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Ehlers-Danlos syndrome, cardiac valvular type
1 OMIM reference -
1 associated gene
43 connected diseases
No signs/symptoms info
Disease Type of connection
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Ehlers-Danlos syndrome type 7B
Fetal and neonatal alloimmune thrombocytopenia
Dermatofibrosarcoma protuberans
Autosomal dominant macrothrombocytopenia
Glanzmann thrombasthenia
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Congenital stromal corneal dystrophy
Congenital glaucoma
Juvenile glaucoma
LIG4 syndrome
Omenn syndrome
Caffey disease
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Early-onset autosomal dominant Alzheimer disease
Fibronectin glomerulopathy
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Metaphyseal anadysplasia
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Synonym(s):
- EDS, cardiac valvular type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL1A2 P08123120160
No signs/symptoms info available.