Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies (MURCS)

Alias:
Mrkh Syndrome Type 2
Murcs Association
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Atypical Mrkh Syndrome
Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina
Murcs
Mullerian Duct Aplasia, Unilateral Renal Aplasia, and Cervicothoracic Somite Dysplasia
Müllerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome
Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
Klippel-Feil Deformity - Conductive Deafness - Absent Vagina
Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii
Mrkh, Type Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies, also known as mrkh syndrome type 2, is related to renal hypodysplasia/aplasia 1 and vacterl association. An important gene associated with Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and WNT Signaling. Affiliated tissues include uterus and kidney, and related phenotypes are short neck and short stature
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Basic Information

Inheritance
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Prevalence
Related Gene
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Reference
MALACARDS
AD
Antenatal
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25
179
18

Medical Symptom

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Gene & Mutation

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References Literature

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