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 |
|---|---|---|---|---|---|
| H01083 | Bordetella bronchiseptica 感染 | Bordetella bronchiseptica is a common pathogen among dogs and pigs, but has rarely been implicated in human infections. Human infections caused by B. bronchiseptica occur mostly in immunocompromised patients ... | 細菌感染症 | ||
| H01084 | Bordetella holmesii 感染 | Bordetella holmesii is a fastidious asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory ... | 細菌感染症 | ||
| H01085 | 裂頭条虫症 | Diphyllobothriasis is a parasitosis caused by the tapeworms of the genus Diphyllobothrium. It has been known as intestinal parasites of humans for a long time and has shown a reemergence in some countries ... | 寄生虫感染症 | ||
| H01086 | リンパ管フィラリア | Lymphatic filariasis is a mosquito-borne parasitic nematode infection in tropical and subtropical areas of Asia, Africa, the Western Pacific, and some parts of the Americas. Disease pathogenesis is linked ... | 寄生虫感染症 | ||
| H01087 | バランチジウム症 | Balantidiasis is a zoonotic disease caused by protozoan Balantidium coli, which is acquired by humans via the fecal-oral route from the natural reservoir, pigs. Humans may remain asymptomatic or may develop ... | 寄生虫感染症 | ||
| H01088 | 色素性傍静脈網脈絡膜萎縮 | Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation ... | 神経系疾患 | CRB1 [HSA:23418] [KO:K16681] | |
| H01089 | 二核アメーバ症 | Dientamoeba fragilis is a trichomonad protozoan that belongs to the Parabasalia group. It is found worldwide in the gastrointestinal tract of humans and implicated as a cause of diarrhea. | 寄生虫感染症 | ||
| H01090 | 回虫症 | Ascariasis is a commonly documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections ... | 寄生虫感染症 | ||
| H01091 | 蟯虫症 | Enterobiasis is one of the most widespread parasitic nematode infections caused by Enterobius vermicularis that commonly referred to as pinworm. This infection is usually associated with pruritis in the ... | 寄生虫感染症 | ||
| H01092 | 鉤虫症 | Human hookworm disease is a chronic intestinal nematode infection most commonly caused by Ancylostoma duodenale and Necator americanus, which are transmitted via skin contact with fecally contaminated ... | 寄生虫感染症 | ||
| H01093 |
肺吸虫症 肺吸虫感染症 |
Paragonimiasis (also known as lung fluke infection) is a food-borne parasitic disease caused by infection with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater ... | 寄生虫感染症 | ||
| H01094 | 好酸球ペルオキシダーゼ欠損 | Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix ... | 免疫系疾患 | EPX [HSA:8288] [KO:K10788] | |
| H01095 | 合指症 | Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized ... | 先天奇形 |
(SDTY2/5) HOXD13 [HSA:3239] [KO:K09298] (SDTY3) GJA1 [HSA:2697] [KO:K07372] (SDTY4) ZRS/LMBR1 [HSA:64327] [KO:K25217] (SDTY9/MSSD/CCSPD) BHLHA9 [HSA:727857] [KO:K24145] |
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| H01096 | ピルビン酸キナーゼ異常症 | Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ... | 先天性代謝異常症 | PKLR [HSA:5313] [KO:K12406] | |
| H01097 | 痙攣性四肢脳性麻痺 | Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural ... | 神経系疾患 |
(CPSQ1) HPDL [HSA:84842] [KO:K24788] (CPSQ2) KANK1 [HSA:23189] [KO:K22808] (CPSQ3) ADD3 [HSA:120] [KO:K18622] |
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| H01098 | 舌虫症 | Pentastomiasis is an unusual parasitic zoonosis caused by the larval stages of pentastomes (tongue worms), generally limited to the tropics and subtropical areas. Its definitive hosts are reptiles whilst ... | 寄生虫感染症 | ||
| H01099 | 旋毛虫症 | Trichinellosis or trichinosis is a foodborne disease caused by the parasitic nematode Trichinella and is widely distributed in the temperate, tropical, and arctic regions. Humans become infected after ... | 寄生虫感染症 | ||
| H01100 | 糞線虫症 | Strongyloidiasis is an intestinal parasite infection caused by soil-transmitted helminths of the genus Strongyloides. The disease occurs worldwide, but especially in tropical and subtropical regions. Most ... | 寄生虫感染症 | ||
| H01101 | 複合性リパーゼ欠損症 | Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in ... | 先天性代謝異常症 | LMF1 [HSA:64788] [KO:K23555] | |
| H01102 | 下垂体腺腫 | Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... | 新生物 |
(PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] (MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC) PRKAR1A [HSA:5573] [KO:K04739] RASD1 [HSA:51655] [KO:K07843] |
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| H01103 | α1-アンチトリプシン欠乏症 | Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is ... | 先天性代謝異常症 | SERPINA1 [HSA:5265] [KO:K03984] | |
| H01104 | ロア糸状虫症 | Loiasis is an infection with Loa loa, a filarial parasite found in central Africa transmitted by Chrysops fly bites. Loiasis is often asymptomatic. | 寄生虫感染症 | ||
| H01105 | 頭蓋-レンズ-縫合異形成 | Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by ... | 先天奇形 | SEC23A [HSA:10484] [KO:K14006] | |
| H01106 | プラスミノーゲン活性化因子インヒビター1欠損症 | Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system ... | 血液疾患 | PAI1 [HSA:5054] [KO:K03982] | |
| H01108 |
CD36 欠損症 血小板膜糖タンパク (GPIV) 欠損症 血小板型出血性疾患 10 (BDPLT10) |
Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases ... | 血液疾患; 先天性代謝異常症 | CD36 [HSA:948] [KO:K06259] | |
| H01109 | 慢性皮膚粘膜カンジダ症 | Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... | 免疫系疾患 |
(CANDF2) CARD9 [HSA:64170] [KO:K12794] (CANDF4) CLEC7A [HSA:64581] [KO:K10074] (CANDF5) IL17RA [HSA:23765] [KO:K05164] (CANDF6) IL17F [HSA:112744] [KO:K05494] (CANDF7) STAT1 [HSA:6772] [KO:K11220] (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124] (CANDF9) IL17RC [HSA:84818] [KO:K05166] |
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| H01110 | 気胸 | Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such ... | 呼吸器系疾患 | FLCN [HSA:201163] [KO:K09594] | |
| H01111 | コルチゾンレダクターゼ欠損 | Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between cortisone reductase deficiency (CRD) and polycystic ovary syndrome ... | 内分泌代謝疾患 |
(CORTRD1) H6PD [HSA:9563] [KO:K13937] (CORTRD2) HSD11B1 [HSA:3290] [KO:K15680] |
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| H01112 | PMSE 症候群 | Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 ... | 先天奇形 | STRADA [HSA:92335] [KO:K08271] | |
| H01113 | 酸性ホスファターゼ欠損症 | Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos ... | 先天性代謝異常症, ライソゾーム病 | ACP2 [HSA:53] [KO:K14410] |