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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01565 |
Wernicke encephalopathy Wernicke-Korsakoff syndrome |
... complication like central pontine myelinolysis. When Wernicke encephalopathy is suspected, treatment with high-dose parenteral thiamine (vitamin B1) should be given. If it is not treated promptly or if treatment ... | Endocrine and metabolic disease | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01566 | Beriberi | ... peripheral neuropathy and acute encephalopathy, and wet beriberi with cardiovascular involvement including high cardiac output heart failure. Rarely, a fulminant or pernicious variant, termed Shoshin beriberi ... | Endocrine and metabolic disease | ||
| H01567 |
Thiamine pyrophosphokinase deficiency Thiamine metabolism dysfunction syndrome 5 |
... pyrophosphokinase (TPK) deficiency is a recently described rare disorder that has episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism ... | Inherited metabolic disorder | TPK1 [HSA:27010] [KO:K00949] | |
| H01568 |
3C syndrome Ritscher-Schinzel syndrome Craniocerebellocardiac dysplasia |
... manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis, and other valvular anomalies ... | Congenital malformation |
(RTSC1) WASHC5 [HSA:9897] [KO:K18464] (RTSC2) CCDC22 [HSA:28952] [KO:K23343] (RTSC3) VPS35L [HSA:57020] [KO:K25731] (RTSC4) DPYSL5 [HSA:56896] [KO:K07529] |
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| H01577 | Essential tremor | ... (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic ... | Nervous system disease |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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| H01581 |
IgA nephropathy Berger disease |
... nephropathy can be considered an autoimmune disease. Since the features of IgA nephropathy identified by light microscopy are nonspecific, immunofluorescence or immunoperoxidase studies demonstrating a predominant ... | Immune system disease; Urinary system disease | ||
| H01589 | Systemic primary carnitine deficiency | ... the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter 2 (OCTN2). The hallmark ... | Inherited metabolic disorder | (CDSP) SLC22A5 [HSA:6584] [KO:K08202] | |
| H01594 | Myasthenia gravis | ... thymoma, MUSK, LRP4, antibody-negative, and ocular forms of myasthenia gravis. Agrin-associated MG might emerge as a new entity. The prognosis is good with optimum symptomatic, immunosuppressive, and supportive ... | Immune system disease; Nervous system disease | ||
| H01596 | Lambert-Eaton myasthenic syndrome | ... suffer from characteristic muscle weakness and autonomic symptoms. The underlying cause of LEMS in slightly more than half of all patients is small cell lung carcinoma (SCLC) [DS:H00013]. The nerve terminal ... | Immune system disease; Nervous system disease | ||
| H01597 |
Restless legs syndrome Willis Ekbom disease |
... accompanied by an urge to move them (akathisia). These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. The prevalence of RLS increases ... | Nervous system disease | ||
| H01602 | Gastroesophageal reflux disease | ... and extraesophageal symptoms. Typical symptoms include heartburn and acid regurgitation which have high specificity but low sensitivity for GERD. Atypical symptoms such as epigastric pain, dyspepsia, nausea ... | Digestive system disease | ||
| H01604 | Polymyositis and dermatomyositis | ... to immunosuppressive medication, they are believed to be autoimmune in origin. Recent studies have highlighted the importance of the innate immune system and non-immune mechanisms and described novel adaptive ... | Musculoskeletal disease | ||
| H01606 | Polymyalgia rheumatica | ... and anorexia, but these are often milder than systemic symptoms in GCA patients. PMR is a benign and highly steroid-sensitive disease that should resolve fully with low-dose glucocorticoid therapy for 12-24 ... | Musculoskeletal disease | ||
| H01611 | Alcohol dependence | ... rapidly decreases or stops drinking. The contribution of genetic factors to the development of AD is high. The best classical candidate genes for AD are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase ... | Mental and behavioural disorder | hsa05034 Alcoholism |
ALDH2 [HSA:217] [KO:K00128] ADH1B [HSA:125] [KO:K13951] ADH1C [HSA:126] [KO:K13951] HTR2A [HSA:3356] [KO:K04157] GABRA2 [HSA:2555] [KO:K05175] TAS2R16 [HSA:50833] [KO:K08474] |
