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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
8 signs/symptoms

Acral dystrophic epidermolysis bullosa

Schizencephaly

COL7A1	(UniProt - OMIM)		COL4A1	(UniProt - OMIM)
			EMX2	(UniProt - OMIM)
			SHH	(UniProt - OMIM)
			SIX3	(UniProt - OMIM)


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

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Schizencephaly
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Acral dystrophic epidermolysis bullosa		Schizencephaly
	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		Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus