ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Familial porencephaly

Epidermolysis bullosa simplex superficialis

COL4A1	(UniProt - OMIM)		COL7A1	(UniProt - OMIM)
COL4A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A1	(0.75)	COL7A1

Citations in the biomedical literature:

Familial porencephaly		Epidermolysis bullosa simplex superficialis
	Synonym(s): (no synonyms)		Synonym(s): - EBSS

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: 1 OMIM reference - No MeSH references

Epidermolysis bullosa simplex superficialis
	Very frequent - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Familial porencephaly
(no data available)