ODCs

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

PROTEIN INTERACTIONS: 1

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

BAP1-related tumor predisposition syndrome

Methylmalonic acidemia with homocystinuria, type cblX


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BAP1	(0.89)	HCFC1

Citations in the biomedical literature:

BAP1-related tumor predisposition syndrome		Methylmalonic acidemia with homocystinuria, type cblX
	Synonym(s): - Tumor susceptibility linked to germline BAP1 mutations		Synonym(s): - Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX - Methylmalonic aciduria with homocystinuria, type cblX

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood 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: x-linked recessive

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

No signs/symptoms info available.