ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Hypohidrotic ectodermal dysplasia with immunodeficiency

Adenine phosphoribosyltransferase deficiency

IKBKG	(UniProt - OMIM)		APRT	(UniProt - OMIM)
NFKBIA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.56)	APRT

Citations in the biomedical literature:

Hypohidrotic ectodermal dysplasia with immunodeficiency		Adenine phosphoribosyltransferase deficiency
	Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID		Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

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

Adenine phosphoribosyltransferase deficiency
	Very frequent - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hematuria / microhematuria - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections - Renal failure
Hypohidrotic ectodermal dysplasia with immunodeficiency
(no data available)