MCID: MRC004
MIFTS: 39

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 45 24
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 45 65
 
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 45

Characteristics:

HPO:

61
Inheritance: sporadic


Classifications:



External Ids:

UMLS65 C1832817

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 mayer-rokitansky-küster-hauser syndrome type 2 and klippel-feil syndrome 1, autosomal dominant, and has symptoms including abnormal localization of kidney, renal hypoplasia/aplasia and short stature. 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 kidney, uterus 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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HPO human phenotypes related to Murcs Association:

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

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
Kidney, Uterus, Bone, Pancreas, Prostate, T cells, Temporal lobe

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:00053698.8TBX3, TBX5, TP63
2MP:00053808.5TBX3, TBX5, TP63, WNT4
3MP:00028738.4TBX3, TBX5, TP63, WNT4
4MP:00053718.4TBX3, TBX5, TP63, WNT4
5MP:00053788.2TBX3, TBX5, TP63, WNT4

Publications for Murcs Association

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Articles related to Murcs Association:

(show all 30)
idTitleAuthorsYear
1
A review of the use of angiotensin receptor blockers for the prevention of cardiovascular events in patients with essential hypertension without compelling indications. (23585649)
2013
2
Brain-derived neurotrophic factor expression in dorsal root ganglia of a lumbar spinal stenosis model in rats. (24127005)
2013
3
The C-terminal tail domain of metavinculin, vinculin's splice variant, severs actin filaments. (22613835)
2012
4
Priapism as the initial manifestation of a penile and lower limb cutaneous metastasis of prostate adenocarcinoma with low serum PSA level. (22700763)
2012
5
Pharmacokinetics of oral ibuprofen for patent ductus arteriosus closure in preterm infants. (21840880)
2012
6
Urodynamic effects of propiverine in children and adolescents with neurogenic bladder: results of a prospective long-term study. (21907623)
2012
7
Anti-PL7 antisynthetase syndrome under interferon therapy. (20851661)
2011
8
Genetic loci influencing kidney function and chronic kidney disease. (20383145)
2010
9
Preferred characteristics of vaginal microbicides in women with bacterial vaginosis. (19630538)
2009
10
Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia. (19471915)
2009
11
In vitro metabolic stability of obestatin: kinetics and identification of cleavage products. (18602197)
2008
12
Adiponectin, T-cadherin and tumour necrosis factor-alpha in damaged cardiomyocytes from autopsy specimens. (15790136)
2005
13
Influence of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, B vitamins and other factors on plasma homocysteine and risk of thromboembolic disease in Chinese. (16379339)
2005
14
The first homozygous mutation (S226I) in the highly-conserved WSXWS- like motif of the GH receptor causing Laron syndrome: suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. (14678285)
2004
15
Huge cystic lymphangioma of the pancreas: report of a case. (11510617)
2001
16
Sequential immunohistochemical p53 expression in biopsies of oral lichen planus undergoing malignant evolution. (11271627)
2001
17
Correlation of type I insulin-like growth factor receptor (IGF-I-R) and insulin receptor-related receptor (IRR) messenger RNA levels in tumor cell lines from pediatric tumors of neuronal origin. (10535406)
1999
18
Urinary excretion of albumin in adolescents with type 1 diabetes: persistent versus intermittent microalbuminuria and relationship to duration of diabetes, sex, and metabolic control. (10480525)
1999
19
Differential expression of a tumor necrosis factor receptor-related transcript in gestational trophoblastic diseases in women. (9716562)
1998
20
Prostaglandin E2 and IL-4 provide naive CD4+ T cells with distinct inhibitory signals for the priming of IFN-gamma production. (9344500)
1997
21
Renal protective effects of enalapril in hypertensive NIDDM: role of baseline albuminuria. (8158885)
1994
22
Cloning and characterization of differentially expressed genes from in vitro-grown 'amastigotes' of Leishmania donovani. (8479459)
1993
23
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). (1750489)
1991
24
Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images. (3661912)
1987
25
Postural hypotension in the elderly. (6481057)
1984
26
Experimental Colorado tick fever virus infection in Colorado mammals. (6259958)
1981
27
Temporal lobe seizures and exhibitionism. (4187065)
1969
28
Studies on favism. 3. Studies on the physiological activites of vicine in vitro. (13930697)
1962
29
Neuro-anatomical site in tick paralysis. (13493625)
1958
30
Tetanus neonatorum; a report of thirty two cases. (13533738)
1958

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 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle cell differentiationGO:00550079.8TBX3, TBX5
2forelimb morphogenesisGO:00351369.8TBX3, TBX5
3positive regulation of osteoblast differentiationGO:00456699.4TP63, WNT4
4cell agingGO:00075699.4TBX3, TP63
5skeletal system developmentGO:00015019.3TBX3, TP63
6negative regulation of cell migrationGO:00303369.2TBX5, WNT4
7transcription initiation from RNA polymerase II promoterGO:00063679.2TBX5, TP63
8embryonic limb morphogenesisGO:00303269.0TBX5, TP63
9negative regulation of transcription, DNA-templatedGO:00458928.6TBX3, TP63, WNT4
10positive regulation of transcription, DNA-templatedGO:00458938.3TBX3, TBX5, TP63, WNT4

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