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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Centripetalis recessive dystrophic epidermolysis bullosa

1 associated gene
3 signs/symptoms

Acral dystrophic epidermolysis bullosa

Centripetalis recessive dystrophic epidermolysis bullosa

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL7A1

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Centripetalis recessive dystrophic epidermolysis bullosa
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - Centripetal dystrophic epidermolysis bullosa - Centripetal recessive dystrophic epidermolysis bullosa - RDEB, centripetalis - RDEB-Ce

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Acral dystrophic epidermolysis bullosa		Centripetalis recessive dystrophic epidermolysis bullosa
	Very frequent - Autosomal dominant inheritance - Nails anomalies - Skin hypoplasia / aplasia / atrophy		(no more signs)