Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01415 |
Donovanosis Granuloma inguinale |
... Calymmatobacterium granulomatis. This sexually transmitted disease is characterized by granulomatous ulceration of the genitalia and neighboring sites, with little or no tendency to spontaneous healing. | Bacterial infectious disease | ||
| H01421 | Acute hemorrhagic conjunctivitis | Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant ... | Viral infectious disease | ||
| H01428 | Xeroderma pigmentosum | ... pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] |
|
| H01447 | Body dysmorphic disorder | ... individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized by time-consuming behaviors such as mirror gazing, comparing one's ... | Mental and behavioural disorder | ||
| H01449 |
Excoriation disorder Skin picking disorder |
... frontal cortex abnormalities. Furthermore, severity of excoriation disorder may be associated with higher levels of impulsivity. Treatment for this disease has largely focused on cognitive behavioral therapy ... | Mental and behavioural disorder | ||
| H01450 | Obsessive-compulsive disorder | ... subtyping OCD. Early-onset OCD has been proposed to be associated with greater symptom severity, a higher prevalence of tic-related disorders, a more familial form of the condition, and a greater prevalence ... | Mental and behavioural disorder |
HTR2A [HSA:3356] [KO:K04157] SLC6A4 [HSA:6532] [KO:K05037] |
|
| H01454 | Colonic spirochetosis | ... pilosicoli induces disease in both humans and animals, whereas B. aalborgi affects only humans and higher primates. CS is a polymicrobial disease characterized by persistent intimate mucosal epithelial ... | Bacterial infectious disease | ||
| H01461 |
Crow-Fukase syndrome POEMS syndrome |
... sole factor driving the disease. The most commonly used therapies include alkylators and steroids, high-dose chemotherapy with peripheral blood stem cell transplantation, lenalidomide, and bortezomib. | Neoplasm | ||
| H01463 | Mycosis fungoides | ... patches, plaques, and less frequently, tumours. Although the aetiologies of MF are unknown, important insights have been gained in the immunological and genetic perturbations that are associated with these ... | 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] |
|
| H01465 | Large-vessel vasculitis | ... years. Clinical presentations vary from asymptomatic to significant systemic symptoms such as fever, weight loss, and symptoms that result from aortitis and high inflammatory markers; C-reactive protein (CRP); ... | Immune system disease | ||
| H01466 | Ulcerative colitis | ... may include bloody diarrhea, abdominal pain. In most severe cases, patients may experience fever, weight loss, anemia, and the intestine can get distended, presenting deep ulceration and possibly intestinal ... | Immune system disease |
IL23R [HSA:149233] [KO:K05065] IL10 [HSA:3586] [KO:K05443] IL37 [HSA:27178] [KO:K05485] MST1 [HSA:4485] [KO:K23441] |
|
| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
... 2 haplotype of the IL-10 promoter gene are the most studied genetic determinants. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe ... | Immune system disease | ||
| H01474 |
Acquired generalized lipodystrophy Lawrence syndrome |
... disorder appears during the childhood and adolescence. Clinically, loss of subcutaneous fat occurs highly variable, exclusively at the face and extremities including legs, palms and some soles. In rare ... | Inherited metabolic disorder | ||
| H01477 | Congenital short bowel syndrome | ... cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like ... | Congenital malformation | CLMP [HSA:79827] [KO:K06789] | |
| H01480 |
Idiopathic macular hole Retinal perforations |
... macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are constantly being ... | Nervous system disease | ||
| H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | Inherited metabolic disorder |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] |
|
| H01490 | Multiple sclerosis | ... combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments are considered equally effective ... | 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] |
|
| H01491 |
Neuromyelitis optica Devic disease |
... located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype ... | Immune system disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
... diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening ... | Immune system disease; Skin disease | ||
| H01494 | SEMD with joint laxity type | ... type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic or Hall type). SEMDJL1 is caused by mutation in ... | Congenital malformation |
(SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734] (SEMDJL2) KIF22 [HSA:3835] [KO:K10403] (SEMDJL3) EXOC6B [HSA:23233] [KO:K19985] |
|
| H01500 | Lupus nephritis | ... present in up to 90% of the cases. This disease is one of the most serious complications of SLE, with a high morbidity and mortality. Clinical manifestations of active lupus nephritis include proteinuria, active ... | Immune system disease | ||
| H01504 |
Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome |
... exact etiology of VKHS remains unclear, it has also been postulated that such an autoimmune response might be triggered by an infectious agent in a genetically susceptible individual. Several studies have ... | Immune system disease; Nervous system disease |
HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752] |
|
| H01508 | Salivary gland cancer | ... growth factor receptor 2 (HER2) overexpression is present in a minority of MECs and is associated with higher rate of metastasis and worse overall survival. Recent studies have evaluated the epidermal growth ... | Cancer |
CRTC1-MAML2 (translocation) [HSA:23373 84441] [KO:K15309 K06061] MYB-NF1B (translocation) [HSA:4602] [KO:K09420] ETV6-NTRK3 (translocation) [HSA:4916] [KO:K05101] EGFR (overexpression) [HSA:1956] [KO:K04361] HER2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (deletion) [HSA:1029] [KO:K06621] |
|
| H01512 | Langerhans cell histiocytosis | ... a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well ... | Cancer |
BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] |
|
| H01515 |
Scarlet fever Scarlatina |
... Streptococcus, GAS). The important diagnostic signs of scarlet fever include fever, sore throat, rash and bright red tongue with a "strawberry" appearance. Scarlet fever can affect people of all ages, but it is ... | Bacterial infectious disease | ||
| H01516 |
Adult onset Still disease Adult Still disease |
... disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly accompanied by ... | Immune system disease | ||
| H01522 | Zollinger-Ellison syndrome | ... common symptoms include abdominal pain and diarrhea, sometimes accompanied by heartburn, nausea, and weight loss. Peptic ulceration complicated by bleeding is present in 25% of patients, and is more frequently ... | Endocrine and metabolic disease | MEN1 [HSA:4221] [KO:K14970] | |
| H01525 |
22q11.2 deletion syndrome CATCH22 |
... approximately 50% of cases. Other defects including tetralogy of Fallot [DS:H00549], double outflow right ventricle, ventricular septal defect and an aberrant origin of the right subclavian artery are frequently ... | Chromosomal abnormality | TBX1 [HSA:6899] [KO:K10175] | |
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | ... studies, cerebrospinal fluid (CSF) studies, and pathologic examination. CIDP often responds to immune therapies including corticosteroids, plasma exchange, and high-dose intravenous immunoglobulin (IVIg). | Immune system disease; Nervous system disease | ||
| H01528 | Neuroleptic malignant syndrome | ... mental status, muscle rigidity, and autonomic dysfunction. NMS is classically associated with the use of high-potency antipsychotics (AP), such as butyrophenones and phenothiazines, but has also been described ... | Nervous system disease | ||
| H01532 | Gout | ... become a milder, but constant pain. Eventually, untreated gout can cause other comorbidities such as high blood pressure, diabetes, chronic kidney disease and cardiovascular disease. The incidence of the ... | 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] |
|
| H01539 | Nipah virus infection | ... virus that emerged in Malaysia and Singapore in 1998-1999 causing a large outbreak of encephalitis with high mortality in people and also respiratory disease in pigs which served as amplifying hosts. The known ... | Viral infectious disease | ||
| H01552 |
Down syndrome Trisomy 21 |
... trisomy 21 there is recognizable mosaicism for a trisomic and a normal cell line. DS occurs at a much higher incidence in older mothers. Nonetheless, the vast majority of DS births are to younger mothers ... | Chromosomal abnormality | ||
| H01554 | Fallopian tube cancer | ... aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely arises from distal fallopian tube epithelium ... | Cancer |
BRCA1 (mutation) [HSA:672] [KO:K10605] BRCA2 (mutation) [HSA:675] [KO:K08775] TP53 (overexpression) [HSA:7157] [KO:K04451] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-myc (overexpression) [HSA:4609] [KO:K04377] |
|
| H01555 | Merkel cell carcinoma | ... with the sites of these tumours, often on sun-exposed skin, mostly (94%) in the White population. UV light may exert local immunomodulating action as it decreases amount of epidermal T cells and Langerhans ... | Cancer |
TP53 (mutation) [HSA:7157] [KO:K04451] Ha-RAS (mutation) [HSA:3265] [KO:K02833] |
|
| H01556 | Meningioma | ... some meningiomas tend to be more aggressive with tendencies toward invasion of the surrounding brain, high propensity for recurrence, and in rare cases extracranial metastasis. Hereditary factors and ionizing ... | 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] |
|
| H01558 | Parathyroid carcinoma | Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing ... | Cancer |
CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175] CASR [HSA:846] [KO:K04612] |
|
| H01559 | Oropharyngeal cancer | ... carcinomas (OPSCCs) are traditionally categorized as head and neck squamous cell carcinoma (HNSCC). High-risk human papillomavirus (HR-HPV) is now recognised as a causative agent in a subset of OPSCCs. ... | Cancer |
TP53 (mutation) [HSA:7157] [KO:K04451] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] |
|
| H01563 | HIV infection | ... inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV infection ... | 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] |
| H01564 |
Edwards syndrome Trisomy 18 |
... Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal ... | Chromosomal abnormality |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |