MURCS association
General Information (adopted from Orphanet):
Synonyms, Signs: |
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II MRKH, TYPE II KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA MURCS MRKH syndrome type 2 Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia Mayer-Rokitansky-Küster-Hauser syndrome type 2 Klippel-Feil deformity - conductive deafness - absent vagina |
Number of Symptoms | 30 |
OrphanetNr: | 2578 |
OMIM Id: |
601076
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ICD-10: |
Q87.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
Age of onset: |
Antenatal Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Mayer-Rokitansky-Küster-Hauser syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare gynecologic or obstetric disease -Rare renal disease -Rare urogenital disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000027) | Azoospermia | 28 / 7739 | ||||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000086) | Ectopic kidney | 29 / 7739 | ||||
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(HPO:0000813) | Bicornuate uterus | 22 / 7739 | ||||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0100542) | Abnormal localization of kidney | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000104) | Renal agenesis | 68 / 7739 | ||||
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(HPO:0000013) | Hypoplasia of the uterus | 21 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0002162) | Low posterior hairline | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | 164 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000912) | Sprengel anomaly | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | External ear defects | 2 / 7739 | ||||
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(HPO:0002350) | Cerebellar cyst | 14 / 7739 | ||||
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(OMIM) | Absent-hypoplastic uterus | 1 / 7739 | ||||
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(OMIM) | Cervicothoracic vertebral defects (especially C5-T1) | 1 / 7739 | ||||
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(OMIM) | Klippel-Feil anomaly | 3 / 7739 | ||||
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(OMIM) | Upper limb defects | 1 / 7739 | ||||
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(OMIM) | Absent proximal 2/3 of vagina | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Duncan et al. (1979) reported 2 female patients and 28 others in the literature with the combination of mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS). The authors postulated an alteration affecting blastemas of the ... |