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Familial porencephaly

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

PROTEIN INTERACTIONS: 1

Dystrophic epidermolysis bullosa, nails only

1 associated gene
5 signs/symptoms

Familial porencephaly

Dystrophic epidermolysis bullosa, nails only

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		Dystrophic epidermolysis bullosa, nails only
	Synonym(s): (no synonyms)		Synonym(s): - DEB-na - Nails-only DEB

	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: <1 / 1 000 000 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: No OMIM references No MeSH references

Dystrophic epidermolysis bullosa, nails only
	Very frequent - Abnormal toenails - Autosomal dominant inheritance - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Autosomal recessive inheritance
Familial porencephaly
(no data available)