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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01431 | Cushing syndrome | ... (USP8) were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent ... | 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] |
| H01435 | Congenital asplenia | ... disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects. Mutations ... | Congenital malformation |
RPSA [HSA:3921] [KO:K02998] GDF1 [HSA:2657] [KO:K05495] |
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| H01437 |
Neurofibromatosis type 1 Von Recklinghausen disease |
... spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more ... | Congenital malformation | NF1 [HSA:4763] [KO:K08052] | |
| H01438 | Neurofibromatosis type 2 | ... Onset typically occurs while a patient is in their 20s. Vestibular schwannomas, usually bilateral, occur in more than 90% of adult patients and intracranial meningiomas occur in about 50% of patients. | Congenital malformation | NF2 [HSA:4771] [KO:K16684] | |
| H01442 |
Septic arthritis Pyogenic arthritis |
... influenzae type-b, and Group A Streptococcus, Streptococcus pneumoniae, Kingella kingae, Neisseria meningitidis and Salmonella spp. are the predominant anaerobic bacteria that cause arthritis in children ... | Bacterial infectious disease | ||
| H01443 | Viridans group streptococcal infection | ... major cause of sepsis and pneumonia in neutropenic individuals, and an important cause of sepsis and meningitis in neonates. These organisms are also occasional pathogens in healthy children and adults, causing ... | Bacterial infectious disease | ||
| H01447 | Body dysmorphic disorder | ... Patients with BDD respond to treatment with serotonergic agents such as clomipramine or selective serotonin reuptake inhibitors (SSRIs), which suggests a dysfunction of central serotonergic neurotransmission ... | Mental and behavioural disorder | ||
| H01448 | Hoarding disorder | ... trial evidence suggests that OCD patients with hoarding symptoms are less responsive to selective serotonin reuptake inhibitors (SSRIs) than those without hoarding symptoms. On the other hand, hoarding and ... | Mental and behavioural disorder | ||
| H01449 |
Excoriation disorder Skin picking disorder |
... reduction with habit reversal or acceptance-enhanced behavior therapy (AEBT). The data for selective serotonin reuptake inhibitors (SSRIs) efficacy in this disease are not convincing, although some studies suggested ... | Mental and behavioural disorder | ||
| H01450 | Obsessive-compulsive disorder | ... this disorder are cognitive behavioral therapy (exposure and response prevention) and selective serotonin reuptake inhibitors (SSRIs). In recent years, one of the promising novel treatment strategies developed ... | Mental and behavioural disorder |
HTR2A [HSA:3356] [KO:K04157] SLC6A4 [HSA:6532] [KO:K05037] |
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| H01452 | Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection | ... abnormalities (e.g., choreiform movements) during exacerbations. It has been reported that antibiotics and immunomodulatory therapies (plasma exchange and IVIG) were effective in lessening of symptom severity. | Immune system disease | ||
| H01453 | Obsessive-Compulsive and Related Disorder | ... Trichotillomania, Hoarding disorder, Excoriation disorder, and Body dysmorphic disorder. The usual treatments of OCRD are cognitive behavioural therapy (CBT) and selective serotonin reuptake inhibitors (SSRI). | Mental and behavioural disorder | ||
| H01455 | Necrotizing fasciitis | Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also ... | Bacterial infectious disease | ||
| H01456 | Diabetic nephropathy | ... decreased glomerular filtration rate (GFR), excessive deposition of extracellular matrix proteins, thickening of the peripheral glomerular basement membrane, glomerular hypertrophy, tubulointerstitial fibrosis ... | Metabolic disease; Endocrine disease; Urinary system disease |
(Type 1 DN) VEGFA [HSA:7422] [KO:K05448] (Type 1,2 DN) ACE [HSA:1636] [KO:K01283] (Type 1,2 DN) SOD2 [HSA:6648] [KO:K04564] |
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| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
... commonly affects the skin, nerves, gastrointestinal tract, and heart. It can be serious and life-threatening. EGPA pathogenesis is not well known. The disease is probably the result of a complex interaction ... | Immune system disease | ||
| H01471 | Lymphangioma | ... surrounding tissues and/or infiltrate vital structures similar to malignancies, sometimes causing life-threatening complications. The etiology of lymphangioma is not certain. The presence of lymphatic endothelial ... | Neoplasm | VEGFR-3 (overexpression) [HSA:2324] [KO:K05097] | |
| H01480 |
Idiopathic macular hole Retinal perforations |
... defect. Initially, vitrectomy surgery with long-acting gas (SF6, C3F8) and postoperative face-down positioning for at least 1 week was the only option. However, nowadays, there are a number of possible treatment ... | Nervous system disease | ||
| H01484 | 5q- syndrome | ... compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 ... | Hematologic disease | RPS14 [HSA:6208] [KO:K02955] | |
