Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00061 |
Prion disease Creutzfeldt-Jacob disease (CJD) Gerstmann-Straussler disease (GSD) Gerstmann-Straussler-Scheinker disease (GSSD) Fatal familial insomnia (FFI) |
... mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane ... | Neurodegenerative disease | hsa05020 Prion disease | PRNP (mutation) [HSA:5621] [KO:K05634] |
| H00420 | Familial partial lipodystrophy | ... three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported. | Inherited metabolic disorder |
(FPLD2) LMNA [HSA:4000] [KO:K12641] (FPLD3) PPARG [HSA:5468] [KO:K08530] (FPLD4) PLIN1 [HSA:5346] [KO:K08768] (FPLD5) CIDEC [HSA:63924] [KO:K25878] (FPLD6) LIPE [HSA:3991] [KO:K07188] (FPLD7) CAV1 [HSA:857] [KO:K06278] (FPLD8) ADRA2A [HSA:150] [KO:K04138] (FPLD9) PLAAT3 [HSA:11145] [KO:K16817] (APLD) LMNB2 [HSA:84823] [KO:K07611] AKT2 [HSA:208] [KO:K04456] |
|
| H00512 | Permanent neonatal diabetes mellitus | ... PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients. | Endocrine and metabolic disease |
(PNDM1) GCK [HSA:2645] [KO:K12407] (PNDM2) KCNJ11 [HSA:3767] [KO:K05004] (PNDM3) ABCC8 [HSA:6833] [KO:K05032] (PNDM4) INS [HSA:3630] [KO:K04526] (PAGEN1) PDX1 [HSA:3651] [KO:K07594] (PACA) PTF1A [HSA:256297] [KO:K09073] (IPEX) FOXP3 [HSA:50943] [KO:K10163] (NDH) GLIS3 [HSA:169792] [KO:K09232] |
|
| H00654 | Barth syndrome | ... mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved in the metabolism of cardiolipin localized ... | Inherited metabolic disorder | TAFAZZIN [HSA:6901] [KO:K13511] | |
| H00789 | Keratoconus | Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. | Nervous system disease |
(KTCN1) VSX1 [HSA:30813] [KO:K09335] (KTCN9) TUBA3D [HSA:113457] [KO:K07374] |
|
| H00892 | Bronchiectasis with or without elevated sweat chloride | ... airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown to have mutations in the epithelial sodium ... | Respiratory system disease |
(BESC1) SCNN1B [HSA:6338] [KO:K04825] (BESC2) SCNN1A [HSA:6337] [KO:K04824] (BESC3) SCNN1G [HSA:6340] [KO:K04827] |
|
| H00952 |
Thiel-Behnke dystrophies Corneal dystrophy of Bowman layer type II Honeycomb corneal dystrophy Anterior limiting membrane dystrophy type II Curly fibers corneal dystrophy Waardenburg-Jonker corneal dystrophy |
... this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also linked to a mutation on chromosome 10q23-24, the gene product is currently unknown. | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H01241 | Congenital diaphragmatic hernia | ... Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development ... | Congenital malformation |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] |
|
| H01250 | Hereditary gingival fibromatosis | ... have been mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating ... | Digestive system disease |
(GINGF1) SOS1 [HSA:6654] [KO:K03099] (GINGF5) REST [HSA:5978] [KO:K09222] |
|
| H01282 | Spermatogenic failure | ... oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis. | Reproductive system disease |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
|
| 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] | |
| H01460 |
West syndrome Infantile spasms |
... presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes ... | Nervous system disease | ARX [HSA:170302] [KO:K09452] | |
| H01463 | Mycosis fungoides | ... with erythematous 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 ... | 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] |
|
| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic vasculitic disorder of unknown etiology that affects small-to-medium-size blood vessels. This disease has been called Churg-Strauss syndrome ... | Immune system disease | ||
| H01475 |
Lipodystrophy Lipoatrophy |
... lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms. | Inherited metabolic disorder | ||
| H01476 |
Behcet disease Behcet syndrome |
... the ancient Silk Road, including Asia, Middle East, and Mediterranean. Although the etiology is still unknown, this disease is believed to be triggered by environmental factors such as microbial agents in ... | Immune system disease; Skin disease | ||
| H01479 | Castleman disease | ... plays a central pathogenetic role, although the exact events precipitating the oversecretion of IL-6 are unknown. Recently, two antibody-based therapeutics targeting components of the IL-6/IL-6R complex have ... | Immune system disease | IL6 [HSA:3569] [KO:K05405] | |
| H01491 |
Neuromyelitis optica Devic disease |
... demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed to be an autoimmune disorder triggered by an environmental factor, possibly ... | Immune system disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
... improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to ... | Immune system disease; Skin disease | ||
| H01507 | Seronegative arthritis | ... arthritis, enthesitis, and extra-skeletal manifestations, such as uveitis. Although the cause of SpA is unknown, it is generally accepted that SpA is a multifactorial disease. Genetics (such as HLA-B27), inflammatory ... | Immune system disease | HLA-B [HSA:3106] [KO:K06751] | |
| H01516 |
Adult onset Still disease Adult Still disease |
... function tests, and elevated acute-phase reactants (ESR, CRP, ferritin). The exact pathogenesis of AOSD is unknown. Several factors such as genetics, infectious (bacterial and viral) agents, and environmental ... | Immune system disease | ||
