MCID: MRC004
MIFTS: 33

Murcs Association malady

Categories: Rare diseases, Reproductive diseases, Nephrological diseases, Ear diseases

Aliases & Classifications for Murcs Association

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Aliases & Descriptions for Murcs Association:

Name: Murcs Association 46 25
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 46 66
 
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 46

Classifications:



Summaries for Murcs Association

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NIH Rare Diseases:46 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 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies and mayer-rokitansky-kuster-hauser syndrome. An important gene associated with Murcs Association is TBX3 (T-Box 3), and among its related pathways are Signaling pathways regulating pluripotency of stem cells and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include uterus, kidney and bone, and related mouse phenotypes are muscle and embryo.

Related Diseases for Murcs Association

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Graphical network of the top 20 diseases related to Murcs Association:



Diseases related to murcs association

Symptoms for Murcs Association

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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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Genetic tests related to Murcs Association:

id Genetic test Affiliating Genes
1 Murcs Association25

Anatomical Context for Murcs Association

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MalaCards organs/tissues related to Murcs Association:

34
Uterus, Kidney, Bone

Animal Models for Murcs Association or affiliated genes

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MGI Mouse Phenotypes related to Murcs Association:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9TBX3, TBX5, TP63
2MP:00053808.4TBX3, TBX5, TP63, WNT4
3MP:00028738.2TBX3, TBX5, TP63, WNT4
4MP:00053788.2TBX3, TBX5, TP63, WNT4
5MP:00053718.1TBX3, TBX5, TP63, WNT4

Publications for Murcs Association

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Articles related to Murcs Association:

(show all 31)
idTitleAuthorsYear
1
The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report. (26329962)
2015
2
MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder. (27625874)
2014
3
Absence of WNT4 gene mutation in a patient with MURCS association. (24356390)
2013
4
MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve. (24974500)
2013
5
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. (23476832)
2013
6
Mayer-Rokitansky-Kuster-Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis. (24293887)
2012
7
Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. (19213024)
2009
8
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. (18049074)
2008
9
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)
2008
10
A female infant who had both complete VACTERL association and MURCS association: report of a case. (17879038)
2007
11
Intractable cryptogenic frontal lobe epilepsy in a patient with MURCS association. (16987742)
2006
12
MURCS association. (15280617)
2004
13
MURCS association and rectovestibular fistula: case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty. (12596120)
2003
14
MURCS association with duplicated thumb. (12030898)
2002
15
MURCS association with encephalocele: report of a second case. (10649794)
2000
16
Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. (10569454)
1999
17
MURCS association: case report and review. (8818954)
1996
18
Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. (8741919)
1996
19
MURCS association: ultrasonographic findings and pathologic correlation. (8947863)
1996
20
MURCS association--a review of 7 cases. (1303407)
1992
21
MURCS association and hypothalamic anovulation. (1523342)
1992
22
VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism? (1415331)
1992
23
Congenital corneal anaesthesia and the MURCS association: a case report. (2451534)
1988
24
MURCS Association. Primary amenorrhea. (3692590)
1987
25
The MURCS association. (3591868)
1987
26
The MURCS association. Clinical, radiological, endocrinological and familial data in a 40-year old patient. (3099147)
1986
27
MURCS association. (3759079)
1986
28
MURCS association with additional congenital anomalies. (3510965)
1986
29
Does MURCS association represent an actual nonrandom complex of malformations? (3522046)
1986
30
Endocrine evaluation in a patient with MURCS association and ovarian agenesis. (3732586)
1986
31
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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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 12)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:003513610.0TBX3, TBX5
2cardiac muscle cell differentiationGO:00550079.9TBX3, TBX5
3embryonic forelimb morphogenesisGO:00351159.8TBX3, TBX5
4animal organ morphogenesisGO:00098879.5TBX3, TP63
5cell agingGO:00075699.4TBX3, TP63
6positive regulation of osteoblast differentiationGO:00456699.4TP63, WNT4
7pattern specification processGO:00073899.3TBX5, TP63
8negative regulation of cell migrationGO:00303369.3TBX5, WNT4
9skeletal system developmentGO:00015019.3TBX3, TP63
10embryonic limb morphogenesisGO:00303269.2TBX5, TP63
11negative regulation of transcription, DNA-templatedGO:00458928.7TBX3, TP63, WNT4
12positive regulation of transcription, DNA-templatedGO:00458938.2TBX3, 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:00037008.4TBX3, TBX5, TP63

Sources for Murcs Association

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet