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 |
|---|---|---|---|---|---|
| H02107 |
クリスタリン網膜症 Bietti 結晶性角膜網膜ジストロフィー |
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment ... | 神経系疾患 | CYP4V2 [HSA:285440] [KO:K07427] | |
| H02108 | 基底膜ドルーゼン | Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised ... | 神経系疾患 | CFH [HSA:3075] [KO:K04004] | |
| H02109 | マロン酸およびメチルマロン酸尿合併症 | Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of ... | 先天性代謝異常症 | ACSF3 [HSA:197322] [KO:K18660] | |
| H02110 |
Doyne 蜂巣状網膜ジストロフィー 家族性ドルーゼン |
Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment ... | 神経系疾患 | EFEMP1 [HSA:2202] [KO:K18262] | |
| H02111 |
自閉症 自閉症スペクトラム障害 広汎性発達障害 |
Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... | 精神及び行動の障害 |
(AUTS15) CNTNAP2 [HSA:26047] [KO:K07380] (AUTS16) SLC9A9 [HSA:285195] [KO:K14725] (AUTS17) SHANK2 [HSA:22941] [KO:K15009] (AUTS18) CHD8 [HSA:57680] [KO:K04494] (AUTS19) EIF4E [HSA:1977] [KO:K03259] (AUTS20) NLGN1 [HSA:22871] [KO:K07378] (AUTSX1) NLGN3 [HSA:54413] [KO:K07378] (AUTSX2) NLGN4X [HSA:57502] [KO:K07378] (AUTSX3) MECP2 [HSA:4204] [KO:K11588] (AUTSX4) PTCHD1 [HSA:139411] [KO:K24682] (AUTSX5) RPL10 [HSA:6134] [KO:K02866] (AUTSX6) TMLHE [HSA:55217] [KO:K00474] |
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| H02112 |
硝子体血管系遺残 第一次硝子体過形成遺残 |
Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary ... | 神経系疾患 | ATOH7 [HSA:220202] [KO:K09083] | |
| H02113 | 小児小脳-網膜変性症 | Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense ... | 先天性代謝異常症; 神経系疾患 | ACO2 [HSA:50] [KO:K01681] | |
| H02114 | Spastic paraplegia, optic atrophy, and neuropathy | Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset ... | 神経系疾患 | KLC2 [HSA:64837] [KO:K10407] | |
| H02115 | 先天性外耳道閉鎖症 | Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, ... | 先天奇形 | TSHZ1 [HSA:10194] [KO:K09236] | |
| H02116 | ホスホセリンホスファターゼ欠損症 | Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome ... | 先天性代謝異常症 | PSPH [HSA:5723] [KO:K01079] | |
| H02117 | Neu-Laxova 症候群 | Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is ... | 先天性代謝異常症 |
PHGDH [HSA:26227] [KO:K00058] PSAT1 [HSA:29968] [KO:K00831] |
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| H02118 | Otocephaly | Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or ... | 先天奇形 | PRRX1 [HSA:5396] [KO:K09329] | |
| H02119 | プロテウス症候群 | Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, ... | 先天奇形 | AKT1 [HSA:207] [KO:K04456] | |
| H02120 | 無脳症 | Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors ... | 先天奇形 |
(ANPH1) TRIM36 [HSA:55521] [KO:K12013] (ANPH2) NUAK2 [HSA:81788] [KO:K08800] |
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| H02121 |
Koolen-De Vries 症候群 17q21.31 微細欠失症候群 |
Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and ... | 染色体異常 | KANSL1 [HSA:284058] [KO:K18400] | |
| H02122 | CAID 症候群 | Chronic atrial and intestinal dysrhythmia, termed CAID syndrome, is a cohesinopathy syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has been ... | 循環器系疾患 | SGOL1 [HSA:151648] [KO:K11580] | |
| H02123 | セリアック病 | Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient ... | 消化器系疾患 |
(CELIAC1) HLA-DQA1 [HSA:3117] [KO:K06752] (CELIAC1) HLA-DQB1 [HSA:3119] [KO:K06752] (CELIAC3) CTLA4 [HSA:1493] [KO:K06538] (CELIAC4) MYO9B [HSA:4650] [KO:K10360] |
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| H02124 |
間質性肺炎および肝疾患 (ILLD) 肝障害を伴う遺伝性肺胞蛋白症 |
Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood ... | 呼吸器系疾患 | (ILLD) MARS [HSA:4141] [KO:K01874] | |
| H02125 | 拡張型心筋症を伴う（または伴わない）心臓伝導障害 | Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy ... | 循環器系疾患 |
(CCCM1) TNNI3K [HSA:51086] [KO:K17535] (CCCM2) POPDC2 [HSA:64091] [KO:K26206] |
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| H02126 | Mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia ... | 先天奇形 | EDNRA [HSA:1909] [KO:K04197] | |
| H02127 | Yunis-Varon 症候群 | Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and ... | 先天奇形 | FIG4 [HSA:9896] [KO:K22913] | |
| H02128 | リソソーム輸送障害 | Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides ... | 先天性代謝異常症 | ||
| H02129 | Prune belly 症候群 | Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. ... | 先天奇形 | CHRM3 [HSA:1131] [KO:K04131] | |
| H02130 |
ムコリピドーシス III 型 偽 Hurler ポリジストロフィー |
Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients ... | 先天性代謝異常症, ライソゾーム病 |
(alpha/beta) GNPTAB [HSA:79158] [KO:K08239] (gamma) GNPTG [HSA:84572] [KO:K10087] |
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| H02131 | 紫外線高感受性症候群 | UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity ... | 皮膚疾患 |
(UVSS1) ERCC6 [HSA:2074] [KO:K10841] (UVSS2) ERCC8 [HSA:1161] [KO:K10570] (UVSS3) UVSSA [HSA:57654] [KO:K23720] |
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| H02132 | 小頭症症候群 | Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... | 先天奇形 |
(MCPHSBA) MED17 [HSA:9440] [KO:K15133] (MSCCA) QARS [HSA:5859] [KO:K01886] (MCCPD) MSMO1 [HSA:6307] [KO:K07750] (MEDS1) IER3IP1 [HSA:51124] [KO:K22939] (MEDS2) YIPF5 [HSA:81555] [KO:K20363] (MIMIS/MISSLA) DONSON [HSA:29980] [KO:K22422] (MSSP) RTTN [HSA:25914] [KO:K16484] (MFRG) CTU2 [HSA:348180] [KO:K14169] (MCIDDS) KCNA4 [HSA:3739] [KO:K04877] (MIGSB) WDR4 [HSA:10785] [KO:K15443] (MDBH) CARS1 [HSA:833] [KO:K01883] (SCBMS) DIAPH1 [HSA:1729] [KO:K05740] |
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| H02133 | Vici 症候群 | Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and ... | 免疫系疾患 | EPG5 [HSA:57724] [KO:K23883] | |
| H02134 |
四肢異常を伴う眼球低形成 眼肢端症候群 |
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral ... | 先天奇形 | SMOC1 [HSA:64093] [KO:K24354] | |
| H02135 | 錐体杆体ジストロフィーおよび難聴 | Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating ... | 神経系疾患 |
(CRDHL1) CEP78 [HSA:84131] [KO:K16765] (CRDHL2) CEP250 [HSA:11190] [KO:K16464] |
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| H02136 |
分岐鎖ケト酸脱水素酵素キナーゼ欠損症 BCKDK 欠損症 |
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low ... | 先天性代謝異常症 | BCKDK [HSA:10295] [KO:K00905] |