| H01528 | Neuroleptic malignant syndrome | ... of anti dopaminergic agents. Although the precise pathophysiologic mechanism underlying NMS remains unknown, a reduction in dopaminergic activity in the brain probably by dopamine D2 receptor blockade ... | Nervous system disease | ||
| H01529 |
Avascular necrosis of femoral head Osteonecrosis of the femoral head |
... limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol ... | 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] |
|
| H01590 | Chronic eosinophilic leukemia | Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils ... | Cancer |
FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363] |
|
| H01646 | Major depressive disorder | ... environmental and genetic factors are involved in the etiology of MDD although the pathogenesis of MDD remains unknown. Mutations in genes involved in brain serotonin synthesis, have been identified in patients. ... | Mental and behavioural disorder |
TPH2 [HSA:121278] [KO:K00502] HTR2A [HSA:3356] [KO:K04157] FKBP5 [HSA:2289] [KO:K09571] |
|
| H01647 |
Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis |
... considered the most common cause of painful thyroiditis. It is an uncommon but important cause of fever of unknown origin (FUO). SAT is often preceded by an upper respiratory tract infection and occurs concurrently ... | Endocrine and metabolic disease | ||
| H01649 | Schizophrenia | ... function, the most of them remains to be identified. The pathogenic mechanisms underlying schizophrenia are unknown, but observers have repeatedly noted pathological features involving excessive loss of gray matter ... | Mental and behavioural disorder |
(SCZD4) PRODH [HSA:5625] [KO:K00318] (SCZD6) NRG1 [HSA:3084] [KO:K05455] (SCZD9) DISC1 [HSA:27185] [KO:K16534] (SCZD15) SHANK3 [HSA:85358] [KO:K15009] (SZCD17) NRXN1 [HSA:9378] [KO:K07377] (SCZD18) SLC1A1 [HSA:6505] [KO:K05612] (SCZD19) RBM12 [HSA:10137] [KO:K24526] MTHFR [HSA:4524] [KO:K25004] CHI3L1 [HSA:1116] [KO:K17523] SYN2 [HSA:6854] [KO:K19941] DRD3 [HSA:1814] [KO:K04146] RTN4R [HSA:65078] [KO:K16659] DAOA [HSA:267012] [KO:K24397] HTR2A [HSA:3356] [KO:K04157] AKT1 [HSA:207] [KO:K04456] C4A [HSA:720] [KO:K03989] APOL2 [HSA:23780] [KO:K14480] APOL4 [HSA:80832] [KO:K14480] |
|
| H01652 | Seborrheic dermatitis | ... of life, during puberty, and in adulthood with an apex at 40 to 60 years of age. The cause of SD is unknown and the disease seems to be multifactorial. Malassezia yeasts are considered to play an important ... | Immune system disease; Skin disease | ||
| H01653 |
Bipolar disorder Manic depressive illness |
... pharmacological treatments exist for bipolar disorder, the pathophysiology of the condition essentially remains unknown. Although bipolar disorder is one of the most heritable psychiatric disorders, a multifactorial ... | Mental and behavioural disorder | (MAFD7) XBP1 [HSA:7494] [KO:K09027] | |
| H01659 | Pityriasis rubra pilaris | ... pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic papules ... | Immune system disease; Skin disease | CARD14 [HSA:79092] [KO:K20913] | |
| H01664 | Panic disorder | ... Genetic susceptibility factors also exist, but their exact nature and pathophysiological mechanisms remain unknown. Cognitive behavioural therapy (CBT) and several medications, including selective serotonin reuptake ... | Mental and behavioural disorder | ||
| H01672 | Juvenile idiopathic arthritis | ... (JIA) is one of the most common childhood rheumatic diseases. Clinically, it is defined as arthritis of unknown origin that starts before the age of 16, and persists for at least 6 weeks. Next to a certain ... | Immune system disease |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
|
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
... portal hypertension (IPH) is a disorder generally classified as a noncirrhotic portal hypertension of unknown etiology, and is clinically characterized by portal hypertension, splenomegaly, and pancytopenia ... | Digestive system disease | ||
| H01698 |
Giant cell arteritis Temporal arteritis |
... arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age of 50 in Western ... | Immune system disease | ||
| H01716 | Idiopathic interstitial pneumonias | ... interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature is distortion of ... | Respiratory system disease | ||
| H01776 | Aicardi syndrome | ... intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, XXY, it ... | Congenital malformation | ||
| H01840 |
Moebius syndrome Mobius syndrome |
... defects, and musculoskeletal, behavioral, and cognitive abnormalities. The specific etiology of MBS is unknown, and theories of the underlying pathophysiology and genetics are numerous. The two main theories ... | Congenital malformation | ||
| H01842 | Bickerstaff brainstem encephalitis | ... progressive ophthalmoplegia, ataxia, and disturbance of consciousness. Although the etiology of BBE is unknown, it has been linked to various antecedent infections. BBE is associated with the anti-GQ1b IgG ... | Immune system disease; Nervous system disease | ||
| H01874 | Cronkhite-Canada syndrome | ... age of onset is 60 years and the male to female ratio is 3:2. At present, the pathogenesis of CCS is unknown, but the factors that include immune abnormalities, infection, and allergies, may be relevant ... | Digestive system disease | ||
| H02256 |
Factor VII deficiency Hypoproconvertinemia |
... life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown. | Hematologic disease | F7 [HSA:2155] [KO:K01320] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |