Osteoarthritis with mild chondrodysplasia (OSCDP) 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).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00445 Osteoarthritis with mild chondrodysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00445 Osteoarthritis with mild chondrodysplasia
Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. 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).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00476 Multiple epiphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00476 Multiple epiphyseal dysplasia
nt06548 Integrin signaling
H00476 Multiple epiphyseal dysplasia
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L
Title
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Type II collagenopathies [DS:H00520] Spondyloepiphyseal dysplasia [DS:H02462]
Description
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) 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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00519 Spondyloepiphyseal dysplasia congenita
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00519 Spondyloepiphyseal dysplasia congenita
Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT) Achondrogenesis type II [DS:H02066] Legg-Calve-Perthes disease [DS:H01526] Osteoarthritis with mild chondrodysplasia [DS:H00445] Kniest dysplasia [DS:H02070] Czech dysplasia [DS:H02071] Spondyloepiphyseal dysplasia congenita [DS:H00519] Spondyloperipheral dysplasia (SPD) Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED)
Description
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 reduced collagen content in cartilage (Kniest dysplasia).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00520 Type II collagenopathies
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00520 Type II collagenopathies
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A
Title
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H
Title
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
Type II collagenopathies [DS:H00520] Avascular necrosis of femoral head [DS:H01529]
Description
Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater 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.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB82 Chondropathies
H01526 Legg-Calve-Perthes Disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H01526 Legg-Calve-Perthes Disease
Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, 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 intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:H01526] is a particular type of femoral head necrosis occurring in 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 exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB82 Chondropathies
H01529 Avascular necrosis of femoral head
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H01529 Avascular necrosis of femoral head
Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Seguin C
Title
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02066 Achondrogenesis type II
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02066 Achondrogenesis type II
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 palate, myopia, retinal detachment, and hearing loss.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02070 Kniest dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02070 Kniest dysplasia
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive 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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02071 Czech dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02071 Czech dysplasia
Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal 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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02072 Stickler syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02072 Stickler syndrome
nt06548 Integrin signaling
H02072 Stickler syndrome
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
Title
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
