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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| H02197 | ミトコンドリアピルビン酸輸送体欠損症 | Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ... | 先天性代謝異常症 | BRP44L [HSA:51660] [KO:K22138] | |
| H02198 |
膵欠損症および先天性心疾患 膵形成不全・糖尿病・心疾患 Yorifuji-Okuno 症候群 |
Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have ... | 先天奇形 | GATA6 [HSA:2627] [KO:K17897] | |
| H02199 | 先天性心疾患（複合型） | Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... | 先天奇形 |
(CHTD1) ZIC3 [HSA:7547] [KO:K18487] (CHTD2) TAB2 [HSA:23118] [KO:K04404] (CHTD4) NR2F2 [HSA:7026] [KO:K08548] (CHTD5) GATA5 [HSA:140628] [KO:K17896] (CHTD6) GDF1 [HSA:2657] [KO:K05495] (CHTD7) FLT4 [HSA:2324] [KO:K05097] (CHTD8) SMAD2 [HSA:4087] [KO:K04500] (CHTD9) PLXND1 [HSA:23129] [KO:K06822] |
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| H02200 |
卵巣機能障害を伴う進行性白質脳症 卵巣白質ジストロフィー |
Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with ... | 神経系疾患 | AARS2 [HSA:57505] [KO:K01872] | |
| H02201 | 乳酸アシドーシスを伴うミトコンドリアミオパチー | Mitochondrial myopathy with lactic acidosis is an autosomal recessive metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function ... | 先天性代謝異常症 | PNPLA8 [HSA:50640] [KO:K16815] | |
| H02202 | 斜顔面裂 | Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein ... | 先天奇形 | SPECC1L [HSA:23384] [KO:K23028] | |
| H02203 | 視神経形成不全 | Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ... | 先天奇形 | PAX6 [HSA:5080] [KO:K08031] | |
| H02204 |
遺伝性高フェリチン血症・白内障症候群 Bonneau-Beaumont 症候群 |
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin ... | 神経系疾患 | FTL [HSA:2512] [KO:K13625] | |
| H02205 | ムコ多糖症プラス症候群 | Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels ... | 先天性代謝異常症 | VPS33A [HSA:65082] [KO:K20182] | |
| H02206 |
無セルロプラスミン血症 セルロプラスミン欠損症 |
Aceruloplasminemia (ACP) is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders ... | 神経系疾患 | CP [HSA:1356] [KO:K13624] | |
| H02207 |
Kufor-Rakeb 症候群 パーキンソン病 9 型 |
Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia ... | 神経系疾患 | ATP13A2 [HSA:23400] [KO:K13526] | |
| H02208 |
パントテン酸キナーゼ関連神経変性症 ハラーフォルデン・シュパッツ病 脳の鉄沈着を伴う神経変性症 1型 |
Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical ... | 神経系疾患 | PANK2 [HSA:80025] [KO:K09680] | |
| H02209 | HARP 症候群 | HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration ... | 神経系疾患 | PANK2 [HSA:80025] [KO:K09680] | |
| H02210 | 遠位肢前頭鼻異形成症 | Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie ... | 先天奇形 | ZSWIM6 [HSA:57688] [KO:K25704] | |
| H02211 | 先端骨形成不全症 | Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A ... | 先天奇形 |
(ACRDYS1) PRKAR1A [HSA:5573] [KO:K04739] (ACRDYS2) PDE4D [HSA:5144] [KO:K13293] |
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| H02212 | 家族性小児ミオクローヌスてんかん | Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable ... | 神経系疾患 | TBC1D24 [HSA:57465] [KO:K21841] | |
| H02213 | 良性成人型家族性ミオクローヌスてんかん | Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent ... | 神経系疾患 |
(FAME1) SAMD12 [HSA:401474] [KO:K28209] (FAME2) STARD7 [HSA:56910] [KO:K24141] (FAME3) MARCH6 [HSA:10299] [KO:K10661] (FAME4) YEATS2 [HSA:55689] [KO:K24539] (FAME5) CNTN2 [HSA:6900] [KO:K06760] (FAME6) TNRC6A [HSA:27327] [KO:K18412] (FAME7) RAPGEF2 [HSA:9693] [KO:K08018] |
