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Hypoplastic amelogenesis imperfecta

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

PROTEIN INTERACTIONS: 1

Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

Hypoplastic amelogenesis imperfecta

Acral dystrophic epidermolysis bullosa

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


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

Citations in the biomedical literature:

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

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

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

	Epidemiological data: Class of prevalence: - Average age onset: - 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: - Type of inheritance: autosomal dominant

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