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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01241 | Congenital diaphragmatic hernia | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... | Congenital malformation |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] |
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| H01249 | Ethylmalonic encephalopathy | ... caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life. | Inherited metabolic disorder | ETHE1 [HSA:23474] [KO:K17725] | |
| H01264 | Hepatic venoocclusive disease with immunodeficiency | Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear ... | Immune system disease | SP110 [HSA:3431] [KO:K24503] | |
| H01298 | Pulmonary alveolar microlithiasis | ... characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported ... | Respiratory system disease | SLC34A2 [HSA:10568] [KO:K14683] | |
| H01309 | Sarcoidosis, early-onset | Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct ... | Immune system disease | NOD2 [HSA:64127] [KO:K10165] | |
| H01333 | Non-alcoholic fatty liver disease | ... type 2 diabetes mellitus. The spectrum of NAFLD ranges from simple steatosis to steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepatitis (NASH). Of those with NASH, approximately ... | Digestive system disease | hsa04932 Non-alcoholic fatty liver disease | |
| H01339 | Asymptomatic bacteriuria | The term asymptomatic bacteriuria is generally used to distinguish colonization from infection and to emphasize that the presence of bacteria at mucosal surfaces does not always cause symptoms and tissue ... | Bacterial infectious disease | ||
| H01352 | Mitochondrial trifunctional protein deficiency | ... disease includes a lethal neonatal phenotype with cardiomyopathy and Reye-like syndrome, an infantile hepatic phenotype with recurrent hypoketotic hypoglycemia, and a childhood or adolescent-onset neuromyopathic ... | Inherited metabolic disorder, Mitochondrial disease |
(MTPD1) HADHA [HSA:3030] [KO:K07515] (MTPD2) HADHB [HSA:3032] [KO:K07509] |
|
| H01375 | Glucose 6-phosphate dehydrogenase deficiency | ... associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency ... | Inherited metabolic disorder | G6PD [HSA:2539] [KO:K00036] | |
| H01400 | Secondary hyperammonemia | ... a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this ... | Inherited metabolic disorder |
MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915] |
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| H01424 |
Group A streptococcal pharyngitis Group A streptococcal tonsillitis Group A streptococcal pharyngotonsillitis |
... 3-5 days, and throat pain resolves within 1 week, even without specific treatment. Antibiotic treatment reduces the risk of subsequent development of acute rheumatic fever and suppurative complications. | Bacterial infectious disease | ||
| H01425 | Lysosomal storage disease | ... born apparently healthy and the symptoms develop progressively. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic ... | Inherited metabolic disorder | ||
| H01431 | Cushing syndrome | ... sporadic, resulting from monoclonal expansion of a single mutated cell. Recently recurrent activating somatic driver mutations in the ubiquitin-specific protease 8 gene (USP8) were identified in almost half ... | Endocrine and metabolic disease | hsa04934 Cushing syndrome |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC1) PRKAR1A [HSA:5573] [KO:K04739] (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] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] (PPNAD4) PRKACA [HSA:5566] [KO:K04345] RASD1 [HSA:51655] [KO:K07843] |
| H01433 | Budd-Chiari syndrome | Budd-Chiari syndrome (BDCHS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized ... | Digestive system disease |
F5 [HSA:2153] [KO:K03902] JAK2 [HSA:3717] [KO:K04447] |
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| H01451 | Actinomycetoma | ... strong geographic variation. The primary niche of these microorganisms is suggested to be the soil. The infection is thought to start subcutaneously after traumatic inoculation of these microorganisms. | Bacterial infectious disease | ||
