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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01450 | Obsessive-compulsive disorder | ... serotonergic neurotransmission is one of the most consistent biological findings in OCD. Studies have also reported dopaminergic abnormalities in the basal ganglia and nucleus accumbens, as well as altered glutamate ... | 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 | ... presence of neurological abnormalities (e.g., choreiform movements) during exacerbations. It has been reported that antibiotics and immunomodulatory therapies (plasma exchange and IVIG) were effective in ... | Immune system disease | ||
| H01456 | Diabetic nephropathy | ... tubulointerstitial fibrosis, increased excretion of albumin, and decreased creatinine clearance. It has been reported that angiotensin-converting enzyme, vascular endothelial growth factor A, and superoxide dismutase ... | 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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| H01457 | Diabetic retinopathy | ... causes shrinkage of the retina, leading to retinal detachment, and ultimately to blindness. It has been reported that vascular endothelial growth factor A, angiotensin-converting enzyme, paraoxonase, erythropoietin ... | 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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| H01459 | Diabetic neuropathy | ... progresses up the legs. This pattern of neuropathy shows a progressive distal axonopathy. It has been reported that vascular endothelial growth factor A is associated with DNs development and progression | Endocrine and metabolic disease; Nervous system disease | VEGFA (polymorphism) [HSA:7422] [KO:K05448] | |
| H01463 | Mycosis fungoides | ... genes generally occur in later-stage disease. Loss of normal apoptotic T-cell pathways has also been reported. Apoptosis is partly mediated by death receptors, notably Fas, which is part of the tumor necrosis ... | Cancer |
p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621] p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685] PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] JUNB (mutation) [HSA:3726] [KO:K09028] Fas (loss of expression) [HSA:355] [KO:K04390] Nav3 (deletion) [HSA:89795] [KO:K23919] c-MYC (amplification) [HSA:4609] [KO:K04377] |
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| H01469 | Short bowel syndrome | ... supplements, and special diet. Currently, a recombinant analog of human glucagon-like peptide-2 (GLP-2) teduglutide associated with the treatment for SBS has been reported to improve intestinal absorption. | Digestive system disease | ||
| H01477 | Congenital short bowel syndrome | ... diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease. | Congenital malformation | CLMP [HSA:79827] [KO:K06789] | |
| H01514 | Landau-Kleffner syndrome | ... unclear, families with mutations in the GRIN2A gene have been described, in which some members have LKS. Recent reports have implicated susceptibility genes (SRPX2, ELP4) to idiopathic focal epilepsies. | Nervous system disease | GRIN2A [HSA:2903] [KO:K05209] | |
| H01516 |
Adult onset Still disease Adult Still disease |
... environmental factors have been thought to play a causative role. Although no familial trend has been reported in AOSD, some studies have reported an association between AOSD and gene polymorphism of HLA ... | Immune system disease | ||
| H01520 |
Chromomycosis Chromoblastomycosis |
... tropical and subtropical areas. Main etiological agents belong to Fonsecaea and Cladophialophora genus and, while scattered cases have been reported in Phialophora, Rhinocladiella and Exophiala genus. | Fungal infectious disease | ||
| H01525 |
22q11.2 deletion syndrome CATCH22 |
... and over 85% of VCFS/ CTAF patients. In addition, several patients with Opitz-GBBB syndrome have been reported with microdeletions of 22q11. The variability in the clinical expression of this disease is extremely ... | Chromosomal abnormality | TBX1 [HSA:6899] [KO:K10175] | |
| H01526 | Legg-Calve-Perthes Disease | ... risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. | Musculoskeletal disease | COL2A1 [HSA:1280] [KO:K19719] | |
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | ... polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually becoming persistently disabled. The ... | Immune system disease; Nervous system disease | ||
| H01529 |
Avascular necrosis of femoral head Osteonecrosis of the femoral head |
... thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:H01526] is a particular type of femoral head necrosis occurring ... | Musculoskeletal disease |
(ANFH1) COL2A1 [HSA:1280] [KO:K19719] (ANFH2) TRPV4 [HSA:59341] [KO:K04973] SERPINE1 [HSA:5054] [KO:K03982] VEGFA [HSA:7422] [KO:K05448] NOS3 [HSA:4846] [KO:K13242] ABCB1 [HSA:5243] [KO:K05658] |
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| H01532 | Gout | ... also diet and lifestyle are contributed to increasing prevalence of the disease. Epidemiology studies reported that the excessive intake of alcohol and purine rich food, which excessively produce uric acid ... | Musculoskeletal disease |
(GOUT1) ABCG2 [HSA:9429] [KO:K05681] (GOUT2) SLC2A9 [HSA:56606] [KO:K08146] (GOUT4) SLC17A3 [HSA:10786] [KO:K12300] (GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102] |
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| H01557 | Hepatic angiosarcoma | ... occupational exposure to vinyl chloride (VC) monomer since 1970, and the number of VC-associated HAS cases reported up to the end of 1998 was 197 worldwide. Exposure of VC connects with a series of mechanistic ... | Cancer |
TP53 (mutation) [HSA:7157] [KO:K04451] KRAS-2 (mutation) [HSA:3845] [KO:K07827] |
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| H01562 |
Patau syndrome Trisomy 13 |
... micrognathia. Median survival time for patients with trisomy 13 is between 7 and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year ... | Chromosomal abnormality | ||
| H01567 |
Thiamine pyrophosphokinase deficiency Thiamine metabolism dysfunction syndrome 5 |
... for enzymes important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental ... | Inherited metabolic disorder | TPK1 [HSA:27010] [KO:K00949] | |
| H01572 | Cole-Carpenter syndrome | ... protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity. Mutations in SEC24D, a gene encoding a component of the COPII complex machinery, have been reported to cause CCS as well. | Congenital malformation |
P4HB [HSA:5034] [KO:K09580] SEC24D [HSA:9871] [KO:K14007] |
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| H01579 |
Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome |
... characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism ... | Congenital malformation |
(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
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| H01583 |
Hydroxykynureninuria Xanthurenic aciduria Kynureninase deficiency |
... metabolism. Some of these deficiencies lead to pellagra or mild pellagra-like symptoms, while it was reported in some patients no symptom of niacin deficiency was observed. The different clinical outcomes ... | Inherited metabolic disorder | KYNU [HSA:8942] [KO:K01556] | |
| H01585 | Autoimmune hemolytic anemia | ... disease; CAD), and mixed forms, although atypical cases of difficult diagnostic classification are reported with increasing frequency. Moreover, AIHAs are classified in primary (idiopathic), in which hemolysis ... | Hematologic disease | ||
| H01595 | Cutaneous lupus erythematosus | ... genetic predisposition, environmental triggers, and abnormalities in the immune response. It has been reported that many genetic risk factors for CLE involve HLA or interferon-related pathways. Corticosteroids ... | Immune system disease; Skin disease | ||
| H01597 |
Restless legs syndrome Willis Ekbom disease |
... delta blocker. A high prevalence of iron deficiency has been found among patients with RLS. It has been reported that treatment with oral iron supplements resulted in improvements in the severity of the symptoms ... | Nervous system disease | ||
| H01598 |
Addison disease Primary adrenal insufficiency Hypoadrenocorticism |
... autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease) ... | Endocrine and metabolic disease | NR0B1 [HSA:190] [KO:K08562] | |
| H01611 | Alcohol dependence | ... are involved in enzymatic degradation of alcohol. Recent genome-wide association studies (GWAS) have reported that the most robust associations for AD have been with such enzyme genes, especially ALDH2 in ... | 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] |
| H01615 | Irritable bowel syndrome | ... IBS suggest that this disorder aggregates in families, and thus, appears potentially heritable. It has been reported that familial GUCY2C diarrhoea syndrome shares clinical characteristics with IBS-D. | Digestive system disease | GUCY2C [HSA:2984] [KO:K12320] | |
| H01618 | Pituitary gigantism | ... the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for ... | Endocrine and metabolic disease | GPR101 (duplication) [HSA:83550] [KO:K08423] | |
| H01623 |
MDPL syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
... hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause this disease. | Congenital malformation | POLD1 [HSA:5424] [KO:K02327] | |
| H01626 | Arteriosclerosis obliterans | ... detectable when ASO already developed, and there was no predictable markers for ASO in its earlier stages. Recent studies have reported that some micro RNAs could be serum markers for early-stage ASO. | Cardiovascular disease | ||
| H01630 | Patent ductus arteriosus | ... ibuprofen is the standard strategy to close the DA. Surgical closure of the DA is an alternative option. Autosomal dominant forms of PDA caused by mutation in the TFAP2B and PRDM6 gene have been reported. | Congenital malformation |
(PDA2) TFAP2B [HSA:7021] [KO:K09176] (PDA3) PRDM6 [HSA:93166] [KO:K20795] |
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| H01657 | Nephrotic syndrome | ... intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents ... | Urinary system disease |
(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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| H01665 | Primary peritoneal carcinoma | ... epithelial ovarian carcinoma (EOC) and is diagnosed in the absence of another identifiable primary. Most reported PPC cases are primary peritoneal serous papillary carcinoma (PPSPC), while peritoneal mixed epithelial ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
| H01668 | Neoplastic meningitis | ... diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological malignancies (leukaemic ... | Nervous system disease | ||
| H01676 | Normal pressure hydrocephalus | ... acquired form of hydrocephalus because the onset of symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus. Symptoms can ... | Nervous system disease | ||
| H01678 | Dandy-Walker syndrome | ... heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal ... | Congenital malformation |
ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
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| H01689 |
Fisher syndrome Miller Fisher syndrome |
... antibodies, are found in over 80% of the patients. Campylobacter and Haemophilus influenzae have been reported as infectious agents prior to the onset of Fisher syndrome. It has been reported that the median ... | Immune system disease; Nervous system disease | ||
| H01694 |
Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome |
... drugs, systemic diseases, physical agents, and food. Drugs are the most commonly blamed. It has been reported that SJS-TEN is strongly associated with the specific variants of the human leukocyte antigen ... | Immune system disease; Skin disease |
HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751] |
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| H01696 | Subacute sclerosing panencephalitis | ... complications associated with the progressive disability. Treatment with interferon, ribavirin, and isoprinosine have reported beneficial results. However, there is no definitively effective treatment for SSPE. | Neurodegenerative disease; Viral infectious disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |