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Mitochondrial trifunctional protein deficiency
1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mitochondrial trifunctional protein deficiency
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

HADHA
(UniProt - OMIM)
 WWOX
(UniProt - OMIM)
HADHB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HADHA
(0.63)
WWOX


Citations in the biomedical literature:


Mitochondrial trifunctional protein deficiency
HADHA HADHB
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX



Mitochondrial trifunctional protein deficiency
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Synonym(s):
- TFP deficiency
- TFPD
Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D024741
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.