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Syndromic microphthalmia type 5

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

PROTEIN INTERACTIONS: 1

MURCS association

1 OMIM reference -
3 associated genes
11 signs/symptoms

Syndromic microphthalmia type 5

MURCS association

OTX2	(UniProt - OMIM)		HNF1B	(UniProt - OMIM)
			LHX1	(UniProt - OMIM)
			TBX6	(UniProt - OMIM)


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

Citations in the biomedical literature:

Syndromic microphthalmia type 5		MURCS association
	Synonym(s): - MCOPS5 - Syndromic microphthalmia/anophthalmia due to OTX2 mutation		Synonym(s): - Klippel-Feil deformity - conductive deafness - absent vagina - MRKH syndrome type 2 - Mayer-Rokitansky-KÃ¼ster-Hauser syndrome type 2 - Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

MURCS association
	Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Ectopic / horseshoe / fused kidneys - Late puberty / hypogonadism / hypogenitalism - Low hair line (back) - Short neck - Short stature / dwarfism / nanism - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of the ribs - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Hearing loss / hypoacusia / deafness
Syndromic microphthalmia type 5
(no data available)