ODCs

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

PROTEIN INTERACTIONS: 1

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

Neurodegeneration with brain iron accumulation due to C19orf12 mutation

Hypohidrotic ectodermal dysplasia with immunodeficiency

C19ORF12	(UniProt - OMIM)		IKBKG	(UniProt - OMIM)
			NFKBIA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	C19ORF12	(0.68)	IKBKG

Citations in the biomedical literature:

Neurodegeneration with brain iron accumulation due to C19orf12 mutation		Hypohidrotic ectodermal dysplasia with immunodeficiency
	Synonym(s): - MPAN - Mitochondrial membrane protein associated neurodegeneration - NBIA due to C19orf12 mutation - NBIA5 - Neurodegeneration with brain iron accumulation type 5		Synonym(s): - Anhidrotic ectodermal dysplasia with immunodeficiency - EDA-ID - HED-ID

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

	Classification (ICD10): - Diseases of the nervous system -		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: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

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

No signs/symptoms info available.