| H01454 | Colonic spirochetosis | ... persistent intimate mucosal epithelial cell attachment of spirochetes alone or together with certain enterohepatic Helicobacter species. Symptoms in humans include diarrhea, rectal bleeding, and abdominal cramps | Bacterial infectious disease | ||
| H01457 | Diabetic retinopathy | ... is divided into two stages: in the early stages, also called as nonproliferative stage, it is asymptomatic because the signs are not visible to the eye. however, some defects including microaneurysms, intraretinal ... | Endocrine and metabolic disease; Nervous system disease |
VEGFA [HSA:7422] [KO:K05448] EPO [HSA:2056] [KO:K05437] ACE [HSA:1636] [KO:K01283] PON1 [HSA:5444] [KO:K01045] |
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| H01465 | Large-vessel vasculitis | ... vasculitis that affects younger individuals mainly under 40 years. Clinical presentations vary from asymptomatic to significant systemic symptoms such as fever, weight loss, and symptoms that result from aortitis ... | Immune system disease | ||
| H01467 |
Primary biliary cholangitis Primary biliary cirrhosis |
... biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is a chronic, progressive cholestatic liver disease characterised by destruction of small intrahepatic bile ducts, eventually leading ... | Digestive system disease | ||
| H01471 | Lymphangioma | Lymphangiomas are congenital malformations of the lymphatic system, which is located mostly on the head and neck region. The lesions consist of dilated endothelium-lined spaces that vary in size from microscopic ... | Neoplasm | VEGFR-3 (overexpression) [HSA:2324] [KO:K05097] | |
| H01474 |
Acquired generalized lipodystrophy Lawrence syndrome |
... Similarly to congenitial generalized lipodystrophy, people with the disorder usually appear severe hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Metreleptin, as a recombinant analog ... | Inherited metabolic disorder | ||
| H01475 |
Lipodystrophy Lipoatrophy |
... insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries, and acanthosis nigricans. Genetic predisposition to inherited lipodystrophies ... | Inherited metabolic disorder | ||
| H01483 | Acromegaly | ... familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are ... | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
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| H01495 | Meniere disease | ... hearing loss, tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral ... | Nervous system disease | ||
| H01506 |
Hepatic encephalopathy Hepatic coma |
Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations ... | Nervous system disease; Digestive system disease | ||
| H01507 | Seronegative arthritis | ... ankylosing spondylitis (AS), reactive arthritis (ReA), enteropathic (IBD) associated arthritis, psoriatic arthritis (PsA), as well as undifferentiated, and juvenile SpA. The main clinical manifestations ... | Immune system disease | HLA-B [HSA:3106] [KO:K06751] | |
| H01516 |
Adult onset Still disease Adult Still disease |
... Treatment consists of anti-inflammatory medications. Non-steroidal anti-inflammatory drugs have limited efficacy, and corticosteroid therapy and disease-modifying anti-rheumatic drugs are usually required. | Immune system disease | ||
| H01520 |
Chromomycosis Chromoblastomycosis |
... is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous fungi usually found in tropical and subtropical ... | Fungal infectious disease | ||
| H01556 | Meningioma | ... Recently, novel mutations have been discovered in non-NF2 meningiomas. The recent identification of somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential ... | Cancer |
NF2 [HSA:4771] [KO:K16684] SMARCB1 [HSA:6598] [KO:K11648] SMARCE1 [HSA:6605] [KO:K11651] SUFU [HSA:51684] [KO:K06229] PTEN [HSA:5728] [KO:K01110] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] TRAF7 [HSA:84231] [KO:K10646] AKT1 [HSA:207] [KO:K04456] KLF4 [HSA:9314] [KO:K17846] SMO [HSA:6608] [KO:K06226] MN1 [HSA:4330] [KO:K22543] PDGFB [HSA:5155] [KO:K17386] |
