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 |
|---|---|---|---|---|---|
| H02738 | 小脳萎縮を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia ... | 神経系疾患 | (CONDCA) AGTPBP1 [HSA:23287] [KO:K23435] | |
| H02739 | 運動失調・振戦・視神経萎縮および認知機能低下を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like ... | 神経系疾患 | (CONATOC) SLC44A1 [HSA:23446] [KO:K06515] | |
| H02740 | 筋緊張低下・呼吸機能不全および脳画像の異常を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6 ... | 神経系疾患 | (CONRIBA) CLCN6 [HSA:1185] [KO:K05015] | |
| H02741 | 小脳萎縮および認知機能低下を伴う小児発症神経変性疾患 | Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is a novel early-onset disorder caused by the gain-of-function mutation in CAPRIN1. CAPRIN1 is a ubiquitously expressed ... | 神経系疾患 | (CONDCAC) CAPRIN1 [HSA:4076] [KO:K18743] | |
| H02742 | 顔異形を伴う先天性神経筋疾患 | Congenital neuromuscular disorder with dysmorphic facies (NMDF) is a novel autosomal recessive disorder caused by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological ... | 先天奇形 | FILIP1 [HSA:27145] [KO:K27698] | |
| H02743 | KINSSHIP 症候群 | KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported ... | 先天奇形 | AFF3 [HSA:3899] [KO:K15195] | |
| H02744 | 腎無形成を伴う（伴わない）Neurofacioskeletal 症候群 | Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other ... | 先天奇形 | HS2ST1 [HSA:9653] [KO:K02513] | |
| H02745 | Neuromuscular oculoauditory 症候群 | Neuromuscular oculoauditory syndrome (NMOAS) is a rare disease caused by mutations in DHX16. Patients share features of central nervous system anomalies and seizures. NMOAS can have varied presentations ... | 先天奇形 | DHX16 [HSA:8449] [KO:K12813] | |
| H02746 | Alfadhel 症候群 | Alfadhel syndrome is a new syndrome characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine ... | 先天奇形 | RAP1GDS1 [HSA:5910] [KO:K27817] | |
| H02747 | Oculogastrointestinal neurodevelopmental 症候群 | Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global ... | 先天奇形 | CAPN15 [HSA:6650] [KO:K08582] | |
| H02748 | Hepatorenocardiac degenerative fibrosis | Hepatorenocardiac degenerative fibrosis (HRCDF) is a rare autosomal recessive disorder characterized by multiorgan fibrosis. Patients present progressive fibrotic liver disease and variable kidney and ... | 先天奇形 | TULP3 [HSA:7289] [KO:K19600] | |
| H02749 | 血管型出血性疾患 | Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered ... | 血液疾患 | APOLD1 [HSA:81575] [KO:K28078] | |
| H02750 | グルタチオン尿症 | Glutathionuria is a rare disease caused by mutations in GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures ... | 先天性代謝異常症 | GGT1 [HSA:2678] [KO:K18592] | |
| H02751 | 起立性低血圧 | Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ... | 循環器系疾患 |
(ORTHYP1) DBH [HSA:1621] [KO:K00503] (ORTHYP2) CYB561 [HSA:1534] [KO:K08360] |
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| H02752 | Tan-Almurshedi 症候群 | Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. It has been reported ... | 先天奇形 | DRG1 [HSA:4733] [KO:K06944] | |
| H02753 | 脊椎奇形および様々な内分泌とT細胞機能障害 | Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac ... | 先天奇形 | TBX2 [HSA:6909] [KO:K10176] | |
| H02754 | 尿中α-ケトグルタル酸上昇を伴う急性可逆性白質脳症 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary ... | 先天性代謝異常症 | SLC13A3 [HSA:64849] [KO:K14445] | |
| H02755 | Lui-Jee-Baron 症候群 | Lui-Jee-Baron syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been ... | 先天奇形 | SPIN4 [HSA:139886] [KO:K27702] | |
| H02756 | 先天性若年発症型再発性呼吸器乳頭腫症 | Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection ... | 新生物 | NLRP1 [HSA:22861] [KO:K12798] | |
| H02757 | 下痢を伴う（伴わない）再発性呼吸器感染および発育不全 | Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is a rare genetic disorder characterized by recurrent lower respiratory infections, chronic diarrhoea, and failure ... | 呼吸器系疾患 | AGR2 [HSA:10551] [KO:K20356] | |
| H02758 | ACCES 症候群 | ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 ... | 先天奇形 | UBA2 [HSA:10054] [KO:K10685] | |
| H02759 | Suleiman-El-Hattab 症候群 | Suleiman-El-Hattab syndrome is an autosomal recessive syndrome characterized by developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal ... | 先天奇形 | TASP1 [HSA:55617] [KO:K08657] | |
| H02760 | BDV 症候群 | BDV syndrome is a novel syndrome characterized by morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause ... | 先天性代謝異常症 | CPE [HSA:1363] [KO:K01294] | |
| H02761 | 高ホモシステイン血症を伴う(伴わない)複合免疫不全症および巨赤芽球性貧血 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic ... | 先天性代謝異常症 | (CIMAH) MTHFD1 [HSA:4522] [KO:K00288] | |
| H02762 | 骨・耳・肝・腸症候群 | Osteo-oto-hepato-enteric syndrome (OOHE) is a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility. It has been reported that mutations in UNC45A cause this syndrome. UNC45A ... | 先天奇形 | UNC45A [HSA:55898] [KO:K21991] | |
| H02763 | Neurocardiofaciodigital 症候群 | Neurocardiofaciodigital syndrome (NCFD) is a new multiple congenital anomalies syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial ... | 先天奇形 | MAPKAPK5 [HSA:8550] [KO:K04442] | |
| H02764 | 低身長・難聴・網膜色素変性および特異的顔貌 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa ... | 先天奇形 | EXOSC2 [HSA:23404] [KO:K03679] | |
| H02765 | Prieto 症候群 | Prieto syndrome (PRS) is a rare X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride ... | 先天奇形 | WNK3 [HSA:65267] [KO:K08867] | |
| H02766 | 腕橈骨癒合症（他の骨格および頭蓋顔面の異常を伴う) | Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations ... | 先天奇形 | CYP26B1 [HSA:56603] [KO:K12664] | |
| H02767 | 先天性脱グリコシル化異常症 | Congenital disorder of deglycosylation (CDDG) is caused by loss of function of enzymes involved in free oligosaccharide (fOS) metabolism. FOSs are soluble oligosaccharide species generated during N-glycosylation ... | 先天性代謝異常症 |
(CDDG1) NGLY1 [HSA:55768] [KO:K01456] (CDDG2) MAN2C1 [HSA:4123] [KO:K01191] |