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

Ketoacidosis due to beta-ketothiolase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TUBB1	(0.49)	ACAT1

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Ketoacidosis due to beta-ketothiolase deficiency
	Synonym(s): (no synonyms)		Synonym(s): - Alpha-methyl-acetoacetyl-CoA thiolase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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.