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 |
|---|---|---|---|---|---|
| H01656 |
乾癬 尋常性乾癬 関節症性乾癬 |
Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are ... | 免疫系疾患; 皮膚疾患 |
(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395] |
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| H01657 | ネフローゼ症候群 | Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome ... | 泌尿器系疾患 |
(NPHS1) NPHS1 [HSA:4868] [KO:K24496] (NPHS2) NPHS2 [HSA:7827] [KO:K18268] (NPHS3) PLCE1 [HSA:51196] [KO:K05860] (NPHS4) WT1 [HSA:7490] [KO:K09234] (NPHS5) LAMB2 [HSA:3913] [KO:K06243] (NPHS6) PTPRO [HSA:5800] [KO:K18035] (NPHS7) DGKE [HSA:8526] [KO:K00901] (NPHS8) ARHGDIA [HSA:396] [KO:K12462] (NPHS9) COQ8B [HSA:79934] [KO:K08869] (NPHS10) EMP2 [HSA:2013] [KO:K26256] (NPHS11) NUP107 [HSA:57122] [KO:K14301] (NPHS12) NUP93 [HSA:9688] [KO:K14309] (NPHS13) NUP205 [HSA:23165] [KO:K14310] (NPHS14) SGPL1 [HSA:8879] [KO:K01634] (NPHS15) MAGI2 [HSA:9863] [KO:K05629] (NPHS16) KANK2 [HSA:25959] [KO:K22808] (NPHS17) NUP85 [HSA:79902] [KO:K14304] (NPHS18) NUP133 [HSA:55746] [KO:K14300] (NPHS19) NUP160 [HSA:23279] [KO:K14303] (NPHS20) TBC1D8B [HSA:54885] [KO:K19951] (NPHS21/25) AVIL [HSA:10677] [KO:K08017] (NPHS22) NOS1AP [HSA:9722] [KO:K16513] (NPHS23) KIRREL1 [HSA:55243] [KO:K25874] (NPHS24) DAAM2 [HSA:23500] [KO:K04512] (NPHS26) LAMA5 [HSA:3911] [KO:K06240] |
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| H01658 | 顕微鏡的多発血管炎 | Microscopic polyangiitis (MPA) is an idiopathic autoimmune disease characterized by systemic vasculitis. MPA predominantly affects small-calibre blood vessels and is associated with the presence of antineutrophil ... | 免疫系疾患 | ||
| H01659 | 毛孔性紅色粃糠疹 | Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic ... | 免疫系疾患; 皮膚疾患 | CARD14 [HSA:79092] [KO:K20913] | |
| H01660 |
ジベルばら色粃糠疹 バラ色粃糠疹 |
Pityriasis rosea (PR) is an acute exanthem, which prevalently affects children and young adults. The cause of PR is uncertain but epidemiological (seasonal variation and clustering in communities) and ... | 皮膚疾患 | ||
| H01661 | 黄色腫 | Xanthomas are benign and usually yellow plaques, papules, or nodules that develop in the cutis and subcutaneous tissue. They evolve as clusters of foam cells and favor the neck, upper trunk, flexural folds ... | 皮膚疾患; 先天性代謝異常症 | ||
| H01662 |
全般性不安障害 不安神経症 |
Generalized anxiety disorder is a persistent and common mental disorder. This disorder is twice as common in women than it is in men. The symptoms include generalised and persistent excessive anxiety and ... | 精神及び行動の障害 | ||
| H01663 | 膿疱性乾癬 | Pustular psoriasis is a form of psoriasis [DS:H01656] characterized by multiple tender sterile pustules with an underlying, blotchy, erythematous base. It has been classified into localized and generalized ... | 免疫系疾患; 皮膚疾患 | ||
| H01664 | パニック障害 | Panic disorder (PD) is a common type of anxiety disorder, characterized by unexpected and repeated panic attacks or fear of future panic attacks. It has a rapid onset and includes symptoms such as palpitations ... | 精神及び行動の障害 | ||
| H01665 | 原発性腹膜癌 | Female primary peritoneal carcinoma (PPC) has the characteristic of diffuse involvement of the peritoneum by papillary carcinoma in the absence of an obvious primary site and grossly normal ovaries, or ... | がん | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
| H01666 | 血管肉腫 | Angiosarcomas are rare, generally aggressive, malignant mesenchymal tumours of vascular origin and constitute less than 1% of all sarcomas. Their most frequent site of origin is the head and neck, especially ... | がん |
KRAS (mutation) [HSA:3845] [KO:K07827] HRAS (mutation) [HSA:3265] [KO:K02833] NRAS (mutation) [HSA:4893] [KO:K07828] |
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| H01667 | 髄芽腫 | Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... | がん |
PTCH1 [HSA:5727] [KO:K06225] PTCH2 [HSA:8643] [KO:K11101] ELP1 [HSA:8518] [KO:K11373] SUFU [HSA:51684] [KO:K06229] SMO [HSA:6608] [KO:K06226] AXIN1 [HSA:8312] [KO:K02157] AXIN2 [HSA:8313] [KO:K04385] APC [HSA:324 10297] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] NF2 [HSA:4771] [KO:K16684] MEN1 [HSA:4221] [KO:K14970] KDM6A [HSA:7403] [KO:K11447] BRCA2 [HSA:675] [KO:K08775] GPR161 [HSA:23432] [KO:K08439] MYC (amplification) [HSA:4609] [KO:K04377] OTX2 (amplification) [HSA:5015] [KO:K18490] TERT (amplification) [HSA:7015] [KO:K11126] MDM2 (amplification) [HSA:4193] [KO:K06643] |
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| H01668 | 腫瘍性髄膜炎 | Neoplastic meningitis (NM) is a diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological ... | 神経系疾患 | ||
| H01669 |
二次性副甲状腺機能亢進症 続発性副甲状腺機能亢進症 |
Secondary hyperparathyroidism (SHPT) is a chronic and progressive disorder characterized by elevated serum parathyroid hormone (PTH), parathyroid gland hyperplasia, and disturbances in mineral metabolism ... | 内分泌代謝疾患 | ||
| H01670 | 社会不安障害 | Social anxiety disorder (SAD) is the most common anxiety disorder. SAD is generally considered a chronic disorder and has its onset during early adolescence. It is a risk factor for subsequent depressive ... | 精神及び行動の障害 | ||
| H01671 |
神経症 ノイローゼ |
Neurosis is a class of functional mental disorders involving distress but neither delusions nor hallucinations, whereby behavior is not outside socially acceptable norms. The state of research on neurosis ... | 精神及び行動の障害 | ||
| H01672 | 若年性特発性関節炎 | Juvenile idiopathic arthritis (JIA) is one of the most common childhood rheumatic diseases. Clinically, it is defined as arthritis of unknown origin that starts before the age of 16, and persists for at ... | 免疫系疾患 |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
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| H01673 | 掌蹠角化症 | Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist ... | 先天奇形 | ||
| H01674 |
強直性脊椎炎 ベヒテレフ病 |
Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of ... | 筋骨格疾患 | HLA-B [HSA:3106] [KO:K06751] | |
| H01675 | 脊髄空洞症 | Syringomyelia is a spinal disorder characterized by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia ... | 先天奇形 | ||
| H01676 | 正常圧水頭症 | Normal pressure hydrocephalus (NPH) is a progressive brain disease characterized by gait impairment, urinary incontinence, and dementia, and by ventricular enlargement in the absence of elevated intracranial ... | 神経系疾患 | ||
| H01677 | 先天性水頭症 | Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder ... | 先天奇形 |
(HYC1) CCDC88C [HSA:440193] [KO:K25811] (HYC2) MPDZ [HSA:8777] [KO:K06095] (HYC3) WDR81 [HSA:124997] [KO:K17601] (HYC4/HYDCC1) TRIM71 [HSA:131405] [KO:K12035] (HYC5) SMARCC1 [HSA:6599] [KO:K11649] (HYDNP1) CFAP43 [HSA:80217] [KO:K24223] |
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| H01678 | ダンディ・ウォーカー症候群 | Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced ... | 先天奇形 |
ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
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| H01679 | 肝内結石症 | Intrahepatic lithiasis is very common disease in East Asia, characterized by the recurrent pyogenic cholangitis. The main clinical symptoms are abdominal pain, fever and jaundice. Pathologically, the intrahepatic ... | 消化器系疾患 | ||
| H01680 | 慢性膵炎 | Chronic pancreatitis is a progressive inflammatory disease of the pancreas that will finally result in both exocrine and endocrine insufficiency. Chronic pancreatitis develops gradually and worsens over ... | 消化器系疾患 | ||
| H01681 | 急性膵炎 | Acute pancreatitis ranges from a mild, self- limiting disease to a life-threatening condition with multiple organ failure. Abdominal pain is the predominant symptom. Nausea and vomiting may accompany the ... | 消化器系疾患 | ||
| H01682 | 抗利尿ホルモン不適合分泌症候群 (SIADH) | The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an endocrine disease, characterized by inappropriately concentrated urine, dilutional hyponatremia, and subsequent manifestations ... | 内分泌代謝疾患 | AVPR2 [HSA:554] [KO:K04228] | |
| H01683 | ADH 分泌異常症 | Water imbalance is common among the critically ill. The excessive increases or decreases in body water can be lethal. There are numerous pathologic and iatrogenic causes for water imbalance, the most troublesome ... | 内分泌代謝疾患 | AVPR2 [HSA:554] [KO:K04228] | |
| H01684 | 原発性硬化性胆管炎 | Primary sclerosing cholangitis (PSC) is a rare progressive disease of the liver characterized by cholestasis and bile duct fibrosis, leading to decreased quality of life, cirrhosis, and the need for liver ... | 消化器系疾患 | ||
| H01685 | 自己免疫性肝炎 | Autoimmune hepatitis (AIH) is a chronic inflammatory liver disorder with an etiology that remains unclear. The pathogenesis may be a result of alterations in immune tolerance, a genetic predisposition ... | 消化器系疾患 |