ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Multiple paragangliomas associated with polycythemia

Rubinstein-Taybi syndrome due to CREBBP mutations


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPAS1	(0.63)	CREBBP

Citations in the biomedical literature:

Multiple paragangliomas associated with polycythemia		Rubinstein-Taybi syndrome due to CREBBP mutations
	Synonym(s): - Multiple paragangliomas associated with erythrocytosis - Paraganglioma - somatostatinoma - polycythemia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare endocrine disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic		Epidemiological data: (no data available)

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

No signs/symptoms info available.