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Syndromic microphthalmia type 5

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

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Syndromic microphthalmia type 5

Well-differentiated liposarcoma

OTX2	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
			HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OTX2	(0.7)	CDK4

Citations in the biomedical literature:

Syndromic microphthalmia type 5		Well-differentiated liposarcoma
	Synonym(s): - MCOPS5 - Syndromic microphthalmia/anophthalmia due to OTX2 mutation		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

Well-differentiated liposarcoma
	Very frequent - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Functional anomalies of the kidney and the urinary tract - Intestinal transit disorder
Syndromic microphthalmia type 5
(no data available)