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Classic Mayer-Rokitansky-KÃ¼ster-Hauser syndrome

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

COMMON GENES: 3

MURCS association

1 OMIM reference -
3 associated genes
11 signs/symptoms

Classic Mayer-Rokitansky-KÃ¼ster-Hauser syndrome

MURCS association

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


COMMON GENES	HNF1B LHX1 TBX6

Citations in the biomedical literature:

Classic Mayer-Rokitansky-KÃ¼ster-Hauser syndrome		MURCS association
	Synonym(s): - Classic MRKH syndrome - Classic Rokitansky syndrome - MRKH syndrome type 1 - Mayer-Rokitansky-KÃ¼ster-Hauser syndrome type 1 - Rokitansky sequence		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 developmental defect during embryogenesis - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare renal disease - Rare urogenital 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: unknown 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
Classic Mayer-Rokitansky-KÃ¼ster-Hauser syndrome
(no data available)