ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Ocular albinism with congenital sensorineural deafness

Multiple paragangliomas associated with polycythemia

MITF	(UniProt - OMIM)		EPAS1	(UniProt - OMIM)
TYR	(UniProt - OMIM)


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

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Multiple paragangliomas associated with polycythemia
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): - Multiple paragangliomas associated with erythrocytosis - Paraganglioma - somatostatinoma - polycythemia

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

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

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

No signs/symptoms info available.