Ehlers-Danlos syndrome, cardiac valvular type: genes and variants

Genes linked to Ehlers-Danlos syndrome, cardiac valvular type

• COL1A2: Collagen alpha-2(I) chain

  It contributes one of the three chains of type I collagen, providing tensile strength to bone, skin, tendon, blood vessels, and other connective tissues. Pathogenic variants can cause osteogenesis imperfecta, Ehlers-Danlos phenotypes, and related connective-tissue disorders.

  6 disease-causing and 4 uncertain variants in COL1A2 are linked to Ehlers-Danlos syndrome, cardiac valvular type.

Known disease-causing variants in Ehlers-Danlos syndrome, cardiac valvular type

Same protein, different disease

• Osteogenesis imperfecta is also caused by COL1A2 variants; they fall mostly in different places as the Ehlers-Danlos syndrome, cardiac valvular type variants (332 disease-causing).
• Ehlers-Danlos syndrome, classic type, 1 is also caused by COL1A2 variants; they fall mostly in different places as the Ehlers-Danlos syndrome, cardiac valvular type variants (265 disease-causing).
• Osteogenesis imperfecta with normal sclerae, dominant form is also caused by COL1A2 variants; they fall mostly in different places as the Ehlers-Danlos syndrome, cardiac valvular type variants (51 disease-causing).
• Osteogenesis imperfecta, perinatal lethal is also caused by COL1A2 variants; they fall mostly in different places as the Ehlers-Danlos syndrome, cardiac valvular type variants (42 disease-causing).
• Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 is also caused by COL1A2 variants; they fall mostly in different places as the Ehlers-Danlos syndrome, cardiac valvular type variants (11 disease-causing).

Diseases related to Ehlers-Danlos syndrome, cardiac valvular type

• Osteogenesis imperfecta, also linked to COL1A2
• Ehlers-Danlos syndrome, classic type, 1, also linked to COL1A2
• Ehlers-Danlos syndrome, also linked to COL1A2
• Osteogenesis imperfecta, perinatal lethal, also linked to COL1A2
• Osteogenesis imperfecta with normal sclerae, dominant form, also linked to COL1A2
• Connective tissue disorder, also linked to COL1A2
• Ehlers-Danlos syndrome, arthrochalasia type, also linked to COL1A2
• Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, also linked to COL1A2
• Osteoporosis, also linked to COL1A2
• Postmenopausal osteoporosis, also linked to COL1A2
• Skeletal dysplasia, also linked to COL1A2

Frequently asked questions

Which genes are linked to Ehlers-Danlos syndrome, cardiac valvular type?

In CATVariant, Ehlers-Danlos syndrome, cardiac valvular type is linked to 1 analyzed protein: COL1A2 (Collagen alpha-2(I) chain).

How many genetic variants are linked to Ehlers-Danlos syndrome, cardiac valvular type?

12 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.

Which uncertain variants in Ehlers-Danlos syndrome, cardiac valvular type look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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