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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Syndromic microphthalmia type 5
Classic Mayer-Rokitansky-Küster-Hauser syndrome

OTX2 HNF1B
LHX1
TBX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
OTX2
(0.81)
LHX1



Citations in the biomedical literature:


Syndromic microphthalmia type 5
OTX2
Classic Mayer-Rokitansky-Küster-Hauser syndrome
HNF1B LHX1 TBX6



Syndromic microphthalmia type 5
Classic Mayer-Rokitansky-Küster-Hauser syndrome

Synonym(s):
- MCOPS5
- Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Synonym(s):
- Classic MRKH syndrome
- Classic Rokitansky syndrome
- MRKH syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Rokitansky sequence

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital disease

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

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: 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.