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Congenital analbuminemia

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Autosomal recessive epidermolysis bullosa simplex

2 OMIM references -
2 associated genes
9 signs/symptoms

Congenital analbuminemia

Autosomal recessive epidermolysis bullosa simplex

ALB	(UniProt - OMIM)		DST	(UniProt - OMIM)
			KRT14	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALB	(0.72)	KRT14

Citations in the biomedical literature:

Congenital analbuminemia		Autosomal recessive epidermolysis bullosa simplex
	Synonym(s): (no synonyms)		Synonym(s): - EBS-AR

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -		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: normal Type of inheritance: autosomal recessive		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: No OMIM references 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
Congenital analbuminemia
(no data available)