ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Desminopathy

Mitochondrial trifunctional protein deficiency

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


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

Citations in the biomedical literature:

Desminopathy		Mitochondrial trifunctional protein deficiency
	Synonym(s): - Desmin-related myofibrillar myopathy		Synonym(s): - TFP deficiency - TFPD

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		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

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

No signs/symptoms info available.