ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
9 signs/symptoms

Macrocephaly-autism syndrome

Autosomal recessive epidermolysis bullosa simplex

PTEN	(UniProt - OMIM)		DST	(UniProt - OMIM)
			KRT14	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.63)	KRT14

Citations in the biomedical literature:

Macrocephaly-autism syndrome		Autosomal recessive epidermolysis bullosa simplex
	Synonym(s): (no synonyms)		Synonym(s): - EBS-AR

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		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: normal Type of inheritance: autosomal recessive

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

Autosomal recessive epidermolysis bullosa simplex
	Very frequent - Autosomal recessive inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal erosion / resorption of teeth / odontolysis - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Multiple caries - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Occasional - Ichthyosis / ichthyosiform dermatitis
Macrocephaly-autism syndrome
(no data available)