Search Result

 Top
1 to 12 of 12
Entry Name Description Category Pathway Gene
H00445 Osteoarthritis with mild chondrodysplasia The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1). Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H00476 Multiple epiphyseal dysplasia ... Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD). Congenital malformation (EDM1) COMP [HSA:1311] [KO:K04659]
(EDM2) COL9A2 [HSA:1298] [KO:K08131]
(EDM3) COL9A3 [HSA:1299] [KO:K08131]
(EDM4) DTDST [HSA:1836] [KO:K14701]
(EDM5) MATN3 [HSA:4148] [KO:K19467]
(EDM6) COL9A1 [HSA:1297] [KO:K08131]
(EDM7) CANT1 [HSA:124583] [KO:K12304]
(EDMMD) COL2A1 [HSA:1280] [KO:K19719]
H00519 Spondyloepiphyseal dysplasia congenita ... (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases. Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H00520 Type II collagenopathies Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by ... Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H00805 Vitreoretinal degeneration ... detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation ... Nervous system disease (STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(SVD) KCNJ13 [HSA:3769] [KO:K05006]
(WGVRP) VCAN [HSA:1462] [KO:K06793]
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(ESCS) NR2E3 [HSA:10002] [KO:K08546]
(VRCP) BEST1 [HSA:7439] [KO:K13878]
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]
H01529 Avascular necrosis of femoral head
Osteonecrosis of the femoral head 		... children. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association ... 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]
H02066 Achondrogenesis type II
Achondrogenesis, Langer-Saldino type 		Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations. Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H02070 Kniest dysplasia ... is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft ... Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H02071 Czech dysplasia ... spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene. Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H02072 Stickler syndrome ... detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome. Congenital malformation (STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(STL3) COL11A2 [HSA:1302] [KO:K19721]
(STL4) COL9A1 [HSA:1297] [KO:K08131]
(STL5) COL9A2 [HSA:1298] [KO:K08131]
(STL6) COL9A3 [HSA:1299] [KO:K08131]
H02187 Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... Congenital malformation (SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719]
(SEMDSH) DDRGK1 [HSA:65992] [KO:K23344]
(SEMDFA) RSPRY1 [HSA:89970] [KO:K23332]
(SEMDDR) UFSP2 [HSA:55325] [KO:K01376]
(SEMDIST) RPL13 [HSA:6137] [KO:K02873]
(SEMDIK) SIK3 [HSA:23387] [KO:K19009]
(SEMDAG) ACAN [HSA:176] [KO:K06792]
(SEMDG) NANS [HSA:54187] [KO:K05304]
(SEMDSP) TONSL [HSA:4796] [KO:K09257]
(SEMDX) BGN [HSA:633] [KO:K08118]
(SEMDM) MMP13 [HSA:4322] [KO:K07994]
(SEMDHL) AIFM1 [HSA:9131] [KO:K04727]
(SEMDGC) ERI1 [HSA:90459] [KO:K18416]
1 to 12 of 12
[ KEGG | DISEASE | DRUG | MEDICUS ]