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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Ehlers-Danlos syndrome type 7A

1 OMIM reference -
1 associated gene
7 signs/symptoms

Acral dystrophic epidermolysis bullosa

Ehlers-Danlos syndrome type 7A

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL7A1	(0.75)	COL1A1

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Ehlers-Danlos syndrome type 7A
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - EDS VIIA

	Classification (Orphanet): - Rare genetic disease - Rare skin 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 dominant		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Acral dystrophic epidermolysis bullosa		Ehlers-Danlos syndrome type 7A
	Very frequent - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Muscle weakness / flaccidity - Short stature / dwarfism / nanism - Thin skin