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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

COL1A2 COL1A1


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
COL1A2
Ehlers-Danlos syndrome type 7A
COL1A1



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)