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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| H02978 | FICUS 症候群 | FICUS syndrome (FICUS) is a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal ... | 先天奇形 | LSM1 [HSA:27257] [KO:K12620] | |
| H02979 |
胎児母体同種免疫性血小板減少症 新生児同種免疫性血小板減少症 |
Fetomaternal alloimmune thrombocytopenia (FMAIT), also known as neonatal alloimmune thrombocytopenia (NAIT), is a relatively uncommon disease, but is the leading cause of severe thrombocytopenia in the ... | 血液疾患 |
(FMAIT1) ITGB3 [HSA:3690] [KO:K06493] (FMAIT2) ITGA2B [HSA:3674] [KO:K06476] (FMAIT3) ITGA2 [HSA:3673] [KO:K06481] |
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| H02980 | 小脳性運動失調を伴う、または伴わない認知機能障害 | Cognitive impairment with or without cerebellar ataxia (CIAT) is a rare genetic neurological disorder characterized by motor and cognitive deficits of variable expressivity. This disease is caused by mutations ... | 神経系疾患 | SCN8A [HSA:6334] [KO:K04840] | |
| H02981 | Neurooculorenal syndrome | Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder caused by mutations in the ROBO1 gene, characterized by kidney and genitourinary abnormalities, including unilateral or ... | 先天奇形 | ROBO1 [HSA:6091] [KO:K06753] | |
| H02982 | 先天性心疾患と骨格奇形症候群 | Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder caused by mutations in the ABL1 gene. It is characterized by congenital heart defects, skeletal ... | 先天奇形 | ABL1 [HSA:25] [KO:K06619] | |
| H02983 | 白質ジストロフィーおよび小脳萎縮 | Leukodystrophy and cerebellar atrophy (LDCA) is a rare neurodevelopmental disorder characterized by cerebellar ataxias, developmental delay, and intellectual disability. It has been reported that mutations ... | 先天奇形 | LSM7 [HSA:51690] [KO:K12626] | |
| H02984 | Clark-Baraitser 症候群 | Clark-Baraitser syndrome (CLABARS) is a rare autosomal dominant intellectual disability syndrome characterized by intellectual disability, which may be accompanied by autism spectrum disorder (ASD), speech ... | 先天奇形 | TRIP12 [HSA:9320] [KO:K10590] | |
| H02985 | Oculovertebral 症候群 | Oculovertebral syndrome (OVS) is a novel autosomal dominant syndrome characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. It has been reported that mutations ... | 先天奇形 | NR6A1 [HSA:2649] [KO:K08561] | |
| H02986 | 小頭症、白内障および腎臓の異常を伴う神経発達障害 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) is a rare hereditary disorder caused by mutations in GEMIN4, a component of the SMN complex. The SMN complex is ... | 先天奇形 | GEMIN4 [HSA:50628] [KO:K13132] | |
| H02987 | 小脳萎縮および運動機能障害を伴う神経発達障害 | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is a novel autosomal recessive disorder characterized by developmental delay, hypotonia, and cerebellar ataxia. It has ... | 先天奇形 | GEMIN5 [HSA:25929] [KO:K13133] | |
| H02988 | 頭蓋内出血、てんかん発作、痙縮を伴う神経発達障害 | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by profound global developmental delay, severe intellectual ... | 先天奇形 | ESAM [HSA:90952] [KO:K06787] | |
| H02989 | てんかんを伴う（または伴わない）発達遅滞 | Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by milder phenotypes of developmental delay with or without seizures. DEVEP ... | 神経系疾患 | SPTAN1 [HSA:6709] [KO:K06114] | |
| H02990 | 中枢性および末梢性運動機能障害を伴う神経発達障害 | Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement ... | 先天奇形 | NFASC [HSA:23114] [KO:K06757] | |
| H02991 | Alsahan-Harris 症候群 | Alsahan-Harris syndrome (ALHAS) is a severe autosomal recessive prenatal ciliopathy associated with life-limiting congenital anomalies. It has been reported that mutations in TBC1D32 cause this syndrome ... | 先天奇形 | TBC1D32 [HSA:221322] [KO:K28444] | |
| H02992 | アカラシア・多発ニューロパチーおよび無涙症を伴う神経発達障害 | Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (NEDAPA) is a novel syndrome that is similar to triple A syndrome [DS:H00257]. The affected individuals present with intellectual ... | 先天奇形 | NDC1 [HSA:55706] [KO:K14315] | |
| H02993 | 成長遅滞、顔異形および脳の異常 | Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is a novel neurodevelopmental disorder characterized by global developmental delay, systemic dysmorphism, and epilepsy. It has been ... | 先天奇形 | U2AF2 [HSA:11338] [KO:K12837] | |
| H02994 | 成長障害・ 四肢不全麻痺および言語力低下または失語症を伴う神経発達障害 | Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech (NEDGQS) is a novel autosomal recessive syndrome caused by mutations in INPP4A. It has been reported that biallelic ... | 先天奇形 | INPP4A [HSA:3631] [KO:K01109] | |
| H02995 | Harel-Tora neurodevelopmental 症候群 | Harel-Tora neurodevelopmental syndrome (HATONS) is a novel syndrome characterized by global motor and language developmental delay, hypotonia and distinctive facial characteristics. It has been reported ... | 先天奇形 | ATXN7L3 [HSA:56970] [KO:K11363] | |
| H02996 | 神経・心・腎奇形症候群 | Neurocardiorenal malformation syndrome (NCRMS) is a severe autosomal recessive neurodevelopmental disorder associated with microcephaly, facial features, and multi-organ involvement. It has been reported ... | 先天奇形 | TM2D3 [HSA:80213] [KO:K28688] | |
| H02997 | 痙攣発作および関節弛緩を伴う神経発達障害 | Neurodevelopmental disorder with seizures and joint laxity (NEDSJL) is a novel neurodevelopmental disorder characterized by global developmental delay, hypotonia, macrocephaly and failure to thrive. It ... | 先天奇形 | RNU5B-1 [HSA:26832] [KO:K14279] | |
| H02998 | 筋緊張低下、摂食困難、顔異形および脳の異常を伴う神経発達障害 | Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (NEDHFDB) is a severe neurodevelopmental disorder featuring variable manifestations. Clinical ... | 先天奇形 | WBP4 [HSA:11193] [KO:K13220] | |
| H02999 | 先天性非球状赤血球性溶血性貧血 | Congenital non-spherocytic hemolytic anemia (CNSHA) is a group of genetic disorders affecting genes encoding red blood cell enzymes. The severity of hemolysis is variable, ranging from mild or fully compensated ... | 血液疾患 |
(CNSHA1) G6PD [HSA:2539] [KO:K00036] (CNSHA2) PKLR [HSA:5313] [KO:K12406] (CNSHA3) AK1 [HSA:203] [KO:K00939] (CNSHA4) GPI [HSA:2821] [KO:K01810] (CNSHA5) HK1 [HSA:3098] [KO:K00844] (CNSHA6) GSS [HSA:2937] [KO:K21456] (CNSHA7) GCLC [HSA:2729] [KO:K11204] (CNSHA8) NT5C3A [HSA:51251] [KO:K24242] (CNSHA9) GATA1 [HSA:2623] [KO:K09182] (CNSHA10) GSR [HSA:2936] [KO:K00383] |
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| H03000 | 感染誘発性急性発症軸索性ニューロパチー | Infection-induced acute-onset axonal neuropathy (IIAAN) is a severe, acute-onset axonal neuropathy following infection. Mutations in RCC1 were identified in affected individuals with autosomal recessive ... | 神経系疾患 | RCC1 [HSA:1104] [KO:K11493] | |
| H03001 | Dursun-Ozgul 神経発達症候群 | Dursun-Ozgul neurodevelopmental syndrome (DONDS) is a novel autosomal recessive syndrome characterized by developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, ... | 先天奇形 | ELFN1 [HSA:392617] [KO:K17567] | |
| H03002 | 免疫不全と肺機能不全を伴う乾皮症および発育不全症候群 | Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is a novel autosomal recessive disorder characterized by early lethality severe developmental defects. Consistent features ... | 先天奇形 | DBR1 [HSA:51163] [KO:K18328] | |
| H03003 | 白内障・難聴・ネフローゼ症候群および腸炎 | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (CHINE) is a novel syndrome. It has been reported that mutations in DKC1 or NOP10 cause this syndrome. DKC1 and NOP10 belong to a family ... | 先天奇形 |
(CHINE1) DKC1 [HSA:1736] [KO:K11131] (CHINE2) NOP10 [HSA:55505] [KO:K11130] |
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| H03004 | RECON 早老症候群 | RECON progeroid syndrome (RECON) is a novel genome instability disorder. The affected individuals have short stature, progeroid facial features, a hypoplastic nose, xeroderma, and skin photosensitivity ... | 先天奇形 | RECQL [HSA:5965] [KO:K10899] | |
| H03005 | X連鎖萎縮型黄斑変性 | X-linked atrophic macular degeneration is a severe peripheral retinal degeneration leading to global blindness. It has been reported that affected males had primarily macular atrophy causing progressive ... | 神経系疾患 | RPGR [HSA:6103] [KO:K19607] | |
| H03006 | Rabin-Pappas 症候群 | Rabin-Pappas syndrome (RAPAS) is a novel syndrome associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2. The phenotype of this syndrome includes microcephaly, profound intellectual ... | 先天奇形 | SETD2 [HSA:29072] [KO:K11423] | |
| H03007 | 痙縮および一過性の強直性発作を伴う神経発達障害 | Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive neurologic disorder characterized by mild neurodevelopmental delay, axial muscular ... | 先天奇形 | TNR [HSA:7143] [KO:K06252] |