KEGG MEDICUS 疾患情報 |
Top |
| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H01023 | 若年性ポリポーシス症候群 | Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline ... | 新生物 |
SMAD4 [HSA:4089] [KO:K04501] BMPR1A [HSA:657] [KO:K04673] |
|
| H01024 | 遺伝性混合ポリポーシス症候群 | Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS ... | 消化器系疾患 | BMPR1A [HSA:657] [KO:K04673] | |
| H01025 | 家族性大腸ポリポーシス | Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated ... | 新生物 |
(FAP1/DESMD) APC [HSA:324] [KO:K02085] (FAP2) MUTYH [HSA:4595] [KO:K03575] (FAP3) NTHL1 [HSA:4913] [KO:K10773] (FAP4) MSH3 [HSA:4437] [KO:K08736] |
|
| H01026 | 腎コロボーマ症候群 | Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box ... | 先天奇形 | PAX2 [HSA:5076] [KO:K15608] | |
| H01027 | 小眼球症 | Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... | 先天奇形 |
(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336] (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012] (MCOP5) MFRP [HSA:83552] [KO:K24359] (MCOP6) PRSS56 [HSA:646960] [KO:K23440] (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672] (MCOP8) ALDH1A3 [HSA:220] [KO:K07249] (MCOPCB5) SHH [HSA:6469] [KO:K11988] (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661] (MCOPCB8) STRA6 [HSA:64220] [KO:K23088] (MCOPCB9) TENM3 [HSA:55714] [KO:K24473] (MCOPCB10) RBP4 [HSA:5950] [KO:K18271] (MCOPCB11) FZD5 [HSA:7855] [KO:K02375] (MCOPCB12) PAX6 [HSA:5080] [KO:K08031] (MCOPCB13) NHEJ1 [HSA:79840] [KO:K10980] |
|
| H01028 |
アルギニノコハク酸尿症 アルギニノコハク酸分解酵素欠損症 |
Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, ... | 先天性代謝異常症 | ASL [HSA:435] [KO:K01755] | |
| H01029 | 先天性遺伝性扁平角膜 | Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus ... | 先天奇形 | (CNA2) KERA [HSA:11081] [KO:K08123] | |
| H01030 | 前角細胞疾患を伴う先天性関節拘縮症 | Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence ... | 先天奇形 | GLE1 [HSA:2733] [KO:K18723] | |
| H01031 |
起立耐性失調 起立性頻脈症候群 |
Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations ... | 循環器系疾患 | SLC6A2 [HSA:6530] [KO:K05035] | |
| H01032 |
N-アセチルグルタミン酸合成酵素欠損症 NAGS欠損症 |
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator ... | 先天性代謝異常症 | NAGS [HSA:162417] [KO:K11067] | |
| H01033 | 先天性両側精管欠損症 | The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic ... | 先天奇形 |
(CBAVD) CFTR [HSA:1080] [KO:K05031] (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451] |
|
| H01034 | L1 症候群 | L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia ... | 先天奇形 | L1CAM [HSA:3897] [KO:K06550] | |
| H01035 | 精神遅滞・眼欠損症・小顎症を伴う脳梁欠損症 | This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum ... | 先天奇形 | IGBP1 (5-prime region) [HSA:3476] [KO:K17606] | |
| H01036 | 網膜色素変性症を伴う後索型失調症 | Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported ... | 神経系疾患 | FLVCR1 [HSA:28982] [KO:K08220] | |
| H01037 | 膀胱尿管逆流 | Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent ... | 泌尿器系疾患 |
(VUR2) ROBO2 [HSA:6092] [KO:K06754] (VUR3) SOX17 [HSA:64321] [KO:K04495] (VUR8) TNXB [HSA:7148] [KO:K06252] |
|
| H01038 | Cayman型小脳性運動失調症 | Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported ... | 神経系疾患 | ATCAY [HSA:85300] [KO:K18450] | |
| H01039 | 卵巣過刺激症候群 | Ovarian hyperstimulation syndrome (OHSS) is typically an iatrogenic complication of ovulation induction (OI) occurring during the luteal phase or early pregnancy. OHSS is characterised by a cystic enlargement ... | 生殖器系疾患 | FSHR [HSA:2492] [KO:K04247] | |
| H01040 | Bamforth-Lazarus 症候群 | Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus ... | 内分泌代謝疾患 | FOXE1 [HSA:2304] [KO:K09398] | |
| H01041 | Aerococcus urinae 感染症 | Aerococcus urinae is a rare pathogen that belongs to a gram-positive coccus. Most infections are mild, but fatal infections such as endocarditis and septicemia/urosepsis have also been described. | 細菌感染症 | ||
| H01042 | ブルーリ潰瘍 | Buruli ulcer (BU) is a neglected emerging disease that has recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ... | 細菌感染症 | ||
| H01043 | オンコセルカ症 | Human onchocerciasis is an infection caused by the filarial nematode Onchocerca volvulus transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula ... | 寄生虫感染症 | ||
| H01044 | メジナ虫症 | Dracunculiasis, or guinea worm disease, is a parasitic disease caused by the nematode Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking ... | 寄生虫感染症 | ||
| H01045 | 住血吸虫症 | Schistosomiasis is a parasitic disease caused by trematode worms of the genus Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people ... | 寄生虫感染症 | ||
| H01046 | 鞭虫症 | Trichuriasis is a parasitic disease caused by the whipworm Trichuris trichiura, which is prevalent, particularly in tropical and subtropical areas. The infections occur by ingestion of embryonated eggs ... | 寄生虫感染症 | ||
| H01047 | 嚢虫症 | Taenia solium, the pork tapeworm, is endemic in many poorer countries of Latin America, Africa, and Asia, where pigs are raised. Human infection with T. solium occurs after ingestion of undercooked pork ... | 寄生虫感染症 | ||
| H01048 | 肝蛭症 | Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions ... | 寄生虫感染症 | ||
| H01049 | Gordonia bronchialis 感染 | Gordonia species are aerobic actinomycetes recently recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia ... | 細菌感染症 | ||
| H01050 | Tsukamurella 感染 | Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis ... | 細菌感染症 | ||
| H01051 | Corynebacterium ulcerans 感染症 | Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close ... | 細菌感染症 | ||
| H01052 | 伝染性軟属腫 | Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites ... | ウイルス感染症 |