| H01613 | Follicular lymphoma | Follicular lymphoma (FL) is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement ... | Cancer |
IgH-BCL2 (translocation) [HSA:596] [KO:K02161] EZH2 (mutation) [HSA:2146] [KO:K11430] MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187] CREBBP (mutation) [HSA:1387] [KO:K04498] MEF2B (mutation) [HSA:4207] [KO:K09261] EP300 (mutation) [HSA:2033] [KO:K04498] |
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| H01615 | Irritable bowel syndrome | ... (IBS-D), mixed IBS (IBS-M), and un-subtyped IBS. Anticholinergic drugs, 5-HT3 receptor antagonist, high molecular weight polymers (polycarbophil calcium), gastrointestinal motility regulators, probiotics ... | Digestive system disease | GUCY2C [HSA:2984] [KO:K12320] | |
| H01618 | Pituitary gigantism | ... in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement ... | Endocrine and metabolic disease | GPR101 (duplication) [HSA:83550] [KO:K08423] | |
| H01619 | Primary pulmonary hypertension | ... progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and ... | Cardiovascular disease |
(PPH1) BMPR2 [HSA:659] [KO:K04671] (PPH2) SMAD9 [HSA:4093] [KO:K16791] (PPH3) CAV1 [HSA:857] [KO:K06278] (PPH4) KCNK3 [HSA:3777] [KO:K04914] |
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| H01621 | Pulmonary arterial hypertension | ... increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable ... | Cardiovascular disease |
(PPH1) BMPR2 [HSA:659] [KO:K04671] (PPH2) SMAD9 [HSA:4093] [KO:K16791] (PPH3) CAV1 [HSA:857] [KO:K06278] (PPH4) KCNK3 [HSA:3777] [KO:K04914] (PPH5) ATP13A3 [HSA:79572] [KO:K14951] (PPH6) CAPNS1 [HSA:826] [KO:K08583] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196] |
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| H01629 | Chronic arterial occlusive disease | Chronic arterial occlusive disease is a highly prevalent peripheral vascular disorder. This disease is caused by arteriosclerosis obliterans (ASO), thromboangiitis obliterans (Buerger's disease), primary ... | Cardiovascular disease | ||
| H01633 |
High blood pressure Hypertension |
High blood pressure (hypertension) is the most frequent classic cardiovascular risk factor and accounts for a large proportion of cardiovascular mortality, the main cause of death worldwide. Hypertension ... | Cardiovascular disease |
(EHT) PTGIS [HSA:5740] [KO:K01831] (EHT) AGTR1 [HSA:185] [KO:K04166] (EHT) ADD1 [HSA:118] [KO:K18622] (EHT) AGT [HSA:183] [KO:K09821] (EHT) ECE1 [HSA:1889] [KO:K01415] (EHT) CYP3A5 [HSA:1577] [KO:K17690] (EHT) NOS3 [HSA:4846] [KO:K13242] (EHT) GNB3 [HSA:2784] [KO:K07825] NR3C2 [HSA:4306] [KO:K08555] (GRA) CYP11B2 [HSA:1585] [KO:K07433] (GRA) CYP11B1 [HSA:1584] [KO:K00497] (AME) HSD11B2 [HSA:3291] [KO:K00071] (LIDLS) SCNN1B [HSA:6338] [KO:K04825] (LIDLS) SCNN1G [HSA:6340] [KO:K04827] (LIDLS) SCNN1A [HSA:6337] [KO:K04824] |
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| H01634 | Peptic ulcer | ... proximal duodenum. Typical symptoms include episodic burning epigastric pain, loss of appetite, and weight loss. Pain usually occurs two to five hours after meals or on an empty stomach. The most common ... | Digestive system disease | ||
| H01640 |
Uterine leiomyoma Fibroid |
... often multiple uterine tumor composed of smooth muscle and connective tissue. The findings derived from high-throughput sequencing combined with previous knowledge have led to an emerging molecular classification ... | Reproductive system disease |
HMGA2 (rearrangement) [HSA:8091] [KO:K09283] MED12 (mutation) [HSA:9968] [KO:K15162] COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237] Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679] |
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| H01641 |
Dry eye disease Keratoconjunctivitis sicca |
... disease with corticosteroids or cyclosporine A eye drops has been documented in clinical trials on a high evidence level. Orally administered tetracycline derivatives and omega-3 or omega-6 fatty acids are ... | Nervous system disease | ||
| H01645 |
Hyperthyroidism Thyrotoxicosis |
... concentrations. Patients of hyperthyroidism/thyrotoxicosis usually have fatigue, nervousness or anxiety, weight loss, palpitations, and heat sensitivity. Clinical findings almost always include tachycardia, warm ... | Endocrine and metabolic disease | ||
| H01646 | Major depressive disorder | ... disorder mainly characterized by depressed mood, loss of interest, feelings of worthlessness, and a high risk of suicide. Accumulated evidence suggests that both environmental and genetic factors are involved ... | Mental and behavioural disorder |
