Cytoscape Web
Click node...

MITF-related melanoma and renal cell carcinoma predisposition syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Syndromic microphthalmia type 5
1 OMIM reference -
1 associated gene
No signs/symptoms info
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Syndromic microphthalmia type 5

MITF
(UniProt - OMIM)
 OTX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MITF
(0.52)
OTX2


Citations in the biomedical literature:


MITF-related melanoma and renal cell carcinoma predisposition syndrome
MITF
Syndromic microphthalmia type 5
OTX2



MITF-related melanoma and renal cell carcinoma predisposition syndrome
Syndromic microphthalmia type 5

Synonym(s):
(no synonyms)

Synonym(s):
- MCOPS5
- Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.