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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Hypoplastic amelogenesis imperfecta

4 OMIM references -
2 associated genes
No signs/symptoms info

Acral dystrophic epidermolysis bullosa

Hypoplastic amelogenesis imperfecta

COL7A1	(UniProt - OMIM)		ENAM	(UniProt - OMIM)
			LAMB3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL7A1	(0.76)	LAMB3

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Hypoplastic amelogenesis imperfecta
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - Amelogenesis imperfecta type 1

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the digestive system -

	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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 4 OMIM references - No MeSH references

Acral dystrophic epidermolysis bullosa
	Very frequent - Autosomal dominant inheritance - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Hypoplastic amelogenesis imperfecta
(no data available)