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 |
|---|---|---|---|---|---|
| H00543 | 腎・肝・膵異形成 | Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... | 先天奇形 |
(RHPD1) NPHP3 [HSA:27031] [KO:K19360] (RHPD2) NEK8 [HSA:284086] [KO:K20877] |
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| H00544 | 中隔視神経形成異常症 | Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia [DS:H02203], dysgenesis of the septum pellucidum, and pituitary hypofunction. | 先天奇形 |
HESX1 [HSA:8820] [KO:K09354] SOX2 [HSA:6657] [KO:K16796] SOX3 [HSA:6658] [KO:K09267] OTX2 [HSA:5015] [KO:K18490] |
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| H00545 | 多嚢胞肝 | Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients ... | 先天奇形 |
(PCLD1) PRKCSH [HSA:5589] [KO:K08288] (PCLD2) SEC63 [HSA:11231] [KO:K09540] (PCLD3) ALG8 [HSA:79053] [KO:K03849] (PCLD4) LRP5 [HSA:4041] [KO:K03068] |
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| H00546 | 心房中隔欠損 | Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that ... | 先天奇形 |
(ASD2) GATA4 [HSA:2626] [KO:K09183] (ASD3) MYH6 [HSA:4624] [KO:K17751] (ASD4) TBX20 [HSA:57057] [KO:K10185] (ASD5) ACTC1 [HSA:70] [KO:K12314] (ASD6) TLL1 [HSA:7092] [KO:K09608] (ASD7) NKX2-5 [HSA:1482] [KO:K09345] (ASD8) CITED2 [HSA:10370] [KO:K21361] (ASD9) GATA6 [HSA:2627] [KO:K17897] |
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| H00547 |
房室中隔欠損 房室管型欠損 |
Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, ... | 先天奇形 |
(AVSD2) CRELD1 [HSA:78987] [KO:K24335] (AVSD3) GJA1 [HSA:2697] [KO:K07372] (AVSD4) GATA4 [HSA:2626] [KO:K09183] (AVSD5) GATA6 [HSA:2627] [KO:K17897] |
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| H00548 |
ブルンナー症候群 MAOA欠損症 |
Brunner syndrome (BRNRS) is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such ... | 先天性代謝異常症 | MAOA [HSA:4128] [KO:K00274] | |
| H00549 | ファロー四徴症 | The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from ... | 先天奇形 |
NKX2-5 [HSA:1482] [KO:K09345] JAG1 [HSA:182] [KO:K06052] ZFPM2 [HSA:23414] [KO:K17442] GATA4 [HSA:2626] [KO:K09183] GATA6 [HSA:2627] [KO:K17897] TBX1 [HSA:6899] [KO:K10175] GDF1 [HSA:2657] [KO:K05495] |
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| H00550 | 完全大血管転位症 | Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle ... | 先天奇形 |
CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
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| H00551 | アラジール症候群 | Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... | 先天奇形 |
(ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
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| H00552 | Xp21欠失症候群 | Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol ... | 染色体異常 | ||
| H00553 | 大動脈弁上狭窄 | Congenital supravalvular aortic stenosis (SVAS) is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The ... | 先天奇形 | ELN [HSA:2006] [KO:K14211] | |
| H00554 |
大動脈弁疾患 二尖大動脈弁 |
Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital ... | 先天奇形 |
(AOVD1) NOTCH1 [HSA:4851] [KO:K02599] (AOVD2) SMAD6 [HSA:4091] [KO:K04677] (AOVD3) ROBO4 [HSA:54538] [KO:K06784] |
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| H00555 | Char 症候群 | Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of ... | 先天奇形 | TFAP2B [HSA:7021] [KO:K09176] | |
| H00556 | チャージ症候群 | CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia ... | 先天奇形 |
CHD7 [HSA:55636] [KO:K14437] SEMA3E [HSA:9723] [KO:K06840] |
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| H00557 | 皮膚弛緩症 | Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the ... | 先天奇形 |