| H01490 | Multiple sclerosis | ... progress to SPMS. The aetiology of MS is not well understood, but it is likely multifactorial, combining both genetic and environmental factors. Recently, the literature on the risk factors for MS has ... | Immune system disease |
(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158] |
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| H01492 |
Systemic sclerosis Systemic scleroderma |
... skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either ... | Immune system disease; Skin disease | ||
| H01504 |
Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome |
Vogt-Koyanagi-Harada syndrome (VKHS), initially described as an uveomeningoencephalitic syndrome, is a rare systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear ... | Immune system disease; Nervous system disease |
HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752] |
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| H01510 |
Malignant paraganglioma Pheochromocytoma |
... germline mutation in one of the susceptibility genes identified so far explains ~40% of all cases; the remaining 60% are thought to be sporadic cases. Sporadic as well as hereditary PGLs have been divided in two ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01512 | Langerhans cell histiocytosis | ... Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal ... | Cancer |
BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] |
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| H01521 |
Pneumocystis pneumonia Pneumocystis carinii pneumonia |
... unicellular, eukaryotic organisms that reside in the lungs of many mammals. The 5 main species have been identified. PCP is a potentially life-threatening disease that occurs in immunocompromised patients. | Fungal infectious disease | ||
| H01525 |
22q11.2 deletion syndrome CATCH22 |
... congenital heart disease, velopharyngeal insufficiency or cleft palate, facial anomalies, speech and learning disabilities, neonatal hypocalcemia, and T-cell immune deficit. Nevertheless, the spectrum of anomalies ... | Chromosomal abnormality | TBX1 [HSA:6899] [KO:K10175] | |
| H01528 | Neuroleptic malignant syndrome | Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction ... | Nervous system disease | ||
| H01541 | Argentine hemorrhagic fever | Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated ... | Viral infectious disease | ||
| H01552 |
Down syndrome Trisomy 21 |
... linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are quite variable ... | Chromosomal abnormality | ||
| H01556 | Meningioma | Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend ... | 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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| H01558 | Parathyroid carcinoma | ... with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin staining together with a CDC73 gene mutation increases the likelihood of malignancy and also predicts the ... | Cancer |
CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175] CASR [HSA:846] [KO:K04612] |
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| H01561 |
Chiari malformation Arnold-Chiari syndrome |
... medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial ... | Congenital malformation | ||
| H01565 |
Wernicke encephalopathy Wernicke-Korsakoff syndrome |
... present with the triad of ophthalmoplegia, ataxia, and confusion. It can be associated with life-threatening complication like central pontine myelinolysis. When Wernicke encephalopathy is suspected, treatment ... | Endocrine and metabolic disease | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01577 | Essential tremor | ... individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic ... | 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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| H01578 | Subacute myelo-optico-neuropathy (SMON) | Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset ... | Neurodegenerative disease | ||
| H01583 |
Hydroxykynureninuria Xanthurenic aciduria Kynureninase deficiency |
Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and ... | Inherited metabolic disorder | KYNU [HSA:8942] [KO:K01556] | |
| H01585 | Autoimmune hemolytic anemia | ... the optimal temperature of reaction with autologous erythrocytes, in warm (wAIHA), cold (cold agglutinin disease; CAD), and mixed forms, although atypical cases of difficult diagnostic classification are ... | Hematologic disease | ||
| H01594 | Myasthenia gravis | ... it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years. | Immune system disease; Nervous system disease | ||
| H01596 | Lambert-Eaton myasthenic syndrome | ... to the neurological abnormality. Cancer therapy is the priority for these patients. As for the remaining cases, no antibodies to P/Q-type VGCCs have been found in 10-15% of patients with LEMS. The fact ... | Immune system disease; Nervous system disease | ||
| H01598 |
Addison disease Primary adrenal insufficiency Hypoadrenocorticism |
... adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation ... | Endocrine and metabolic disease | NR0B1 [HSA:190] [KO:K08562] | |
| H01603 | Primary aldosteronism | ... by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However ... | 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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