Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00432 | Hereditary dentine disorders | ... imperfecta [DS:H00506]. It has been shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations ... | Congenital malformation | DSPP [HSA:1834] [KO:K23573] | |
| H00506 | Osteogenesis imperfecta | Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... | Congenital malformation |
(OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236] (OI2/3/4) COL1A2 [HSA:1278] [KO:K06236] (OI5) IFITM5 [HSA:387733] [KO:K06566] (OI6) SERPINF1 [HSA:5176] [KO:K19614] (OI7) CRTAP [HSA:10491] [KO:K19606] (OI8) P3H1 [HSA:64175] [KO:K08134] (OI9) PPIB [HSA:5479] [KO:K03768] (OI10) SERPINH1 [HSA:871] [KO:K09501] (OI11) FKBP10 [HSA:60681] [KO:K09575] (OI12) SP7 [HSA:121340] [KO:K09197] (OI13) BMP1 [HSA:649] [KO:K05502] (OI14) TMEM38B [HSA:55151] [KO:K24013] (OI15) WNT1 [HSA:7471] [KO:K03209] (OI16) CREB3L1 [HSA:90993] [KO:K09048] (OI17) SPARC [HSA:6678] [KO:K24262] (OI18) TENT5A [HSA:55603] [KO:K23033] (OI19) MBTPS2 [HSA:51360] [KO:K07765] (OI20) MESD [HSA:23184] [KO:K25366] (OI21) KDELR2 [HSA:11014] [KO:K10949] (OI22) CCDC134 [HSA:79879] [KO:K25417] (OI23) PHLDB1 [HSA:23187] [KO:K23794] |
|
| H01593 | Osteoporosis | Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values ... | Musculoskeletal disease |
(BMND1) LRP5 [HSA:4041] [KO:K03068] (BMND12) UGT2B17 [HSA:7367] [KO:K00699] (BMND15) MIR2861 [HSA:100422910] (BMND16) WNT1 [HSA:7471] [KO:K03209] (BMND17) LGR4 [HSA:55366] [KO:K04309] (BMND18) PLS3 [HSA:5358] [KO:K17336] (OPDD) COPB2 [HSA:9276] [KO:K17302] PDLIM4 [HSA:8572] [KO:K23353] CALCR [HSA:799] [KO:K04576] COL1A1 [HSA:1277] [KO:K06236] COL1A2 [HSA:1278] [KO:K06236] |
|
| H02241 | Ehlers-Danlos syndrome cardiac valvular type | ... addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV. | Congenital malformation | (EDSCV) COL1A2 [HSA:1278] [KO:K06236] | |
| H02243 | Ehlers-Danlos syndrome arthrochalasia type | Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations ... | Congenital malformation |
(EDSARTH1) COL1A1 [HSA:1277] [KO:K06236] (EDSARTH2) COL1A2 [HSA:1278] [KO:K06236] |
|
| H02724 | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures ... | Congenital malformation |
(OIEDS1) COL1A1 [HSA:1277] [KO:K06236] (OIEDS2) COL1A2 [HSA:1278] [KO:K06236] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |