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

Hawkinsinuria

IKBKG	(UniProt - OMIM)		HPD	(UniProt - OMIM)
NFKBIA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.63)	HPD

Citations in the biomedical literature:

Hypohidrotic ectodermal dysplasia with immunodeficiency		Hawkinsinuria
	Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID		Synonym(s): - 4-HPPD deficiency - 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency - 4-hydroxyphenylpyruvic acid dioxygenase 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

	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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535845

Hawkinsinuria
	Very frequent - Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Organic acid metabolism anomalies Frequent - Hypotonia Occasional - Hypothyroidy
Hypohidrotic ectodermal dysplasia with immunodeficiency
(no data available)