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 |
|---|---|---|---|---|---|
| H02798 | 筋ジストロフィー・先天性難聴および卵巣機能不全症候群 | Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is a rare early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency ... | 先天奇形 | GGPS1 [HSA:9453] [KO:K00804] | |
| H02799 | 胎児または新生児のRh溶血性疾患 | Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) is one of IgG- mediated red cell destruction. When an RhD negative mother is exposed to the RhD positive red cells, she develops allo-anti-D ... | 血液疾患 | RHD [HSA:6007] [KO:K06579] | |
| H02800 | N-アセチルアスパラギン酸欠損症 | N-acetylaspartate deficiency (NACED) is a very rare disorder characterized by the absence of brain N-acetylaspartate (NAA) with truncal ataxia, marked developmental delay, seizures, and secondary microcephaly ... | 先天性代謝異常症 | NAT8L [HSA:339983] [KO:K18309] | |
| H02801 | 骨軟骨異形成・短指症および重複奇形指趾 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is a rare autosomal recessive disease characterized by an unusual combination of highly variable skeletal defects in vertebrae ... | 先天奇形 | CHST11 [HSA:50515] [KO:K01017] | |
| H02802 | 小児発症線条体黒質変性症 | Childhood-onset striatonigral degeneration (SNDC) is an abrupt onset progressive neurological disorder with regression of developmental milestones. Characteristic MRI findings as degenerative changes in ... | 神経系疾患 | VAC14 [HSA:55697] [KO:K15305] | |
| H02803 | ヒストン修飾異常を伴う神経発達障害 | Epigenetic regulatory mechanisms, including histone modification, play critical roles in cell differentiation and organ development through spatial and temporal gene regulation. Many neurodevelopmental ... | 先天奇形 |
(SHAPNS) ASXL2 [HSA:55252] [KO:K11471] (ODLURO) KMT2E [HSA:55904] [KO:K09189] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDDFAC) SUPT16H [HSA:11198] [KO:K25639] (NEDSID) SETD1A [HSA:9739] [KO:K11422] (NECRC) ZMYM2 [HSA:7750] [KO:K24675] (NEDFASB) KAT5 [HSA:10524] [KO:K11304] (NEDSST) KDM6B [HSA:23135] [KO:K11448] (NEDEHC) KDM5A [HSA:5927] [KO:K11446] (NEDDFL) BPTF [HSA:2186] [KO:K11728] (NDNS) DOT1L [HSA:84444] [KO:K11427] |
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| H02804 | ReNU 症候群 | ReNU syndrome is a neurodevelopmental disorder characterized by intellectual disability, microcephaly, short stature, hypotonia, seizures and motor delay. It has been reported that mutations in RNU4-2 ... | 先天奇形 | RNU4-2 [HSA:26834] [KO:K14278] | |
| H02805 | Sarcoplasmic body myopathy | Sarcoplasmic body myopathy (MYOSB) is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features ... | 筋骨格疾患 | MB [HSA:4151] [KO:K21892] | |
| H02806 | インスリノーマトーシスおよび糖尿病症候群 | Insulinomatosis and diabetes mellitus syndrome (INSDM) is an autosomal dominant syndrome. Insulinomatosis is a condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting ... | 内分泌代謝疾患 | MAFA [HSA:389692] [KO:K07595] | |
| H02807 | α-フェトプロテインの異常 | Alpha-fetoprotein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal. Congenital AFP deficiency is a rare phenomenon. A few cases were studied, and mutations in the ... | 血液疾患 | AFP [HSA:174] [KO:K16144] | |
| H02808 | 進行性小頭症を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a novel severe neurodegenerative disease with microcephaly, hypotonia, and severe intellectual disability. It has been reported ... | 先天奇形 | DTYMK [HSA:1841] [KO:K00943] | |
| H02809 | 舞踏病アテトーシス様運動と小球性貧血を伴う早期発症神経変性疾患 | Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is a novel progressive neurodegenerative syndrome. It has been reported that mutations in IREB2 cause this syndrome ... | 神経系疾患 | IREB2 [HSA:3658] [KO:K22416] | |
| H02810 | 腸管運動障害症候群 | Intestinal dysmotility syndrome (IDMTS) is an extremely rare autosomal recessive fatal neonatal disease characterized by projectile vomiting, bloody diarrhea, and distended abdomen with multiple distended ... | 消化器系疾患 | ANO1 [HSA:55107] [KO:K19496] | |
| H02811 | 乳房および/または乳首の無（低）形成 | Aplasia or hypoplasia of the breasts and/or nipples (BNAH) is a rare condition. Several terms have been used to classify abnormal breast development including athelia, amazia, and amastia. BNAH is mostly ... | 先天奇形 | PTPRF [HSA:5792] [KO:K05695] | |
