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 |
|---|---|---|---|---|---|
| H02888 | てんかん発作および歩行異常を伴うまたは伴わない神経発達障害 | Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by intellectual disability, problems of social behavior, and other variable ... | 先天奇形 | GRIA4 [HSA:2893] [KO:K05200] | |
| H02889 | 知的発達障害および異形症を伴うまたは伴わない X 連鎖性てんかん | X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features (EPILX2) is a neurologic disorder with a range of epileptic seizure types, a varying degree of intellectual ... | 先天奇形 | GABRA3 [HSA:2556] [KO:K05175] | |
| H02890 | 言語発達遅滞および様々な認知異常を伴う神経発達障害 | Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a rare autosomal dominant disorder of neurodevelopmental delay and epilepsy with neurodevelopmental motor ... | 先天奇形 | GABBR1 [HSA:2550] [KO:K04615] | |
| H02891 | 言語能力の低下と手先の器用さの喪失を伴う神経発達障害 | Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) is an autosomal dominant disorder characterized by a cascade of intellectual, motor, and social disabilities, presenting ... | 先天奇形 | GABBR2 [HSA:9568] [KO:K04615] | |
| H02892 | 乳児てんかん発作を伴う神経発達障害 | Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by variable degrees of developmental delay, intellectual disability, and seizures. Mutations in the NCDN gene, encoding ... | 先天奇形 | NCDN [HSA:23154] [KO:K27819] | |
| H02893 | 甲状腺機能正常高サイロキシン血症 | Euthyroid hyperthyroxinemia is mostly due to thyroid hormone-binding protein disorders that cause elevated total T4 and normal TSH concentrations in the absence of hyperthyroidism. Family dysalbuminemic ... | 内分泌代謝疾患 |
(FDAH) ALB [HSA:213] [KO:K16141] (DTTRH) TTR [HSA:7276] [KO:K20731] |
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| H02894 | 言語障害、運動失調、てんかん発作を伴うまたは伴わない神経発達障害 | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is a suite of neurodevelopmental abnormalities displaying ataxia, motor and speech delay, and intellectual ... | 先天奇形 | GRIK2 [HSA:2898] [KO:K05202] | |
| H02895 | Lodder-Merla 症候群 | Lodder-Merla syndrome is an autosomal recessive multisystem disorder caused by mutations in GNB5, which encodes the G protein beta subunit 5. Recent studies have linked GNB5 mutations to a spectrum of ... | 循環器系疾患; 神経系疾患 | GNB5 [HSA:10681] [KO:K04539] | |
| H02896 | 皮膚肥満細胞症 | Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (MASTC), mast cells infiltration is ... | 新生物 | KIT [HSA:3815] [KO:K05091] | |
| H02897 | 家族性難治性吃音 | Stuttering (STUTS) is a common neurodevelopmental speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. Stuttering has been shown to be highly heritable ... | 精神及び行動の障害 | AP4E1 [HSA:23431] [KO:K12400] | |
| H02898 | Behr 症候群 | Behr syndrome (BEHRS) is an autosomal recessive syndrome characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral ... | 神経系疾患 | OPA1 [HSA:4976] [KO:K17079] | |
| H02899 | MORM 症候群 | Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, also known as MORM syndrome (MORMS), is a novel autosomal recessive disorder with a condition related to ... | 先天奇形 | INPP5E [HSA:56623] [KO:K20278] | |
| H02900 | Kahrizi 症候群 | Kahrizi syndrome is a novel autosomal recessive syndrome characterized by severe mental retardation, coloboma, cataract, and kyphosis. It has been reported that mutations in SRD5A3 cause this syndrome ... | 先天性代謝異常症 | SRD5A3 [HSA:79644] [KO:K12345] | |
| H02901 | GAPO 症候群 | GAPO syndrome is a rare syndrome characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy. It has been reported that mutations in ANTXR1 cause this syndrome. ANTXR1, anthrax toxin ... | 先天奇形 | ANTXR1 [HSA:84168] [KO:K20909] | |
| H02902 | 軟骨肉腫 | Chondrosarcomas constitute a heterogeneous group of primary bone cancers characterized by hyaline cartilaginous neoplastic tissue. Mutations in EXT1 have been identified in individuals with chondrosarcoma ... | がん | EXT1 [HSA:2131] [KO:K02366] | |
| H02903 | CHAND 症候群 | CHAND syndrome is a rare autosomal recessive ectodermal dysplasia characterized by the triad of ankyloblepharon, sparse and curly hair, and hypoplastic nails. It has been reported that mutations in RIPK4 ... | 先天奇形 | RIPK4 [HSA:54101] [KO:K08848] | |
| H02904 | CHAPLE 症候群 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia ... | 原発性免疫不全症 | CD55 [HSA:1604] [KO:K04006] | |
| H02905 | Santos 症候群 | Santos syndrome is a novel syndrome characterized by fibular agenesis/hypoplasia, clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause ... | 先天奇形 | WNT7A [HSA:7476] [KO:K00572] | |
| H02906 | 嚢胞性肺疾患 | Polycystic lung disease (PCLUD) is characterized by multiple intrapulmonary cysts. A lung cyst is an air-filled lucent structure surrounded by a thin wall. It has been reported that inherited CCR2 deficiency ... | 呼吸器系疾患 | CCR2 [HSA:729230] [KO:K04177] | |
| H02907 |
赤血球のATP上昇 ピルビン酸キナーゼ活性亢進 |
Elevated adenosine triphosphate of erythrocytes is an autosomal dominant abnormality of human erythrocyte. It was found that affected individuals had elevated red cell pyruvate kinase activity and mild ... | 血液疾患 | PKLR [HSA:5313] [KO:K12406] | |
| H02908 | Mitchell 症候群 | Mitchell syndrome (MITCH) is a rare and progressive autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. It has been reported that ... | 神経系疾患 | ACOX1 [HSA:51] [KO:K00232] | |
| H02909 | Hyperostosis cranialis interna | Hyperostosis cranialis interna (HCIN) is a rare autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. It has been reported that ... | 筋骨格疾患 | SLC39A14 [HSA:23516] [KO:K14720] | |
| H02910 | 錐体杆体ジストロフィー・感音性難聴およびファンコニ型腎機能障害 | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is a rare autosomal recessive syndrome affecting kidneys, eyes, and ears. It has been reported that mutations in ... | 先天奇形 | RRM2B [HSA:50484] [KO:K10808] | |
| H02911 | Paul-Chao 神経発達症候群 | Paul-Chao neurodevelopmental syndrome (NEDPACH) is a rare syndrome characterized by developmental delay, intellectual disability, hypotonia, autism, and epilepsy. It has been reported that mutations in ... | 先天奇形 | PPFIA3 [HSA:8541] [KO:K26226] | |
| H02912 | アカラシア・早老症候群 | Achalasia-progeroid syndrome (ACHPS) is a progressive disorder characterized by a typical facial appearance, achalasia, progressive hearing loss, and generalized lipodystrophy. It has been reported that ... | 先天奇形 | BUD13 [HSA:84811] [KO:K13106] | |
| H02913 | Rahman 症候群 | Rahman syndrome (RMNS) is a recently described congenital anomaly syndrome characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral ... | 先天奇形 | H1-4 [HSA:3008] [KO:K11275] | |
| H02914 | 黄斑部ぶどう腫を伴う(伴わない)網膜ジストロフィー | Retinal dystrophy with or without macular staphyloma (RDMS) is an autosomal recessive early-onset retinal dystrophy. It has been reported that mutations in CFAP410 cause this disease. CFAP410 encodes a ... | 神経系疾患 | CFAP410 [HSA:755] [KO:K23456] | |
| H02915 | Huriez 症候群 | Huriez syndrome (HRZ) is a rare autosomal dominant genodermatosis characterized by congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous ... | 先天奇形 | SMARCAD1 [HSA:56916] [KO:K14439] | |
| H02916 | Fischer-Zirnsak 早老症候群 | Fischer-Zirnsak progeroid syndrome (FZPS) is a novel developmental disorder characterized by intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. It has been reported ... | 先天奇形 | SUPT7L [HSA:9913] [KO:K11316] | |
| H02917 | Wiedemann-Rautenstrauch 症候群 | Wiedemann-Rautenstrauch syndrome (WDRTS), also known as neonatal progeroid syndrome, is a rare autosomal recessive condition characterized by growth retardation, sparse scalp hair, generalised lipodystrophy ... | 先天奇形 | POLR3A [HSA:11128] [KO:K03018] |