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Classic Mayer-Rokitansky-Küster-Hauser syndrome
1 OMIM reference -
3 associated genes
20 connected diseases
No signs/symptoms info
Disease Type of connection
MURCS association
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):
- Classic MRKH syndrome
- Classic Rokitansky syndrome
- MRKH syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Rokitansky sequence
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 -
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
Gene symbol UniProt reference OMIM reference
HNF1B P35680189907
LHX1 P48742601999
TBX6 O95947602427
No signs/symptoms info available.