ODCs

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

PROTEIN INTERACTIONS: 1

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

Neurodegeneration with brain iron accumulation due to C19orf12 mutation

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema


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

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

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

No signs/symptoms info available.