ODCs

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

PROTEIN INTERACTIONS: 1

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

Hypohidrotic ectodermal dysplasia with immunodeficiency

Congenital lactic acidosis, Saguenay-Lac-St. Jean type

IKBKG	(UniProt - OMIM)		LRPPRC	(UniProt - OMIM)
NFKBIA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IKBKG	(0.72)	LRPPRC

Citations in the biomedical literature:

Hypohidrotic ectodermal dysplasia with immunodeficiency		Congenital lactic acidosis, Saguenay-Lac-St. Jean type
	Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID		Synonym(s): - French-Canadian type COX deficiency - French-Canadian type Leigh syndrome - French-Canadian type cytochrome C oxidase deficiency - SLSJ-COX deficiency - Saguenay-Lac-St. Jean cytochrome oxidase deficiency - Saguenay-Lac-St. Jean type Leigh syndrome

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

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

	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: child / adolescent Type of inheritance: autosomal recessive

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

No signs/symptoms info available.