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 |
|---|---|---|---|---|---|
| H01686 |
特発性門脈圧亢進症 非硬変症性門脈線維症 バンチ症候群 |
Idiopathic portal hypertension (IPH) is a disorder generally classified as a noncirrhotic portal hypertension of unknown etiology, and is clinically characterized by portal hypertension, splenomegaly, ... | 消化器系疾患 | ||
| H01687 | 肝外門脈閉塞症 | Extrahepatic portal vein obstruction (EHPVO) is a vascular disorder of liver characterized by obstruction and cavernomatous transformation of portal vein with or without the involvement of intrahepatic ... | 消化器系疾患 | ||
| H01688 | 急速進行性糸球体腎炎 | Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and ... | 泌尿器系疾患 | ||
| H01689 | フィッシャー症候群 | Fisher syndrome is a variant of the Guillain- Barre syndrome (GBS) and its classical clinical triad consists of ophthalmoplegia, ataxia, and areflexia. It is a relatively rare neurological disorder, accounting ... | 免疫系疾患; 神経系疾患 | ||
| H01690 | 硬化性萎縮性苔癬 | Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatitis affecting primarily vulvar, perianal and perineal skin. Extragenital lichen sclerosus is most common on the neck, shoulders, and ... | 免疫系疾患; 皮膚疾患 | ||
| H01691 | 腎血管筋脂肪腫 | Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome ... | 新生物 |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01692 | 上衣下巨細胞性星細胞腫 | Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative ... | 神経系疾患 |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01693 |
好酸球性筋膜炎 びまん性筋膜炎 |
Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied ... | 筋骨格疾患 | ||
| H01694 |
スティーブンス・ジョンソン症候群 中毒性表皮壊死症 ライエル症候群 重症多形滲出性紅斑 |
Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then ... | 免疫系疾患; 皮膚疾患 |
HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751] |
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| H01695 | 多型紅斑 | Erythema multiforme (EM) is an immune-mediated, mucocutaneous condition characterized by "target" lesions. Classically, EM has been separated into 2 subgroups, EM minor and EM major. In EM minor, lesions ... | 免疫系疾患; 皮膚疾患 | ||
| H01696 | 亜急性硬化性全脳炎 | Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal neurologic disorder of childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus ... | 神経変性疾患; ウイルス感染症 | ||
| H01697 | 抗リン脂質抗体症候群 | Antiphospholipid syndrome (APS) is characterized by a variety of clinical and immunological manifestations. The clinical hallmarks of this syndrome are thrombosisand poor obstetric outcomes in the presence ... | 血液疾患 | ||
| H01698 |
巨細胞性動脈炎 側頭動脈炎 |
Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age ... | 免疫系疾患 | ||
| H01699 | TSH 単独欠損症 | Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show ... | 内分泌代謝疾患 | TSHB [HSA:7252] [KO:K05251] | |
| H01700 | 下垂体前葉機能低下症 | Hypopituitarism is a chronic endocrine illness, and is the partial or complete insufficiency of anterior pituitary hormone secretion. Anterior pituitary is composed of five cell types that secrete growth ... | 内分泌代謝疾患 |
GHRH [HSA:2691] [KO:K05260] TRH receptor [HSA:7201] [KO:K04282] |
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| H01701 |
下垂体性 TSH 分泌亢進症 TSH不適切分泌症候群 (SITSH) |
Pituitary TSH hypersecretion is disease of the anterior portion of the pituitary resulting in hypersecretion of thyroid stimulating hormone (TSH). It includes two forms of central hyperthyroidism, i.e ... | 内分泌代謝疾患 | ||
| H01702 | グルココルチコイド抵抗症候群 | Glucocorticoid resistance (GCCR) is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence ... | 内分泌代謝疾患 | NR3C1 [HSA:2908] [KO:K05771] | |
| H01703 | 中枢性摂食異常症 (摂食障害) | Eating disorders, which include anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED), are disorders defined by disturbances in eating behavior. Anorexia nervosa (AN) is the oldest ... | 精神及び行動の障害 | ||
| H01704 | 突発性難聴 | Sudden sensorineural hearing loss (SSNHL) is defined as a loss of hearing of 30 dB or more over at least three contiguous frequencies. Usually, symptoms present unilaterally and suddenly within 24-72 h ... | 神経系疾患 | ||
| H01705 |
若年発症型両側性感音難聴 突発性両側性感音難聴 |
Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be ... | 神経系疾患 |
ACTG1 [HSA:71] [KO:K05692] CDH23 [HSA:64072] [KO:K06813] COCH [HSA:1690] [KO:K23574] KCNQ4 [HSA:9132] [KO:K04929] TECTA [HSA:7007] [KO:K18273] TMPRSS3 [HSA:64699] [KO:K09634] WFS1 [HSA:7466] [KO:K14020] EYA4 [HSA:2070] [KO:K17622] MYO6 [HSA:4646] [KO:K10358] MYO15A [HSA:51168] [KO:K10361] POU4F3 [HSA:5459] [KO:K09366] |
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| H01706 | 遅発性内リンパ水腫 | Delayed endolymphatic hydrops (DEH) is a disorder, characterized by episodic vertigo that develops some time after the onset of a profound, typically unilateral sensorineural hearing loss. DEH can be differentiated ... | 神経系疾患 | ||
| H01707 | 黄色靭帯骨化症 | Ossified ligamentum flavum (OLF) is a condition of heterotopic lamellar bone formation within the yellow ligament. OLF is a widely described pathology in eastern Asia and rare in other parts of the world ... | 筋骨格疾患 | ||
| H01708 |
広汎性特発性骨増殖症 フォレスティエ病 強直性脊椎骨増殖症 前縦靭帯骨化症 |
Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and ... | 筋骨格疾患 | ||
| H01709 | 特発性ステロイド性骨壊死症 | Glucocorticoid-induced osteonecrosis is a common and severe adverse event. Glucocorticoid use is one of the most important causes of osteonecrosis. In patients receiving long-term therapy, glucocorticoids ... | 筋骨格疾患 | ||
| H01710 | 混合性結合組織病 | Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated ... | 免疫系疾患 | ||
| H01711 | 脊柱管狭窄 | Spinal stenosis is an abnormal narrowing of the spinal canal that mainly occurs in the cervical and lumbar regions. Cervical stenosis presents with axial neck pain, radiculopathy, myelopathy, or a combination ... | 筋骨格疾患 | ||
| H01712 | 劇症肝炎 | Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ... | 消化器系疾患 | ||
| H01713 | びまん性汎細気管支炎 | Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and ... | 呼吸器系疾患 | ||
| H01714 | 慢性閉塞性肺疾患 (COPD) | Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation ... | 呼吸器系疾患 |
SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388] |
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| H01715 | 肥満低換気症候群 | Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity (BMI of 30 or higher), daytime hypoventilation, and sleep-disordered breathing in the absence of any other cause of hypoventilation ... | 呼吸器系疾患 |