MCID: MRC004
MIFTS: 38

Murcs Association malady

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

Summaries for Murcs Association

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NIH Rare Diseases:41 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). Affiliated tissues include kidney, uterus and bone, and related mouse phenotypes are limbs/digits/tail and muscle.

Aliases & Classifications for Murcs Association

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Murcs Association, Aliases & Descriptions:

Name: Murcs Association 41 47
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 41 60
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 41 47
Mrkh Syndrome Type 2 41 47
 
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 41
Müllerian Duct Aplasia-Renal Dysplasia-Cervical Somite Dysplasia Anomalies Syndrome 47
Müllerian Aplasia-Renal Aplasia-Cervicothoracic Somite Dysplasia Syndrome 41
Klippel-Feil Deformity - Conductive Deafness - Absent Vagina 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
mayer-rokitansky-küster-hauser syndrome type 2:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Antenatal; Age of death: normal life expectancy


External Ids:

Orphanet47 2578
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1832817

Related Diseases for Murcs Association

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Diseases related to Murcs Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1encephalocele10.2
2klippel-feil syndrome 1, autosomal dominant10.1
3vacterl association10.1
4frontal lobe epilepsy10.1
5amenorrhea10.1
6patent ductus arteriosus10.1
7anovulation10.1
8gonadal dysgenesis10.1
9hyperostosis10.1
10mayer-rokitansky-kuster-hauser syndrome10.1
11neurenteric cyst10.1
12occipital encephalocele10.1
13digeorge syndrome9.8TBX3, TBX5
14ulnar-mammary syndrome9.8TBX3, TBX5
15holt-oram syndrome9.7TBX5, TBX3

Graphical network of diseases related to Murcs Association:



Diseases related to murcs association

Symptoms for Murcs Association

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Symptoms:

 47 (show all 11)
  • short neck
  • vertebral segmentation anomaly/hemivertebrae
  • low hair line (back)
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • uterine/uterus/fallopian tubes anomalies
  • late puberty/hypogonadism/hypogenitalism
  • short stature/dwarfism/nanism
  • anomalies of the ribs
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • hearing loss/hypoacusia/deafness

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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Drug clinical trials:

Search ClinicalTrials for Murcs Association

Search 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:

31
Kidney, Uterus, Bone

Animal Models for Murcs Association or affiliated genes

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MGI Mouse Phenotypes related to Murcs Association:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7TBX3, TBX5, TP63
2MP:00053698.7TBX3, TBX5, TP63
3MP:00053908.6TP63, TBX5, TBX3
4MP:00053808.6TBX3, TBX5, TP63
5MP:00028738.5TP63, TBX5, TBX3
6MP:00107688.5TBX3, TBX5, TP63
7MP:00053858.4TBX3, TBX5, TP63
8MP:00053768.2TP63, TBX5, TBX3

Publications for Murcs Association

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Articles related to Murcs Association:

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

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GO Terms for genes affiliated with Murcs Association

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Cellular components related to Murcs Association according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1TBX5, TP63

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell agingGO:00075699.5TBX3, TP63
2skeletal system developmentGO:00015019.4TBX3, TP63
3negative regulation of transcription, DNA-templatedGO:00458929.3TBX3, TP63
4forelimb morphogenesisGO:00351369.3TBX3, TBX5
5embryonic limb morphogenesisGO:00303269.2TP63, TBX5
6negative regulation of apoptotic processGO:00430669.2TP63, TBX3
7embryonic forelimb morphogenesisGO:00351159.2TBX3, TBX5
8positive regulation of transcription from RNA polymerase II promoterGO:00459449.1TBX5, TP63
9negative regulation of transcription from RNA polymerase II promoterGO:00001229.0TBX3, TP63
10positive regulation of transcription, DNA-templatedGO:00458938.7TP63, TBX5, TBX3

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.5TBX3, TBX5, TP63
2sequence-specific DNA bindingGO:00435658.2TBX3, TBX5, TP63

Products for genes affiliated with Murcs Association

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Sources for Murcs Association

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet