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Neurodegeneration with brain iron accumulation due to C19orf12 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

C19ORF12
(UniProt - OMIM)
 IKBKG
(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
C19ORF12
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Neurodegeneration with brain iron accumulation due to C19orf12 mutation
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
- MPAN
- Mitochondrial membrane protein associated neurodegeneration
- NBIA due to C19orf12 mutation
- NBIA5
- Neurodegeneration with brain iron accumulation type 5
Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.