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| H01557 | Hepatic angiosarcoma | ... organs, including the retroperitoneum, skeletal muscle, subcutis, liver, heart and breast. Primary hepatic angiosarcomas (HAS) are much rare tumors, with worse prognosis compared with other angiosarcomas ... | Cancer |
TP53 (mutation) [HSA:7157] [KO:K04451] KRAS-2 (mutation) [HSA:3845] [KO:K07827] |
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| H01563 | HIV infection | ... mortality associated with HIV infection and progression to AIDS. Combination antiretroviral therapy dramatically suppresses HIV replication and reduces the plasma HIV-1 viral load, resulting in significant ... | Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
CCR5 (resistance) [HSA:1234] [KO:K04180] CCR2 (resistance) [HSA:729230] [KO:K04177] TLR3 (resistance) [HSA:7098] [KO:K05401] CXCL12 (resistance) [HSA:6387] [KO:K10031] CCL2 (resistance) [HSA:6347] [KO:K14624] CCL3 (resistance) [HSA:6348] [KO:K05408] CCL11 (resistance) [HSA:6356] [KO:K16597] IL10 (susceptibility) [HSA:3586] [KO:K05443] CD209 (susceptibility) [HSA:30835] [KO:K06563] HLA-C (susceptibility) [HSA:3107] [KO:K06751] CCL3L1 (susceptibility) [HSA:6349] [KO:K05408] IFNG (rapid progression) [HSA:3458] [KO:K04687] CX3CR1 (rapid progression) [HSA:1524] [KO:K04192] CXCR1 (slow progression) [HSA:3577] [KO:K04175] IL4R (slow progression) [HSA:3566] [KO:K05071] CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499] KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980] |
| H01578 | Subacute myelo-optico-neuropathy (SMON) | ... 000 by 1970. After the governmental ban on the use of clioquinol in September 1970, there was a dramatic disappearance of new case of SMON. However, in Japan, there are still more than 2500 SMON patients ... | Neurodegenerative disease | ||
| H01589 | Systemic primary carnitine deficiency | ... accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated into ... | Inherited metabolic disorder | (CDSP) SLC22A5 [HSA:6584] [KO:K08202] | |
| H01592 | Medullary thyroid cancer | ... of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead ... | Cancer |
RET [HSA:5979] [KO:K05126] HRAS [HSA:3265] [KO:K02833] KRAS [HSA:3845] [KO:K07827] |
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| H01594 | Myasthenia gravis | ... gravis. Agrin-associated MG might emerge as a new entity. The prognosis is good with optimum symptomatic, immunosuppressive, and supportive treatment. The evolution of MG is unpredictable, but it is generally ... | Immune system disease; Nervous system disease | ||
| H01596 | Lambert-Eaton myasthenic syndrome | ... affecting proximal muscle groups, autonomic dysfunctions, and areflexia. Besides oncological treatment in case of SCLC-LEMS, treatment is based on symptomatic and semi-specific immunosuppressive therapy. | Immune system disease; Nervous system disease | ||
| H01603 | Primary aldosteronism | ... aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are ... | Endocrine and metabolic disease |
(HALD1) CYP11B1 [HSA:1584] [KO:K00497] (HALD3) KCNJ5 [HSA:3762] [KO:K04999] (HALD4) CACNA1H [HSA:8912] [KO:K04855] (PASNA) CACNA1D [HSA:776] [KO:K04851] ATP1A1 [HSA:476] [KO:K01539] ATP2B3 [HSA:492] [KO:K05850] |
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| H01606 | Polymyalgia rheumatica | Polymyalgia rheumatica (PMR) is a relatively common inflammatory rheumatic disease in people older than 50 years of age. PMR is a clinical condition defined as the presence of inflammatory pain in the ... | Musculoskeletal disease | ||
| H01611 | Alcohol dependence | ... AD are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Both genes are involved in enzymatic degradation of alcohol. Recent genome-wide association studies (GWAS) have reported that the most ... | 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] |
| H01617 |
Foodborne trematodiasis Foodborne trematode infection |
... Echinostoma spp., heterophyids, Metagonimus spp.), freshwater crab or crayfish (Paragonimus spp.), aquatic plants (Fasciola spp., Fasciolopsis buski), snails or tadpoles (Echinostoma spp.), or by drinking ... | Parasitic infectious disease |
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