ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Ehlers-Danlos syndrome, cardiac valvular type

Ehlers-Danlos syndrome type 7A


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A2	(0.62)	COL1A1

Citations in the biomedical literature:

Ehlers-Danlos syndrome, cardiac valvular type		Ehlers-Danlos syndrome type 7A
	Synonym(s): - EDS, cardiac valvular type		Synonym(s): - EDS VIIA

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical cardiac disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Ehlers-Danlos syndrome type 7A
	Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Autosomal dominant inheritance - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Muscle weakness / flaccidity - Short stature / dwarfism / nanism - Thin skin
Ehlers-Danlos syndrome, cardiac valvular type
(no data available)