TPH2 [HSA:121278] [KO:K00502] HTR2A [HSA:3356] [KO:K04157] FKBP5 [HSA:2289] [KO:K09571] |
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| H01648 | Pemphigus | ... eroded areas and promote epithelialization. Other concomitant therapy can include the use of immunosuppressants, plasma exchange, and the administration of high-dose intravenous immunoglobulin (IVIG). | Immune system disease; Skin disease | ||
| H01650 | Pemphigoid | ... antibodies, and treatments that increase the elimination of pathogenic antibodies from the serum of patients, such as high-dose intravenous immunoglobulin (IVIG) therapy and therapeutic plasma exchange. | Immune system disease; Skin disease | ||
| H01660 | Pityriasis rosea | ... (seasonal variation and clustering in communities) and clinical features suggest an infective agent. Light and electron microscopy findings suggest infection with human herpesviruses 6 and 7 (HHV-6/7). HHV-6 ... | Skin disease | ||
| H01664 | Panic disorder | ... unclear. In recent years, an association was found between panic symptoms and increased activity in the right frontal region of the brain. Genetic susceptibility factors also exist, but their exact nature and ... | Mental and behavioural disorder | ||
| H01665 | Primary peritoneal carcinoma | ... reported. Germline BRCA1 mutations in 26% of PPSPC patients was detected. BRCA1 mutation carriers had a higher overall incidence of p53 mutations than wildtype BRCA1 case subjects. It is suggested that p53 ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
| H01667 | Medulloblastoma | ... missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic ... | Cancer |
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] 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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| H01680 | Chronic pancreatitis | ... necro-inflammation, leading to pancreatic atrophy and dysfunction. It manifests clinically as maldigestion, weight loss, abdominal pain and eventually diabetes. Six major etiologies for chronic pancreatitis have ... | Digestive system disease | ||
| H01684 | Primary sclerosing cholangitis | ... most often ulcerative colitis (UC). The clinical presentation is variable. Typical symptoms include right upper quadrant abdominal discomfort, fatigue, pruritus, and weight loss. The most frequent abnormal ... | Digestive system disease | ||
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
... that follows portal thrombosis. The incidence varies considerably with the country. In contrast to its high prevalence in India, IPH is comparatively a rare disorder in Western countries. Middle-aged women ... | Digestive system disease | ||
| H01688 | Rapidly progressive glomerulonephritis | ... leukocytaphereis (LCAP) and intravenous immunoglobulin (IVIg), have become available and these treatments have made it possible to treat high-risk RPGN patients without inducing serious immunosuppressive states. | Urinary system disease | ||
| H01694 |
Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome |
... result of these changes. The rates of severe complications or sequelae secondary to SJS and TEN are higher in patients with mucosal and ophthalmic involvement. The SJS and TEN are considered the same disease ... | Immune system disease; Skin disease |
HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751] |
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| H01695 | Erythema multiforme | ... separated into 2 subgroups, EM minor and EM major. In EM minor, lesions often present as papules, which might enlarge and eventually form the typical target lesion with erythema surrounding an area of central ... | Immune system disease; Skin disease | ||
| H01698 |
Giant cell arteritis Temporal arteritis |
... in women. It is frequently associated with polymyalgia rheumatica. Laboratory tests usually reveal high erythrocyte sedimentation rate (ESR), elevated levels of C-reactive protein (CRP) and other acute ... | Immune system disease | ||
| H01703 | Eating Disorders | ... relentless pursuit of thinness, accompanied by a fear of becoming fat despite being markedly underweight. In women, anorexia nervosa is associated with global endocrine dysregulation, including hypothalamic-pituitary ... | Mental and behavioural disorder |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |