ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
No signs/symptoms info

Mitochondrial trifunctional protein deficiency

Autosomal dominant macrothrombocytopenia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HADHB	(0.49)	TUBB1

Citations in the biomedical literature:

Mitochondrial trifunctional protein deficiency		Autosomal dominant macrothrombocytopenia
	Synonym(s): - TFP deficiency - TFPD		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic 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: <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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D024741		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.