(ADCL1) ELN [HSA:2006] [KO:K14211] (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340] (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657] (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866] (ARCL1C) LTBP4 [HSA:8425] [KO:K08023] (ARCL1D) EFEMP1 [HSA:2202] [KO:K18262] (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154] (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286] (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150] (ARCL2D) ATP6V1A [HSA:523] [KO:K02145] (ARCL2E) LTBP1 [HSA:4052] [KO:K19559] |
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| H00558 | 老人様皮膚萎縮骨形成異常症 | Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been ... | 先天奇形 |
SCYL1BP1 [HSA:92344] [KO:K19748] PYCR1 [HSA:5831] [KO:K00286] |
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| H00559 | フォンヒッペル・リンダウ症候群 | von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas ... | 先天奇形 |
VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
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| H00560 | 弾性線維性仮性黄色腫 | Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels ... | 先天奇形 |
(PXE) ABCC6 [HSA:368] [KO:K05669] (PXE) XYLT1 [HSA:64131] [KO:K00771] (PXE) XYLT2 [HSA:64132] [KO:K00771] (PXE-like) GGCX [HSA:2677] [KO:K10106] |
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| H00561 |
短指症-精神遅滞症候群 2q37 欠失症候群 |
Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism ... | 染色体異常 | HDAC4 [HSA:9759] [KO:K11406] | |
| H00562 | ジストロフィン異常症 | Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a ... | 神経系疾患; 筋骨格疾患 | DMD [HSA:1756] [KO:K10366] | |
| H00563 | エメリー・ドレフュス型筋ジストロフィー | Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal ... | 神経系疾患; 筋骨格疾患 |
(EDMD1) EMD [HSA:2010] [KO:K12569] (EDMD2/EDMD3) LMNA [HSA:4000] [KO:K12641] (EDMD4) SYNE1 [HSA:23345] [KO:K19326] (EDMD5) SYNE2 [HSA:23224] [KO:K19346] (EDMD6) FHL1 [HSA:2273] [KO:K14365] (EDMD7) TMEM43 [HSA:79188] [KO:K27488] |
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| H00564 | 原発性繊毛ジスキネジア | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | 呼吸器系疾患 |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] (CILD54) CFAP54 [HSA:144535] [KO:K25553] |
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| H00565 | サルコグリカン異常症 | Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated ... | 神経系疾患; 筋骨格疾患 |
(LGMD2C) SGCG [HSA:6445] [KO:K12564] (LGMD2D) SGCA [HSA:6442] [KO:K12565] (LGMD2E) SGCB [HSA:6443] [KO:K12566] (LGMD2F) SGCD [HSA:6444] [KO:K12563] |
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| H00566 | 遠位型前脛骨筋ミオパチー | Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness. | 神経系疾患; 筋骨格疾患 | DYSF [HSA:8291] [KO:K18261] | |
| H00567 | 肢帯型筋ジストロフィー 1C | Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been ... | 神経系疾患; 筋骨格疾患 | CAV3 [HSA:859] [KO:K12959] | |
| H00568 | 筋緊張性ジストロフィー | Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 ... | 神経系疾患; 筋骨格疾患 |
(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
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| H00569 | アースコグ症候群 | Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in ... | 先天奇形 | FGD1 [HSA:2245] [KO:K05720] | |
| H00570 | 歌舞伎症候群 | Kabuki syndrome, or Kabuki make-up syndrome (KABUK), is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures ... | 先天奇形 |
(KABUK1) KMT2D [HSA:8085] [KO:K09187] (KABUK2) KDM6A [HSA:7403] [KO:K11447] |
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| H00571 | ヨハンソン‐ブリザード症候群 | Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen ... | 先天奇形 | UBR1 [HSA:197131] [KO:K10625] | |
| H00572 | Roberts-SC アザラシ肢症候群 | Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia ... | 先天奇形 | ESCO2 [HSA:157570] [KO:K11268] |