ODCs

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

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Hypohidrotic ectodermal dysplasia with immunodeficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

IKBKG	(UniProt - OMIM)		STAT1	(UniProt - OMIM)
NFKBIA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NFKBIA	(0.63)	STAT1

Citations in the biomedical literature:

Hypohidrotic ectodermal dysplasia with immunodeficiency		Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
	Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID		Synonym(s): - MSMD due to partial STAT1 deficiency - MSMD due to partial signal transducer and activator of transcription 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.