |
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| H00476 | 多発性骨端異形成症 | Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2 ... | 先天奇形 |
(EDM1) COMP [HSA:1311] [KO:K04659] (EDM2) COL9A2 [HSA:1298] [KO:K08131] (EDM3) COL9A3 [HSA:1299] [KO:K08131] (EDM4) DTDST [HSA:1836] [KO:K14701] (EDM5) MATN3 [HSA:4148] [KO:K19467] (EDM6) COL9A1 [HSA:1297] [KO:K08131] (EDM7) CANT1 [HSA:124583] [KO:K12304] (EDMMD) COL2A1 [HSA:1280] [KO:K19719] |
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| H00477 | 偽軟骨異形成症 | Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP. | 先天奇形 | COMP [HSA:1311] [KO:K04659] | |
| H00478 | プラダー・ウィリー症候群 | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally ... | 染色体異常 |
NDN [HSA:4692] [KO:K19482] SNRPN [HSA:6638] [KO:K11100] NPAP1 [HSA:23742] [KO:K26564] |
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| H00479 | 骨幹端異形成症 | Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in ... | 先天奇形 |
(MCDS) COL10A1 [HSA:1300] [KO:K19479] (CHH) RMRP [HSA:6023] [KO:K14576] (MCDJ) PTH1R [HSA:5745] [KO:K04585] (PYL) SFRP4 [HSA:6424] [KO:K02185] (MDMHB) RUNX2 [HSA:860] [KO:K09278] (MANDP1/MDST) MMP13 [HSA:4322] [KO:K07994] (MANDP2) MMP9 [HSA:4318] [KO:K01403] |
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| H00480 |
X 連鎖知的発達障害 X 連鎖精神遅滞 |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | 精神及び行動の障害 |
(XLID1) IQSEC2 [HSA:23096] [KO:K12495] (XLID3) HCFC1 [HSA:3054] [KO:K14966] (XLID9) FTSJ1 [HSA:24140] [KO:K14864] (XLID12) THOC2 [HSA:57187] [KO:K12879] (XLID19) RPS6KA3 [HSA:6197] [KO:K04373] (XLID21) IL1RAPL1 [HSA:11141] [KO:K05170] (XLID29) ARX [HSA:170302] [KO:K09452] (XLID30) PAK3 [HSA:5063] [KO:K05733] (XLID41) GDI1 [HSA:2664] [KO:K17255] (XLID50) SYN1 [HSA:6853] [KO:K19941] (XLID58) TSPAN7 [HSA:7102] [KO:K06571] (XLID63) ACSL4 [HSA:2182] [KO:K01897] (XLID72) RAB39B [HSA:116442] [KO:K07925] (XLID90) DLG3 [HSA:1741] [KO:K21098] (XLID93) BRWD3 [HSA:254065] [KO:K11798] (XLID96) SYP [HSA:6855] [KO:K28145] (XLID97) ZNF711 [HSA:7552] [KO:K24376] (XLID98) NEXMIF [HSA:340533] [KO:K25862] (XLID99) USP9X [HSA:8239] [KO:K11840] (XLID100) KIF4A [HSA:24137] [KO:K10395] (XLID101) MID2 [HSA:11043] [KO:K10647] (XLID103) KLHL15 [HSA:80311] [KO:K10452] (XLID104) FRMPD4 [HSA:9758] [KO:K23956] (XLID105) USP27X [HSA:389856] [KO:K11366] (XLID106) OGT [HSA:8473] [KO:K09667] (XLID107) STEEP1 [HSA:63932] [KO:K24996] (XLID108) SLC9A7 [HSA:84679] [KO:K12041] (XLID109) AFF2 [HSA:2334] [KO:K15194] (XLID110) FGF13 [HSA:2258] [KO:K22413] (XLID111) SLITRK2 [HSA:84631] [KO:K25833] (XLID112) ZMYM3 [HSA:9203] [KO:K24675] (XLID113) CSTF2 [HSA:1478] [KO:K14407] (XLID114) SRPK3 [HSA:26576] [KO:K08832] |
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| H00481 | 錐体杆体ジストロフィおよび錐体ジストロフィー | Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP) ... | 神経系疾患 |
(CORD2) CRX [HSA:1406] [KO:K09337] (CORD3) ABCA4 [HSA:24] [KO:K05644] (CORD5) PITPNM3 [HSA:83394] [KO:K24069] (CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321] (CORD9) ADAM9 [HSA:8754] [KO:K06834] (CORD10) SEMA4A [HSA:64218] [KO:K06521] (CORD11) RAX2 [HSA:84839] [KO:K09333] (CORD12) PROM1 [HSA:8842] [KO:K06532] (CORD13) RPGRIP1 [HSA:57096] [KO:K16512] (CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328] (CORD15) CDHR1 [HSA:92211] [KO:K16501] (CORD16) C8orf37 [HSA:157657] [KO:K25226] (CORD18) RAB28 [HSA:9364] [KO:K07915] (CORD19) TTLL5 [HSA:23093] [KO:K16602] (CORD20) POC1B [HSA:282809] [KO:K16482] (CORD21) DRAM2 [HSA:128338] [KO:K21956] (CORD22) TLCD3B [HSA:83723] [KO:K26600] (CORD24) UNC119 [HSA:9094] [KO:K23539] (CORDX1/COD1) RPGR [HSA:6103] [KO:K19607] (CORDX3) CACNA1F [HSA:778] [KO:K04853] (COD4) PDE6C [HSA:5146] [KO:K13757] (RCD3A) PDE6H [HSA:5149] [KO:K13760] (RCD3B) KCNV2 [HSA:169522] [KO:K04935] (RCD4) CACNA2D4 [HSA:93589] [KO:K04861] |
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| H00482 | 短指 (趾) 症 | Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx ... | 先天奇形 |
(BDA1) IHH [HSA:3549] [KO:K11989] (BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664] (BDA1D, BDA2) BMPR1B [HSA:658] [KO:K13578] (BDA2) BMP2 [HSA:650] [KO:K21283] (BDB1) ROR2 [HSA:4920] [KO:K05123] (BDB2) NOG [HSA:9241] [KO:K04658] (BDD, BDE1) HOXD13 [HSA:3239] [KO:K09298] (BDE2) PTHLH [HSA:5744] [KO:K22608] (HTNB) PDE3A [HSA:5139] [KO:K19021] |