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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00037 | Rhabdomyosarcoma | ... (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with ... | Cancer |
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
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| 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] |
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| 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] |
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| H00519 | Spondyloepiphyseal dysplasia congenita | ... (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) ... | Congenital malformation | COL2A1 [HSA:1280] [KO:K19719] | |
| H00580 | Schimke immunoosseous dysplasia | ... an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental ... | Congenital malformation | SMARCAL1 [HSA:50485] [KO:K14440] | |
| 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] | |
| H00696 |
Haim-Munk syndrome Keratosis palmoplantaris periodontopathia onychogryposis |
Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly ... | Congenital malformation | CTSC [HSA:1075] [KO:K01275] | |
| H00715 |
Darier disease Dyskeratosis follicularis |
Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and ... | Congenital malformation | ATP2A2 [HSA:488] [KO:K05853] | |
| H00757 | Dyggve-Melchior-Clausen disease | ... association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity ... | Congenital malformation | DYM [HSA:54808] [KO:K23951] | |
| H00760 | Spondyloepiphyseal dysplasia tarda | ... spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12. | Congenital malformation | TRAPPC2 [HSA:6399] [KO:K20301] | |
| H00784 | Localized autosomal recessive hypotrichosis | ... inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of ... | Skin disease |
(LAH1) DSG4 [HSA:147409] [KO:K07599] (LAH2) LIPH [HSA:200879] [KO:K19404] (LAH3) P2Y5 [HSA:10161] [KO:K04273] |
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| 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] |
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| H00793 | Poikiloderma with neutropenia | ... erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections ... | Skin disease | USB1 [HSA:79650] [KO:K23093] | |
| H00882 | Cocoon syndrome | ... most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome ... | Congenital malformation | CHUK [HSA:1147] [KO:K04467] | |
| 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] |
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| 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] |
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| 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] |
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| 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] |
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| 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] | |
| H01334 |
Tinea versicolor Pityriasis versicolor |
... including humans. Patients with tinea versicolor most commonly have multiple macules or patches on the trunk, with skip regions of normal skin in between. In addition, it is estimated that these species cause ... | Fungal infectious disease | ||
| H01394 | Cole disease | ... irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 ... | Congenital malformation | ENPP1 [HSA:5167] [KO:K01513] | |
| 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] |
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| 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] |
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| 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] |
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| 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] |
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| 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] |
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| 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 |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |