ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Mitochondrial trifunctional protein deficiency

Scapuloperoneal amyotrophy

HADHA	(UniProt - OMIM)		DES	(UniProt - OMIM)
HADHB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HADHB	(0.49)	DES

Citations in the biomedical literature:

Mitochondrial trifunctional protein deficiency		Scapuloperoneal amyotrophy
	Synonym(s): - TFP deficiency - TFPD		Synonym(s): - Kaeser syndrome - Neurogenic scapuloperoneal syndrome - Stark-Kaeser syndrome

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D024741		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.