ODCs

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

PROTEIN INTERACTIONS: 1

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

Autosomal dominant macrothrombocytopenia

Pyruvate dehydrogenase E3-binding protein deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTN1	(0.63)	PDHX

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Pyruvate dehydrogenase E3-binding protein deficiency
	Synonym(s): (no synonyms)		Synonym(s): - 2-oxoglutarate complex deficiency - Branched chain alpha-ketoacid dehydrogenase complex deficiency - Diaphorase deficiency - Dihydrolipoyl dehydrogenase deficiency - Glycine cleavage system L protein deficiency - Lipoamide dehydrogenase deficiency - Pyruvate dehydrogenase complex component E3 deficiency - Pyruvate dehydrogenase protein X component deficiency

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

No signs/symptoms info available.