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| H02214 | 多様な焦点を示す家族性焦点性てんかん | Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal ... | 神経系疾患 |
(FFEVF1) DEPDC5 [HSA:9681] [KO:K20404] (FFEVF2) NPRL2 [HSA:10641] [KO:K20405] (FFEVF3) NPRL3 [HSA:8131] [KO:K20406] (FFEVF4) SCN3A [HSA:6328] [KO:K04836] |
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| H02215 | 小児欠神てんかん | Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences ... | 神経系疾患 |
(ECA2) GABRG2 [HSA:2566] [KO:K05186] (ECA4) GABRA1 [HSA:2554] [KO:K05175] (ECA5) GABRB3 [HSA:2562] [KO:K05181] (ECA6) CACNA1H [HSA:8912] [KO:K04855] |
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| H02216 | 若年性欠神てんかん | Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of ... | 神経系疾患 |
(EJA1) EFHC1 [HSA:114327] [KO:K23029] (EJA2) CLCN2 [HSA:1181] [KO:K05011] |
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| H02217 | 若年性ミオクローヌスてんかん | Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks ... | 神経系疾患 |
(EJM1) EFHC1 [HSA:114327] [KO:K23029] (EJM5) GABRA1 [HSA:2554] [KO:K05175] (EJM6) CACNB4 [HSA:785] [KO:K04865] (EJM7) GABRD [HSA:2563] [KO:K05184] (EJM8) CLCN2 [HSA:1181] [KO:K05011] (EJM10) ICK [HSA:22858] [KO:K08828] |
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| H02218 |
DOORS 症候群 Eronen 症候群 指腎脳症候群 |
DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic ... | 先天奇形 | TBC1D24 [HSA:57465] [KO:K21841] | |
| H02219 |
DDOD 症候群 優性遺伝性難聴・爪ジストロフィー |
Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome ... | 先天奇形 | ATP6B1B2 [HSA:526] [KO:K02147] | |
| H02220 |
MEDNIK 症候群 変異性紅斑角皮症 3型 |
MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene ... | 先天奇形 | AP1S1 [HSA:1174] [KO:K12394] | |
| H02221 | メチルマロン酸尿症およびホモシスチン尿症 | Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary ... | 先天性代謝異常症 |
(MAHCF) LMBRD1 [HSA:55788] [KO:K14617] (MAHCC) MMACHC [HSA:25974] [KO:K14618] (MAHCC) PRDX1 [HSA:5052] [KO:K13279] (MAHCD) MMADHC [HSA:27249] [KO:K26006] (MAHCJ) ABCD4 [HSA:5826] [KO:K05678] (MAHCL) THAP11 [HSA:57215] [KO:K23211] |
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| H02222 | メチルマロン酸血症および高ホモシステイン血症 cblX 型 | Methylmalonic acidemia and hyperhomocysteinemia (MAHC) cblX type is X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia. The clinical symptoms are similar to MAHC cblC type, that ... | 先天性代謝異常症 | HCFC1 [HSA:3054] [KO:K14966] | |
| H02223 |
骨頭蓋骨狭窄症 Gracile bone dysplasia |
Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and ... | 先天奇形 | FAM111A [HSA:63901] [KO:K24274] | |
| H02224 | Grange 症候群 | Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome | 先天奇形 | YY1AP1 [HSA:55249] [KO:K23803] | |
| H02225 | 家族性肝硬変 | Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. The well-documented ... | 消化器系疾患 |
KRT8 [HSA:3856] [KO:K07605] KRT18 [HSA:3875] [KO:K07604] |
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| H02226 |
心脊椎手根骨顔症候群 Forney 症候群 |
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis ... | 先天奇形 | MAP3K7 [HSA:6885] [KO:K04427] |