MCID: MRC004
MIFTS: 33

Murcs Association malady

Rare diseases, Reproductive diseases, Nephrological diseases, Ear diseases categories

Aliases & Classifications for Murcs Association

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Aliases & Descriptions for Murcs Association:

Name: Murcs Association 45
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 45 65
 
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 45


Classifications:



Summaries for Murcs Association

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NIH Rare Diseases:45 Murcs association stands for (mu)llerian, (r)enal, (c)ervicothoracic (s)omite abnormalities and is a developmental disorder that primarily affects the reproductive and urinary systems.  most individuals with murcs association are female, although males can also have this condition.  females with murcs association can have an absent or abnormally shaped uterus. in rare cases, the vagina is also affected. both males and females with murcs association can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet). additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. these symptoms may vary from person to person.  murcs association is present at birth but may not be noticed until after puberty, especially when an affected female does not receive her first period.  this condition does not alter a person’s life expectancy. last updated: 4/6/2011

MalaCards based summary: Murcs Association, also known as klippel-feil deformity, conductive deafness, and absent vagina, is related to encephalocele and klippel-feil syndrome 1, autosomal dominant, and has symptoms including abnormality of female internal genitalia, short neck and low posterior hairline. An important gene associated with Murcs Association is TBX3 (T-Box 3), and among its related pathways is Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include uterus, kidney and bone, and related mouse phenotypes are muscle and normal.

Related Diseases for Murcs Association

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Graphical network of diseases related to Murcs Association:



Diseases related to murcs association

Symptoms for Murcs Association

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HPO human phenotypes related to Murcs Association:

(show all 26)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 short neck hallmark (90%) HP:0000470
3 low posterior hairline hallmark (90%) HP:0002162
4 vertebral segmentation defect hallmark (90%) HP:0003422
5 short stature hallmark (90%) HP:0004322
6 renal hypoplasia/aplasia hallmark (90%) HP:0008678
7 abnormal localization of kidney hallmark (90%) HP:0100542
8 abnormality of the ribs typical (50%) HP:0000772
9 sprengel anomaly typical (50%) HP:0000912
10 hearing impairment occasional (7.5%) HP:0000365
11 hypoplasia of the uterus HP:0000013
12 azoospermia HP:0000027
13 ectopic kidney HP:0000086
14 renal agenesis HP:0000104
15 cleft palate HP:0000175
16 cleft upper lip HP:0000204
17 facial asymmetry HP:0000324
18 micrognathia HP:0000347
19 conductive hearing impairment HP:0000405
20 abnormality of the ribs HP:0000772
21 bicornuate uterus HP:0000813
22 sprengel anomaly HP:0000912
23 abnormality of the vertebral column HP:0000925
24 cerebellar cyst HP:0002350
25 sporadic HP:0003745
26 short stature HP:0004322

Drugs & Therapeutics for Murcs Association

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Murcs Association

Genetic Tests for Murcs Association

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Anatomical Context for Murcs Association

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MalaCards organs/tissues related to Murcs Association:

33
Uterus, Kidney, Bone

Animal Models for Murcs Association or affiliated genes

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MGI Mouse Phenotypes related to Murcs Association:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5TBX3, TBX5, TP63
2MP:00028738.2TBX3, TBX5, TP63, WNT4
3MP:00053718.2TBX3, TBX5, TP63, WNT4
4MP:00053807.9TBX3, TBX5, TP63, WNT4

Publications for Murcs Association

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Articles related to Murcs Association:

(show all 30)
idTitleAuthorsYear
1
The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report. (26329962)
2015
2
Absence of WNT4 gene mutation in a patient with MURCS association. (24356390)
2013
3
MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve. (24974500)
2013
4
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. (23476832)
2013
5
Mayer-Rokitansky-Kuster-Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis. (24293887)
2012
6
Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. (19213024)
2009
7
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)
2008
8
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. (18049074)
2008
9
A female infant who had both complete VACTERL association and MURCS association: report of a case. (17879038)
2007
10
Intractable cryptogenic frontal lobe epilepsy in a patient with MURCS association. (16987742)
2006
11
MURCS association. (15280617)
2004
12
MURCS association and rectovestibular fistula: case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty. (12596120)
2003
13
MURCS association with duplicated thumb. (12030898)
2002
14
MURCS association with encephalocele: report of a second case. (10649794)
2000
15
Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. (10569454)
1999
16
MURCS association: case report and review. (8818954)
1996
17
Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. (8741919)
1996
18
MURCS association: ultrasonographic findings and pathologic correlation. (8947863)
1996
19
MURCS association--a review of 7 cases. (1303407)
1992
20
MURCS association and hypothalamic anovulation. (1523342)
1992
21
VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism? (1415331)
1992
22
Congenital corneal anaesthesia and the MURCS association: a case report. (2451534)
1988
23
MURCS Association. Primary amenorrhea. (3692590)
1987
24
The MURCS association. (3591868)
1987
25
MURCS association. (3759079)
1986
26
MURCS association with additional congenital anomalies. (3510965)
1986
27
Does MURCS association represent an actual nonrandom complex of malformations? (3522046)
1986
28
Endocrine evaluation in a patient with MURCS association and ovarian agenesis. (3732586)
1986
29
The MURCS association. Clinical, radiological, endocrinological and familial data in a 40-year old patient. (3099147)
1986
30
The MURCS association: MA1llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. (469663)
1979

Variations for Murcs Association

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Expression for genes affiliated with Murcs Association

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Search GEO for disease gene expression data for Murcs Association.

Pathways for genes affiliated with Murcs Association

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Pathways related to Murcs Association according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TBX3, WNT4

GO Terms for genes affiliated with Murcs Association

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Biological processes related to Murcs Association according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:00351369.9TBX3, TBX5
2embryonic forelimb morphogenesisGO:00351159.9TBX3, TBX5
3cardiac muscle cell differentiationGO:00550079.8TBX3, TBX5
4negative regulation of cell migrationGO:00303369.7TBX5, WNT4
5cell agingGO:00075699.6TBX3, TP63
6pattern specification processGO:00073899.5TBX5, TP63
7positive regulation of osteoblast differentiationGO:00456699.5TP63, WNT4
8transcription initiation from RNA polymerase II promoterGO:00063679.4TBX5, TP63
9embryonic limb morphogenesisGO:00303269.3TBX5, TP63
10organ morphogenesisGO:00098879.3TBX3, TP63
11skeletal system developmentGO:00015019.1TBX3, TP63
12negative regulation of transcription, DNA-templatedGO:00458928.5TBX3, TP63, WNT4
13positive regulation of transcription, DNA-templatedGO:00458938.1TBX3, TBX5, TP63, WNT4

Molecular functions related to Murcs Association according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435658.5TBX3, TBX5, TP63
2transcription factor activity, sequence-specific DNA bindingGO:00037008.2TBX3, TBX5, TP63

Sources for Murcs Association

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet