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
H01325 放線菌症 Actinomycosis is an uncommon chronic granulomatous infection caused by several members of the order Actinomycetales, most notably, Actinomyces israelii. Additional species that are established but less ... 細菌感染症
H01326 手足口病 Hand, foot and mouth disease (HFMD) is a common infection among infants and young children caused by certain enteroviruses in the Picornaviridae family of +ssRNA viruses, such as Coxsackievirus A16 and ... ウイルス感染症
H01327 ヘルパンギーナ Herpangina is a mouth infection caused by coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses, affecting mostly children in summer. ウイルス感染症
H01328 アスペルギルス症 Pulmonary aspergillus infections can be classified based on clinical syndromes into saprophytic infections, allergic disease and invasive disease. Invasive pulmonary aspergillosis, occurring in immunocompromised ... 真菌感染症 CLEC1A (susceptibility) [HSA:51267] [KO:K10069]
CLEC7A (susceptibility) [HSA:64581] [KO:K10074]
H01329 パラコクシジオイデス症 Paracoccidioidomycosis is a systemic endemic mycosis caused by Paracoccidioides brasiliensis and Paracoccidioides lutzii, exhibiting geographically restricted distribution from southern Mexico to northern ... 真菌感染症
H01330 ブラジル紫斑熱 Brazilian purpuric fever (BPF) is a pediatric disease caused by Haemophilus influenzae biogroup aegyptius (H. aegyptius) and is often fatal. This disease is characterized by purulent conjunctivitis and ... 細菌感染症
H01331 齲蝕
虫歯
Dental caries occurs due to demineralization of enamel and dentine (the hard tissues of the teeth) by organic acids formed by bacteria in dental plaque through the anaerobic metabolism of sugars derived ... 細菌感染症
H01332 Helicobacter heilmannii 感染 Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats ... 細菌感染症
H01333 非アルコール性脂肪肝疾患 It has been reported that those patients with non-alcoholic fatty liver disease (NAFLD) are probably more common in those individuals with metabolic syndrome, which includes obesity and type 2 diabetes ... 消化器系疾患 hsa04932 Non-alcoholic fatty liver disease
H01334 癜風 Tinea versicolor, also known as pityriasis versicolor, dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including ... 真菌感染症
H01335 Photorhabdus asymbiotica 感染 Photorhabdus are Gram-negative nematode-symbiotic and insect-pathogenic bacteria. The species Photorhabdus asymbiotica can infect humans as well as insects. P. asymbiotica causes both locally invasive ... 細菌感染症
H01336 微胞子虫症 The genus Encephalitozoon are spore-forming obligate intracellular microsporidian parasites that infect a wide range of organisms, including protists, invertebrates, humans, and many other vertebrates ... 真菌感染症
H01337 Laribacter hongkongensis 感染 Laribacter hongkongensis is a facultatively anaerobic, nonsporulating, gram-negative, spiral rod-shaped bacterium belongs to the Neisseriaceae family of the beta-subclass of Proteobacteria. L. hongkongensis ... 細菌感染症
H01338 筋硬化症 Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe ... 神経系疾患; 筋骨格疾患 COL6A2 [HSA:1292] [KO:K06238]
H01339 無症候性細菌尿 The term asymptomatic bacteriuria is generally used to distinguish colonization from infection and to emphasize that the presence of bacteria at mucosal surfaces does not always cause symptoms and tissue ... 細菌感染症
H01340 ベスレムミオパチー Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has ... 神経系疾患; 筋骨格疾患 (BTHLM1A) COL6A1 [HSA:1291] [KO:K06238]
(BTHLM1B) COL6A2 [HSA:1292] [KO:K06238]
(BTHLM1C) COL6A3 [HSA:1293] [KO:K06238]
H01341 6型コラーゲン関連筋疾患 Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these ... 神経系疾患; 筋骨格疾患 COL6A1 [HSA:1291] [KO:K06238]
COL6A2 [HSA:1292] [KO:K06238]
COL6A3 [HSA:1293] [KO:K06238]
H01342 ツェルウエーガー症候群 Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia ... 先天性代謝異常症 (PBD1A) PEX1 [HSA:5189] [KO:K13338]
(PBD2A) PEX5 [HSA:5830] [KO:K13342]
(PBD3A) PEX12 [HSA:5193] [KO:K13345]
(PBD4A) PEX6 [HSA:5190] [KO:K13339]
(PBD5A) PEX2 [HSA:5828] [KO:K06664]
(PBD6A) PEX10 [HSA:5192] [KO:K13346]
(PBD7A) PEX26 [HSA:55670] [KO:K13340]
(PBD8A) PEX16 [HSA:9409] [KO:K13335]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]
H01343 Pantoea ananatis 感染 Pantoea ananatis, a gram-negative, motile rod belonging to the family Enterobacteriaceae, is known as an emerging phytopathogen infecting a wide range of important crop and forest plants, and has been ... 細菌感染症
H01344 ナイミーヘン染色体不安定症候群 Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder ... 免疫系疾患 (NBS) NBN (Nibrin) [HSA:4683] [KO:K10867]
(NBSLD) RAD50 [HSA:10111] [KO:K10866]
H01345 Providencia stuartii 感染 Providencia is a gram-negative urea-metabolizing bacillus that readily incorporates DNA from other bacteria, enabling it to acquire resistance to a broad spectrum of antibiotics. Providencia stuartii is ... 細菌感染症
H01346 ブルーム症候群
MGRISCE1
Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive ... 先天奇形 BLM [HSA:641] [KO:K10901]
H01347 ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群 MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial ... 先天性代謝異常症, ミトコンドリア病 (MTTL1) TRNL1 [HSA:4567] [KO:K14228]
(MTTQ) TRNQ [HSA:4572] [KO:K14223]
(MTTH) TRNH [HSA:4564] [KO:K14226]
(MTTK) TRNK [HSA:4566] [KO:K14229]
(MTTC) TRNC [HSA:4511] [KO:K14222]
(MTTS1) TRNS1 [HSA:4574] [KO:K14233]
(MTTS2) TRNS2 [HSA:4575] [KO:K14233]
(MTTF) TRNF [HSA:4558] [KO:K14231]
(MTTV) TRNV [HSA:4577] [KO:K14237]
(MTTW) TRNW [HSA:4578] [KO:K14235]
(MTND1) ND1 [HSA:4535] [KO:K03878]
(MTND5) ND5 [HSA:4540] [KO:K03883]
(MTND6) ND6 [HSA:4541] [KO:K03884]
(MTCYB) CYTB [HSA:4519] [KO:K00412]
H01348 ミトコンドリアリン酸輸送体欠損症 Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic ... 先天性代謝異常症, ミトコンドリア病 SLC25A3 [HSA:5250] [KO:K15102]
H01349 メタクリル酸尿症 Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated ... 先天性代謝異常症, ミトコンドリア病 HIBCH [HSA:26275] [KO:K05605]
H01350 Morganella morganii 感染 The genera Morganella are gram-negative anaerobic rods and important opportunistic pathogens, which cause a wide variety of nosocomial infections following surgery. Morganella morganii can cause bacteremia ... 細菌感染症
H01351 家族性痙性失調症 Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... 神経変性疾患 (SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
(SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
(SPAX9) CHP1 [HSA:11261] [KO:K17610]
(SPAX10) COQ4 [HSA:51117] [KO:K18586]
(SPAX11) TUBA4A [HSA:7277] [KO:K07374]
H01352 三頭酵素欠損症 Mitochondrial trifunctional protein (TFP) deficiency is a rare autosomal recessive disorder that is caused by mutations in HADHA and HADHB. TFP is a multienzyme complex of the fatty acid beta-oxidation ... 先天性代謝異常症, ミトコンドリア病 (MTPD1) HADHA [HSA:3030] [KO:K07515]
(MTPD2) HADHB [HSA:3032] [KO:K07509]
H01353 Chromobacterium violaceum 感染 Chromobacterium violaceum is a gram-negative, facultative anaerobic, opportunistic pathogenic bacterium that infects both humans and animals. The major symptoms in most of the cases with fatal results ... 細菌感染症
H01354 リー症候群 Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... 先天性代謝異常症, ミトコンドリア病 (LSFC) LRPPRC [HSA:10128] [KO:K17964]
(MILS) MTTV [HSA:4577] [KO:K14237]
(MILS) MTTK [HSA:4566] [KO:K14229]
(MILS) MTTW [HSA:4578] [KO:K14235]
(MILS) MTTL1 [HSA:4567] [KO:K14228]
(MILS) MTATP6 [HSA:4508] [KO:K02126]
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