MCID: MRC004
MIFTS: 31

Murcs Association malady

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

Aliases & Classifications for Murcs Association

Aliases & Descriptions for Murcs Association:

Name: Murcs Association 50 29
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 50 69
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 50

Classifications:



Summaries for Murcs Association

NIH Rare Diseases : 50 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 mayer-rokitansky-kuster-hauser syndrome and mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies. An important gene associated with Murcs Association is TBX3 (T-Box 3), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include uterus, kidney and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and embryo

Related Diseases for Murcs Association

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



Diseases related to Murcs Association

Symptoms & Phenotypes for Murcs Association

GenomeRNAi Phenotypes related to Murcs Association according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 WNT4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.53 TBX5 WNT4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.53 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.53 WNT4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 TBX5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.53 WNT4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.53 WNT4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.53 TBX5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 TBX5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.53 WNT4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.53 WNT4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 WNT4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.53 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.53 TBX5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.53 WNT4
16 Decreased viability in esophageal squamous lineage GR00235-A 9.26 WNT4 TBX3 TBX5 TP63

MGI Mouse Phenotypes related to Murcs Association:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 TBX3 TBX5 TP63 WNT4
2 limbs/digits/tail MP:0005371 9.26 TBX3 TBX5 TP63 WNT4
3 normal MP:0002873 8.92 TBX3 TBX5 TP63 WNT4

Drugs & Therapeutics for Murcs Association

Search Clinical Trials , NIH Clinical Center for Murcs Association

Genetic Tests for Murcs Association

Genetic tests related to Murcs Association:

id Genetic test Affiliating Genes
1 Murcs Association 29

Anatomical Context for Murcs Association

MalaCards organs/tissues related to Murcs Association:

39
Uterus, Kidney, Bone

Publications for Murcs Association

Articles related to Murcs Association:

(show all 31)
id Title Authors Year
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
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. ( 23476832 )
2013
4
Absence of WNT4 gene mutation in a patient with MURCS association. ( 24356390 )
2013
5
MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve. ( 24974500 )
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
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). ( 18726671 )
2008
9
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. ( 18049074 )
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
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
MURCS association and hypothalamic anovulation. ( 1523342 )
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
MURCS association with additional congenital anomalies. ( 3510965 )
1986
27
Does MURCS association represent an actual nonrandom complex of malformations? ( 3522046 )
1986
28
The MURCS association. Clinical, radiological, endocrinological and familial data in a 40-year old patient. ( 3099147 )
1986
29
Endocrine evaluation in a patient with MURCS association and ovarian agenesis. ( 3732586 )
1986
30
MURCS association. ( 3759079 )
1986
31
The MURCS association: MA1llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. ( 469663 )
1979

Variations for Murcs Association

Expression for Murcs Association

Search GEO for disease gene expression data for Murcs Association.

Pathways for Murcs Association

GO Terms for Murcs Association

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.65 TBX3 TP63 WNT4
2 skeletal system development GO:0001501 9.52 TBX3 TP63
3 animal organ morphogenesis GO:0009887 9.51 TBX3 TP63
4 negative regulation of cell migration GO:0030336 9.49 TBX5 WNT4
5 positive regulation of osteoblast differentiation GO:0045669 9.46 TP63 WNT4
6 multicellular organism development GO:0007275 9.46 TBX3 TBX5 TP63 WNT4
7 embryonic limb morphogenesis GO:0030326 9.43 TBX5 TP63
8 pattern specification process GO:0007389 9.4 TBX5 TP63
9 embryonic forelimb morphogenesis GO:0035115 9.37 TBX3 TBX5
10 cardiac muscle cell differentiation GO:0055007 9.32 TBX3 TBX5
11 cell aging GO:0007569 9.26 TBX3 TP63
12 forelimb morphogenesis GO:0035136 8.96 TBX3 TBX5
13 positive regulation of transcription, DNA-templated GO:0045893 8.92 TBX3 TBX5 TP63 WNT4

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.13 TBX3 TBX5 TP63
2 sequence-specific DNA binding GO:0043565 8.8 TBX3 TBX5 TP63

Sources for Murcs Association

3 CDC
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70 UMLS via Orphanet
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