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 |
|---|---|---|---|---|---|
| H02768 | Garg-Mishra 早老症候群 | Garg-Mishra progeroid syndrome (GMPGS) is an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. It has been reported that ... | 先天奇形 | TOMM7 [HSA:54543] [KO:K17771] | |
| H02769 | Tolchin-Le Caignec 症候群 | Tolchin-Le Caignec syndrome (TOLCAS) is a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas. It has been reported that mutations in SOX6 cause this syndrome. SOX6 ... | 先天奇形 | SOX6 [HSA:55553] [KO:K09269] | |
| H02770 | 神経変性と脳の石灰化を伴う早期発症てんかん発作 | Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is a severe infantile-onset neurodegenerative disease characterized by refractory epilepsy, developmental regression, and ... | 神経系疾患 | NRROS [HSA:375387] [KO:K26317] | |
| H02771 | 視神経萎縮と可逆性白質脳症を伴う(伴わない) 一過性ミトコンドリアミオパチー | Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an adolescent onset mitochondrial myopathy. It has been reported that mutations in FDX2 cause ... | 神経系疾患 | FDX2 [HSA:112812] [KO:K22071] | |
| H02772 | Neurooculocardiogenitourinary 症候群 | Neurooculocardiogenitourinary syndrome (NOCGUS) is a severe multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac ... | 先天奇形 | WDR37 [HSA:22884] [KO:K24744] | |
| H02773 | 月経周期依存性周期熱 | Menstrual cycle-dependent periodic fever (PFMCD) is a rare disease characterized by recurrent high fever with each menstrual cycle. It has been reported mutations in HTR1A cause this disease. HTR1A encodes ... | 内分泌代謝疾患 | HTR1A [HSA:3350] [KO:K04153] | |
| H02774 | 低タウリン血性網膜変性および心筋症 | Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is a novel autosomal recessive disorder characterized by progressive childhood retinal degeneration, cardiomyopathy, and almost undetectable ... | 先天性代謝異常症 | SLC6A6 [HSA:6533] [KO:K05039] | |
| H02775 | 視力障害および進行性眼球癆 | Visual impairment and progressive phthisis bulbi (VIPB) is a rare autosomal recessive disorder characterized by congenital vision loss and progressive eye degeneration. It has been reported that mutations ... | 神経系疾患 | MARK3 [HSA:4140] [KO:K08798] | |
| H02776 | 脳室拡大および関節拘縮症 | Ventriculomegaly and arthrogryposis (VENARG) is a rare autosomal recessive lethal fetal syndrome characterized by dilated cerebral ventricles and contracted limbs. It has been reported that mutations in ... | 先天奇形 | KIDINS220 [HSA:57498] [KO:K12460] | |
| H02777 | 痙性対麻痺・知的障害・眼振および肥満 | Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is a rare autosomal dominant disorder characterized by lower-limb hypertonia and weakness combined with obesity and intellectual ... | 神経系疾患 | KIDINS220 [HSA:57498] [KO:K12460] | |
| H02778 | 知的発達障害を伴う(伴わない)全般的発達遅滞 | Global developmental delay is a chronic neurological disturbance that includes defects in one or more developmental domains. It has been reported that mutations in CUX1 cause global developmental delay ... | 神経系疾患 | CUX1 [HSA:1523] [KO:K09313] | |
| H02779 | リボフラビン反応性運動不耐 | Riboflavin-responsive exercise intolerance (RREI) is an autosomal recessive disorder with a neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance ... | 先天性代謝異常症 | SLC25A32 [HSA:81034] [KO:K15115] | |
| H02780 | Liberfarb 症候群 | Liberfarb syndrome (LIBF) is a multisystem disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis ... | 先天奇形 | PISD [HSA:23761] [KO:K01613] | |
| H02781 | 紅斑角皮症を伴う魚鱗癬 | Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant cornification disorder. It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation ... | 先天奇形 | KLK11 [HSA:11012] [KO:K09620] | |
| H02782 | Fliedner-Zweier 症候群 | Fliedner-Zweier syndrome (FZS) is a novel autosomal dominant neurodevelopmental disorder characterized by intellectual disability, seizures, behavioral abnormalities, facial dysmorphisms, and skeletal ... | 先天奇形 | SCAF4 [HSA:57466] [KO:K13167] | |
| H02783 | Myopathy with rimmed ubiquitin-positive autophagic vacuolation | Myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is an autosomal dominant myopathy characterized clinically by weakness in distal muscles and pathologically by rimmed ubiquitin-positive ... | 筋骨格疾患 | PLIN4 [HSA:729359] [KO:K20254] | |
| H02784 | 言語行動異常を伴う全般的発達遅滞 | Global developmental delay with speech and behavioral abnormalities (GDSBA) is a rare genetic disorder characterized by developmental delay/intellectual disability and a spectrum of neurobehavioral phenotypes ... | 精神及び行動の障害 | TNRC6B [HSA:23112] [KO:K18412] | |
| H02785 | 異所性灰白質 | Band heterotopia (BH) is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms vary in severity of intellectual disability and may be associated with ... | 先天奇形 | EML1 [HSA:2009] [KO:K18595] | |
| H02786 | ENDOVE 症候群 | ENDOVE syndrome is a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified ... | 先天奇形 | EN1 [HSA:2019] [KO:K09319] | |
| H02787 | マーバッシュ病 | Mahvash disease (MVAH) is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha cell hyperplasia. It has ... | 内分泌代謝疾患 | GCGR [HSA:2642] [KO:K04583] | |
| H02788 | Childhood-onset remitting leukodystrophy | Childhood-onset remitting leukodystrophy (CORLK) is a novel white matter disease characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete recovery ... | 神経系疾患 | FBP2 [HSA:8789] [KO:K03841] | |
| H02789 | 家族性ミオクローヌス | Myoclonus (MYOCL) is characterized by sudden, brief involuntary movements. It can be severely debilitating. Myoclonus is thought to arise from spinal, subcortical, or cortical neuronal hyperexcitability ... | 神経系疾患 |
(MYOCL1) NOL3 [HSA:8996] [KO:K28177] (MYOCL2) SCN8A [HSA:6334] [KO:K04840] |
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| H02790 | 低カリウム血性細尿管症および難聴 | Hypokalemic tubulopathy and deafness (HKTD) is a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. It has been reported that mutations in KCNJ16 ... | 先天性代謝異常症 | KCNJ16 [HSA:3773] [KO:K05009] | |
| H02791 | 筋痛、血清クレアチンキナーゼ上昇および周期性横紋筋融解を伴う(伴わない)ミオパチー | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MMCKR) is a rare autosomal recessive myopathy with elevated creatine kinase level. It has been reported ... | 筋骨格疾患 |
(MMCKR1) MLIP [HSA:90523] [KO:K27832] (MMCKR2) DTNA [HSA:1837] [KO:K26998] |
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| H02792 | 免疫調節障害・自己免疫および自己炎症性疾患 | Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is a new immune dysregulation disease. It has been reported that a gain-of-function mutation in PLCG1 causes this disease. PLCG1 encodes ... | 免疫系疾患 | PLCG1 [HSA:5335] [KO:K01116] | |
| H02793 | Temtamy 症候群 | Temtamy syndrome (TEMTYS) is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. It has been reported that mutations in C12orf57 ... | 先天奇形 | C12orf57 [HSA:113246] | |
| H02794 | 小角膜・錐体杆体ジストロフィー・白内障および後部ぶどう腫 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome is a rare genetic retinal dystrophy disorder. It has been reported that mutations in ARL2 cause MRCS syndrome. ARL2 encodes ... | 先天奇形 | ARL2 [HSA:402] [KO:K07943] | |
| H02795 | 無茎性鋸歯状ポリポーシス癌症候群 | The serrated polyposis syndrome comprises multiple epithelial polyps in the colon and rectum of serrated histology. The serrated polyposis syndrome is associated with colorectal cancer risk. Recently, ... | 新生物 | RNF43 [HSA:54894] [KO:K15694] | |
| H02796 | 瞳孔反射異常を伴う自律神経膀胱機能障害および先天性腎尿路奇形 | Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (BAIPRCK) is an autosomal recessive disease characterized by congenital anomalies of the kidney and urinary tract (CAKUT) ... | 先天奇形 | CHRNA3 [HSA:1136] [KO:K04805] | |
| H02797 | Siddiqi 症候群 | Siddiqi syndrome (SIDDIS) is a novel autosomal recessive deafness-dystonia syndrome. It has been reported that mutations in FITM2 cause this syndrome. FITM2 is required for normal fat storage and metabolism ... | 先天奇形 | FITM2 [HSA:128486] [KO:K28100] |