Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)

Alias:
Mrkh Syndrome
Rokitansky Syndrome
Congenital Absence of the Uterus and Vagina
Rokitansky Kuster Hauser Syndrome
Mullerian Aplasia
Mrkh Anomaly
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida
Congenital Absence of Uterus and Vagina
Mayer-Rokitansky-Küster-Hauser Syndrome
Von Mayer-Rokitansky-Kuster Anomaly
Rokitansky-Kuster-Hauser Syndrome
Aplasia of the Mullerian Ducts
Mullerian Aplasia/dysgenesis
Genital Renal Ear Syndrome
Mullerian Duct Failure
Mullerian Dysgenesis
Rokitansky Sequence
Mullerian Agenesis
Müllerian Agenesis
Rkh Syndrome
Mrk Anomaly
Mrkh
Cauv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mayer-Rokitansky-Kuster-Hauser Syndrome, also known as mrkh syndrome, is related to mayer-rokitansky-kuster-hauser syndrome type 1 and gonadal dysgenesis. An important gene associated with Mayer-Rokitansky-Kuster-Hauser Syndrome is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are WNT Signaling and Human Embryonic Stem Cell Pluripotency. The drugs Tacrolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include uterus and cervix, and related phenotypes are aplasia of the uterus and hypoplasia of the vagina

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-5/10000
19
163
33

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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