MCID: MRC004
MIFTS: 48

Murcs Association malady

Rare diseases, Nephrological diseases, Reproductive diseases, Fetal diseases, Ear diseases categories
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Summaries for Murcs Association

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NIH Rare Diseases:42 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 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies, is related to encephalocele and vacterl association, and has symptoms including short neck, vertebral segmentation anomaly/hemivertebrae and low hair line (back). An important gene associated with Murcs Association is TBX6 (T-box 6), and among its related pathways is Neural Crest Differentiation. The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and bone, and related mouse phenotypes are renal/urinary system and craniofacial.

Description from OMIM:46 601076

Aliases & Classifications for Murcs Association

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Murcs Association, Aliases & Descriptions:

Name: Murcs Association 42 48 46 62
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 42
Müllerian Aplasia-Renal Aplasia-Cervicothoracic Somite Dysplasia Syndrome 48
Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina 42
 
Klippel-Feil Deformity - Conductive Deafness - Absent Vagina 48
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 48
Rokitansky Kuster Hauser Syndrome 62
Mrkh Syndrome Type 2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
murcs association:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 601076
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1832817

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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Symptoms by clinical synopsis from OMIM:

601076

Clinical features from OMIM:

601076

Symptoms:

48 (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:

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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:

32
Kidney, Uterus, Bone

Animal Models for Murcs Association or affiliated genes

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MGI Mouse Phenotypes related to Murcs Association:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8LHX1, HNF1B, TP63, TBX6
2MP:00053828.8TP63, TBX3, LHX1
3MP:00053818.6TBX6, TBX3, TP63
4MP:00053798.5LHX1, TP63, HNF1B, TBX3
5MP:00053898.5TBX3, TP63, LHX1, TBX6
6MP:00053718.3TBX6, TBX3, TBX5, TP63
7MP:00053908.2TBX5, TP63, TBX3, TBX6
8MP:00053698.2HNF1B, TP63, TBX5, TBX3
9MP:00053788.1TBX6, HNF1B, TBX3, TP63, LHX1
10MP:00028738.1LHX1, TP63, TBX5, TBX3
11MP:00053768.0HNF1B, TBX5, TBX3, TP63
12MP:00053857.9LHX1, TP63, TBX5, TBX3, TBX6
13MP:00053807.4TP63, LHX1, TBX6, TBX3, TBX5, HNF1B
14MP:00107687.4LHX1, TP63, HNF1B, TBX5, TBX3, TBX6

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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Expression patterns in normal tissues for genes affiliated with Murcs Association

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Pathways for genes affiliated with Murcs Association

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Pathways related to Murcs Association according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TBX6, LHX1

Compounds for genes affiliated with Murcs Association

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Sources:
44Novoseek, 24HMDB
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Compounds related to Murcs Association according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid44 249.6TBX5, HNF1B, TP63

GO Terms for genes affiliated with Murcs Association

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Cellular components related to Murcs Association according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.3TBX5, HNF1B, TP63
2nucleusGO:0056347.1TBX6, TBX3, TBX5, HNF1B, TP63, LHX1

Biological processes related to Murcs Association according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pronephros developmentGO:0487939.8LHX1, HNF1B
2anatomical structure morphogenesisGO:0096539.7TBX6, LHX1
3anterior/posterior pattern specificationGO:0099529.6LHX1, HNF1B
4kidney developmentGO:0018229.6LHX1, HNF1B
5cell agingGO:0075699.6TBX3, TP63
6organ morphogenesisGO:0098879.4LHX1, TBX3
7pattern specification processGO:0073899.4TBX5, LHX1
8embryonic limb morphogenesisGO:0303269.4TBX5, TP63
9forelimb morphogenesisGO:0351369.3TBX3, TBX5
10embryonic forelimb morphogenesisGO:0351159.3TBX5, TBX3
11cell-cell signalingGO:0072679.2TBX5, LHX1
12negative regulation of transcription, DNA-templatedGO:0458929.1LHX1, TP63, TBX3
13skeletal system developmentGO:0015019.0TBX3, TP63
14negative regulation of transcription from RNA polymerase II promoterGO:0001228.7TP63, HNF1B, TBX3, TBX6
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.5TBX5, HNF1B, TP63
16positive regulation of transcription, DNA-templatedGO:0458937.8TBX3, TBX5, HNF1B, TP63, LHX1

Molecular functions related to Murcs Association according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:0010859.4TBX6, TBX3
2transcription regulatory region DNA bindingGO:0442129.4HNF1B, TP63
3RNA polymerase II activating transcription factor bindingGO:0011029.3TBX6, TBX3
4DNA bindingGO:0036777.9TBX6, TBX5, HNF1B, TP63
5sequence-specific DNA bindingGO:0435657.6TBX5, HNF1B, TP63, LHX1, TBX3
6sequence-specific DNA binding transcription factor activityGO:0037007.2TBX5, TBX3, TBX6, TP63, LHX1, HNF1B

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet