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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| H01897 | 卵母細胞/受精卵/胚成熟停止 | Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... | 生殖器系疾患 |
(OZEMA1) ZP1 [HSA:22917] [KO:K19926] (OZEMA2) TUBB8 [HSA:347688] [KO:K07375] (OZEMA3) ZP3 [HSA:7784] [KO:K19928] (OZEMA4) PATL2 [HSA:197135] [KO:K24823] (OZEMA5) WEE2 [HSA:494551] [KO:K06632] (OZEMA6) ZP2 [HSA:7783] [KO:K19927] (OZEMA7) PANX1 [HSA:24145] [KO:K03443] (OZEMA8) BTG4 [HSA:54766] [KO:K14443] (OZEMA9) TRIP13 [HSA:9319] [KO:K22399] (OZEMA10) REC114 [HSA:283677] [KO:K26084] (OZEMA11) ASTL [HSA:431705] [KO:K08778] (OZEMA12) FBXO43 [HSA:286151] [KO:K10318] (OZEMA13) ZFP36L2 [HSA:678] [KO:K18753] (OZEMA14) CDC20 [HSA:991] [KO:K03363] (OZEMA15) TLE6 [HSA:79816] [KO:K04497] (OZEMA16) PADI6 [HSA:353238] [KO:K01481] (OZEMA17) KPNA7 [HSA:402569] [KO:K15043] (OZEMA18) NLRP2 [HSA:55655] [KO:K19409] (OZEMA19) NLRP5 [HSA:126206] [KO:K22626] (OZEMA20) MOS [HSA:4342] [KO:K04367] (OZEMA21) CHEK1 [HSA:1111] [KO:K02216] (OZEMA22) PABPC1L [HSA:80336] [KO:K13126] (OZEMA23) TUBA4A [HSA:7277] [KO:K07374] (OZEMA24) TUBA1C [HSA:84790] [KO:K07374] (OZEMA25) NLRP7 [HSA:199713] [KO:K20864] |
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| H01898 | PNPLA6 関連疾患 | PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper ... | 神経系疾患 | PNPLA6 [HSA:10908] [KO:K14676] | |
| H01899 | 読字障害 | Dyslexia is defined by severe difficulties in reading acquisition, often accompanied by spelling difficulties and affects a large number of people (5-10%). It is caused by multiple genetic and environmental ... | 精神及び行動の障害 |
(DYX1) DNAAF4 [HSA:161582] [KO:K19758] (DYX2) AAVR [HSA:9856] [KO:K24403] |
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| H01900 | ミトコンドリアおよびペルオキシソームの分裂異常による脳症 | Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long ... | 先天性代謝異常症 |
DNM1L [HSA:10059] [KO:K17065] MFF [HSA:56947] [KO:K22076] |
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| H01901 | バレット食道 | Barrett esophagus (BE) is the premalignant lesion of esophageal adenocarcinoma (EAC) defined as specialized intestinal metaplasia (SIM) of the tubular esophagus. According to some studies, the incidence ... | 消化器系疾患 |
MSR1 [HSA:4481] [KO:K06558] CTHRC1 [HSA:115908] [KO:K25700] ASCC1 [HSA:51008] [KO:K18666] |
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| H01902 | 脆弱角膜症候群 | Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of ... | 先天奇形 |
(BCS1) ZNF469 [HSA:84627] [KO:K27861] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
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| H01903 | Brown-Vialetto-Van Laere 症候群 | Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded ... | 神経変性疾患 |
(BVVLS1) SLC52A3 [HSA:113278] [KO:K14620] (BVVLS2) SLC52A2 [HSA:79581] [KO:K22117] |
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| H01904 |
線状皮膚欠損を伴う小眼球症 多発性先天奇形を伴う線状皮膚欠損 MIDAS 症候群 |
Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with ... | 先天奇形 |
(LSDMCA1) HCCS [HSA:3052] [KO:K01764] (LSDMCA2) COX7B [HSA:1349] [KO:K02271] (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351] |
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| H01905 | 長睫毛症 | Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial ... | 皮膚疾患 | FGF5 [HSA:2250] [KO:K04358] | |
| H01906 | 腱性拘縮・ミオパチー・肺線維症を伴う遺伝性線維化多形皮膚萎縮症 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are ... | 先天奇形 | FAM111B [HSA:374393] [KO:K24275] | |
| H01907 | 酸不安定サブユニット欠損症 | Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene ... | 内分泌代謝疾患 | IGFALS [HSA:3483] [KO:K17256] | |
| H01908 | Carey‐Fineman‐Ziter 症候群 | Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other ... | 先天奇形 |
(CFZS1) MYMK [HSA:389827] [KO:K24577] (CFZS2) MYMX [HSA:101929726] [KO:K24578] |
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| H01909 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic ... | 先天性代謝異常症 | AKT2 [HSA:208] [KO:K04456] | |
| H01910 | 乳児筋線維腫症 | Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 ... | 新生物 |
(IMF1) PDGFRB [HSA:5159] [KO:K05089] (IMF2) NOTCH3 [HSA:4854] [KO:K20995] |
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| H01911 | 常染色体劣性遺伝性精神遅滞症候群 | Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive ... | 精神及び行動の障害 |
(MRT34) CRADD [HSA:8738] [KO:K02832] (MRAMS) SOBP [HSA:55084] [KO:K27304] |
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| H01912 | CLOVE 症候群 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose ... | 先天奇形 | PIK3CA [HSA:5290] [KO:K00922] | |
| H01913 | レンペニング症候群 | Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly ... | 先天奇形 | PQBP1 [HSA:10084] [KO:K12865] | |
| H01914 | クリスチャンソン症候群 | Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent ... | 先天奇形 | SLC9A6 [HSA:10479] [KO:K12041] | |
| H01915 | Borjeson-Forssman-Lehmann 症候群 | Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ... | 先天奇形 | PHF6 [HSA:84295] [KO:K23310] | |
| H01916 | Stocco dos Santos X連鎖性精神遅滞症候群 | Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short ... | 先天奇形 | SHROOM4 [HSA:57477] [KO:K18625] | |
| H01917 | CK 症候群 | CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral ... | 先天奇形 | NSDHL [HSA:50814] [KO:K07748] | |
| H01918 | 常染色体劣性遺伝性高コレステロール血症 | Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias ... | 先天性代謝異常症 | LDLRAP1 [HSA:26119] [KO:K12474] | |
| H01919 | Proud 症候群 | Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation ... | 先天奇形 | ARX [HSA:170302] [KO:K09452] | |
| H01920 | Partington 症候群 | Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis ... | 神経系疾患 | ARX [HSA:170302] [KO:K09452] | |
| H01921 | MICPCH 症候群 | Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly ... | 先天奇形 | CASK [HSA:8573] [KO:K06103] | |
| H01922 | 精神運動遅滞と特徴的顔貌を伴う小児筋緊張低下 | Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment ... | 先天奇形 |
(IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
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| H01923 | 小頭症・低身長・グルコース代謝異常 | Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation ... | 先天奇形 |
(MSSGM1) TRMT10A [HSA:93587] [KO:K15445] (MSSGM2) PPP1R15B [HSA:84919] [KO:K17558] |
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| H01924 |
シデナム舞踏病 小舞踏病 |
Sydenham chorea is a disabling pediatric hyperkinetic and neuropsychiatric disorder following streptococcal infection. Sydenham chorea occurs in approximately 10% of acute rheumatic fever and is one of ... | 免疫系疾患; 神経系疾患 | ||
| H01925 | 一過性乳児亜鉛欠乏症 | Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently ... | 先天性代謝異常症 | SLC30A2 [HSA:7780] [KO:K14689] | |
| H01926 | 心室中隔欠損症 | Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital ... | 循環器系疾患 |
(VSD1) GATA4 [HSA:2626] [KO:K09183] (VSD2) CITED2 [HSA:10370] [KO:K21361] (VSD3) NKX2-5 [HSA:1482] [KO:K09345] |