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
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000027) Azoospermia 28 / 7739
2
(HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
3
(HPO:0000086) Ectopic kidney 29 / 7739
4
(HPO:0000813) Bicornuate uterus 22 / 7739
5
(HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
6
(HPO:0100542) Abnormal localization of kidney Very frequent [Orphanet] 64 / 7739
7
(HPO:0000104) Renal agenesis 68 / 7739
8
(HPO:0000013) Hypoplasia of the uterus 21 / 7739
9
(HPO:0000204) Cleft upper lip 193 / 7739
10
(HPO:0000175) Cleft palate 349 / 7739
11
(HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
12
(HPO:0000347) Micrognathia 426 / 7739
13
(HPO:0000324) Facial asymmetry 57 / 7739
14
(HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
15
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
16
(HPO:0000405) Conductive hearing impairment 164 / 7739
17
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
18
(HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
19
(HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
20
(HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
21
(HPO:0000925) Abnormality of the vertebral column 20 / 7739
22
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
(HPO:0003745) Sporadic 131 / 7739
24
(OMIM) External ear defects 2 / 7739
25
(HPO:0002350) Cerebellar cyst 14 / 7739
26
(OMIM) Absent-hypoplastic uterus 1 / 7739
27
(OMIM) Cervicothoracic vertebral defects (especially C5-T1) 1 / 7739
28
(OMIM) Klippel-Feil anomaly 3 / 7739
29
(OMIM) Upper limb defects 1 / 7739
30
(OMIM) Absent proximal 2/3 of vagina 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...