| H02812 | 耳顔面神経発達障害症候群 | Otofacial neurodevelopmental syndrome (OFNS) is a novel syndromic neurodevelopmental disorder characterized by global developmental delay, facial asymmetry and malformations of the outer ear. It has been ... | 先天奇形 | ZSCAN10 [HSA:84891] [KO:K09230] | |
| H02813 | Auroneurodental 症候群 | Auroneurodental syndrome (ANDS) is a novel genetic disorder characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphisms, developmental delay and mild proximal and ... | 先天奇形 | NAA80 [HSA:24142] [KO:K27921] | |
| H02814 | Oculomotor-abducens synkinesis | Oculomotor-abducens synkinesis (OCABSN) is the involuntary movement of the eyes or eyelids with a voluntary attempt at another eye or facial movement. It has been reported that mutations in ACKR3 cause ... | 神経系疾患 | ACKR3 [HSA:57007] [KO:K04304] | |
| H02815 | 爪・骨ジストロフィ、知的発達障害 およびてんかん発作症候群 | Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is a rare multiple congenital anomaly syndrome. Although the clinical features show overlap with DOORS syndrome ... | 先天奇形 | PIGF [HSA:5281] [KO:K05287] | |
| H02816 | 発育性股関節形成不全 | Developmental dysplasia of the hip (DDH) is one of the most common congenital skeletal malformations that covers a spectrum of hip disorders ranging from mild dysplasia to irreducible dislocation. DDH ... | 先天奇形 |
(DDH3) LRP1 [HSA:4035] [KO:K04550] (DDH4) TRIM33 [HSA:51592] [KO:K08883] |
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| H02817 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is a rare autosomal dominant neuromuscular disorder with complex phenotypes. A mutation in MYH14 gene, which encodes a member of the ... | 神経系疾患 | MYH14 [HSA:79784] [KO:K10352] | |
| H02818 | Jeffries-Lakhani 神経発達症候群 | Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive multisystem syndrome characterized by developmental delay, early-onset epilepsy, and hypotonia. Some patients display cardiac ... | 先天奇形 | CRELD1 [HSA:78987] [KO:K24335] | |
| H02819 | 新生児難治ミオクローヌス | Neonatal intractable myoclonus (NEIMY) is a neurologic disorder characterized by severe infantile-onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest ... | 神経系疾患 | KIF5A [HSA:3798] [KO:K10396] | |
| H02820 | Progressive encephalopathy with amyotrophy and optic atrophy | Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is an early-onset and progressive neurodegenerative encephalopathy with distal spinal muscular atrophy. Mutations in TBCE gene, encoding ... | 神経系疾患 | TBCE [HSA:6905] [KO:K21768] | |
| H02821 | Sandestig-Stefanova 症候群 | Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly ... | 先天奇形 | NUP188 [HSA:23511] [KO:K14311] | |
| H02822 | Lisch 上皮性角膜ジストロフィー | Lisch epithelial corneal dystrophy (LECD) is a rare corneal dystrophy with characteristic whorling pattern on clinical exam with distinct pathological findings that include the presence of giant vacuoles ... | 神経系疾患 | MCOLN1 [HSA:57192] [KO:K04992] | |
| H02823 | 骨硬化性骨幹端異形成症 | Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones (predominantly at the metaphyses) and vertebrae ... | 先天奇形 | LRRK1 [HSA:79705] [KO:K08843] | |
| H02824 | Abnormal hair, joint laxity, and developmental delay | Abnormal hair, joint laxity, and developmental delay (HJDD) is a genetic disorder characterized by abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. Mutations in HEPHL1 gene ... | 先天奇形 | HEPHL1 [HSA:341208] [KO:K14735] | |
| H02825 | 巨頭症・多指症候群 | Megalencephaly-polydactyly syndrome (MPAPA) is a novel syndrome with multiple congenital anomalies, including megalencephaly, ventriculomegaly, postaxial polydactyly, distinctive facial features, and neuroblastoma ... | 先天奇形 | MYCN [HSA:4613] [KO:K09109] | |
| H02826 | エピソード性発熱と免疫調節不全を伴う自己炎症 | Autoinflammation with episodic fever and immune dysregulation (AIFID) is a novel autoinflammatory disorder characterized by recurrent fever, parotitis, joint inflammation, colitis, and chronicotitis media ... | 免疫系疾患 | SHARPIN [HSA:81858] [KO:K20894] | |
| H02827 | 皮膚欠損-エナメル質異形成症候群 | Aplasia cutis-enamel dysplasia syndrome (ACED) is a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies. It has been reported that mutations in FOSL2 cause this syndrome. FOSL2 ... | 先天奇形 | FOSL2 [HSA:2355] [KO:K09030] |