Cytoscape Web
Click node...

MURCS association
1 OMIM reference -
3 associated genes
20 connected diseases
11 signs/symptoms
Disease Type of connection
Classic Mayer-Rokitansky-Küster-Hauser syndrome
17q12 microdeletion syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant spondylocostal dysostosis
Familial prostate cancer
Renal cysts and diabetes syndrome
Melanoma of soft part
Agnathia - holoprosencephaly - situs inversus
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Syndromic microphthalmia type 5
Hyperinsulinism due to HNF1A deficiency
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
MODY syndrome
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Dehydratase deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
- Klippel-Feil deformity - conductive deafness - absent vagina
- MRKH syndrome type 2
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia
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 -
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
Gene symbol UniProt reference OMIM reference
HNF1B P35680189907
LHX1 P48742601999
TBX6 O95947602427
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