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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| H02377 | ジストニアを伴う（または伴わない）白質ジストロフィーおよび後天性小頭症 | Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin ... | 神経系疾患 | PLEKHG2 [HSA:64857] [KO:K23859] | |
| H02378 | 筋緊張低下・運動失調および成長遅滞症候群 | Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been ... | 先天奇形 | EBF3 [HSA:253738] [KO:K09103] | |
| H02379 | リケッチア痘 | Rickettsialpox is an infectious disease caused by Rickettsia akari, an intracellular gram-negative bacterium, and transmitted by the house mouse mite, Liponyssoides sanguineus. It was initially described ... | 細菌感染症 | ||
| H02380 | D-グリセリン酸尿症 | D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding ... | 先天性代謝異常症 | GLYCTK [HSA:132158] [KO:K11529] | |
| H02381 | 口蓋裂・精神運動発達遅滞・顔異形症 | Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features ... | 先天奇形 | KDM1A [HSA:23028] [KO:K11450] | |
| H02382 | Bainbridge-Ropers 症候群 | Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech ... | 先天奇形 | ASXL3 [HSA:80816] [KO:K11471] | |
| H02383 | 顔面中部低形成・難聴・楕円赤血球症および腎石灰化症 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region ... | 先天奇形 | AMMECR1 [HSA:9949] [KO:K24611] | |
| H02384 |
腹部肥満・メタボリック症候群 メタボリックシンドローム X |
Abdominal obesity-metabolic syndrome (AOMS) is also known as syndrome X or insulin resistance syndrome. Insulin resistance is a key abnormality associated with an atherogenic, prothrombotic, and inflammatory ... | 内分泌代謝疾患 |
(AOMS3) DYRK1B [HSA:9149] [KO:K08825] (AOMS4) CELA2A [HSA:63036] [KO:K01346] |
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| H02385 | 真菌性菌腫 | Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions ... | 真菌感染症 | ||
| H02386 | 黒色菌糸症 | Phaeohyphomycosis is an infectious disease caused by many species of dematiaceous fungi. It is associated with a wide range of inflammatory responses. Over 100 species and 60 genera of dematiaceous fungi ... | 真菌感染症 | ||
| H02387 | Snijders Blok-Fisher 症候群 | Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems ... | 精神及び行動の障害 | POU3F3 [HSA:5455] [KO:K09365] | |
| H02388 | 乳児期発症四肢および口腔顔面ジスキネジア | Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the ... | 神経系疾患 | (IOLOD) PDE10A [HSA:10846] [KO:K18438] | |
| H02389 | 顔面痙攣を伴う家族性ジスキネジア | Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause ... | 神経系疾患 | ADCY5 [HSA:111] [KO:K08045] | |
| H02390 | 常染色体劣性遺伝性神経性筋強直および軸索性ニューロパチー | Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function ... | 神経系疾患 | HINT1 [HSA:3094] [KO:K02503] | |
| H02391 | 乳児期発症多系統神経・内分泌・膵臓疾患 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual ... | 先天奇形 |
(IMNEPD1) PTRH2 [HSA:51651] [KO:K04794] (IMNEPD2) YARS1 [HSA:8565] [KO:K01866] |
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| H02392 | スケドスポリウム症 | Scedosporiosis caused by the genus Scedosporium has emerged as a severe infection in both immunocompromised and immunocompetent individuals with a high incidence, ranging from localized to disseminated ... | 真菌感染症 | ||
| H02393 |
タラロマイセス症 ペニシリウム症 |
Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised ... | 真菌感染症 | ||
| H02394 | 口蓋裂・心臓欠陥および精神遅滞 | Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has ... | 先天奇形 | MEIS2 [HSA:4212] [KO:K16670] | |
| H02395 | 骨脆弱性を伴う頭蓋冠ドーナツ病変 | Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, ... | 筋骨格疾患 | SGMS2 [HSA:166929] [KO:K04714] | |
| H02396 | 顔異形と小脳性運動失調を伴う脳梁無形成 | Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia ... | 先天奇形 | FRMD4A [HSA:55691] [KO:K23970] | |
| H02397 | 運動異常や筋緊張低下を伴う神経発達障害 | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | 先天奇形 |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA/NEDSBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDPM) ACBD6 [HSA:84320] [KO:K27751] (NEDPBA) PTRHD1 [HSA:391356] [KO:K05969] (NEDTCHAL) EEF1D [HSA:1936] [KO:K15410] (NEDMAB) KCNN2 [HSA:3781] [KO:K04943] (NEDBSPG) TBCB [HSA:1155] [KO:K17262] |
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| H02398 | 新型コロナウイルス感染症 | Coronavirus disease of 2019 (COVID-19) is a highly contagious respiratory infection that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial ... | ウイルス感染症 | hsa05171 Coronavirus disease - COVID-19 | |
| H02399 | 原発性アメーバ性髄膜脳炎 | Primary amoebic meningoencephalitis (PAM) is a perilous and devastating waterborne disease caused by Naegleria fowleri. N. fowleri is a free-living, thermophilic amoeba distributed worldwide in soil and ... | 寄生虫感染症 | ||
| H02400 | リノスポリジウム症 | Rhinosporidiosis is a chronic, granulomatous infection caused by Rhinosporidium seeberi, a protist belonging to the mesomycetozoea family of aquatic parasites, which primarily affects the mucous membranes ... | 寄生虫感染症 | ||
| H02401 | アカントアメーバ感染症 | Acanthamoebiasis is a rare infectious disease caused by free-living amoebae belonging to the genus Acanthamoeba. Acanthamoeba are the causative agents of granulomatous amebic encephalitis (GAE) and amebic ... | 寄生虫感染症 | ||
| H02402 |
甲状腺眼病 グレーブス眼病 |
Thyroid eye disease (TED), also called Graves ophthalmopathy, is an autoimmune disorder of the retrobulbar tissue. It is the most frequent extrathyroidal manifestation of Graves disease [DS:H00082]. Although ... | 免疫系疾患 | ||
| H02403 | 住血線虫症 | Angiostrongyliasis is a food-borne parasitic zoonosis caused by nematode worms of the genus Angiostrongylus. Over 20 species of Angiostrongylus are currently recognized. Two species, A. cantonensis and ... | 寄生虫感染症 | ||
| H02404 | 毛頭虫症 | Capillariasis is an infectious disease caused by nematode worms of the genus Capillaria. Intestinal capillariasis caused by Capillaria philippinensis appeared first in the Philippines in 1964. Major outbreaks ... | 寄生虫感染症 | ||
| H02405 | 牛腸結節虫症 | Oesophagostomiasis is an infectious disease normally caused by Oesophagostomum bifurcum. Oesophagostomum bifurcum is highly and focally endemic in northern Ghana and Togo. Oesophagostomum species in man ... | 寄生虫感染症 | ||
| H02406 | 気管線虫症 | Syngamosis is a quite rare infectious disease caused by nematodes of the genus Mammomonogamus. Mammomonogamus laryngeus is the most common agent of human syngamosis. It was first demonstrated in 1899. ... | 寄生虫感染症 |