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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Osteogenesis imperfecta type 2

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

Acral dystrophic epidermolysis bullosa

Osteogenesis imperfecta type 2

COL7A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			COL1A2	(UniProt - OMIM)
			CRTAP	(UniProt - OMIM)
			LEPRE1	(UniProt - OMIM)
			PPIB	(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		Osteogenesis imperfecta type 2
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - Lethal osteogenesis imperfecta - OI type 2

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 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
Osteogenesis imperfecta type 2
(no data available)