MCID: MRC004
MIFTS: 40

Murcs Association malady

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

Summaries for Murcs Association

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Murcs Association, also known as mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies, is related to holt-oram syndrome and mayer-rokitansky-kuster-hauser syndrome, and has symptoms including hearing loss/hypoacusia/deafness, scapula structural/position anomaly/congenital elevation/sprengel anomaly and anomalies of the ribs. An important gene associated with Murcs Association is LHX1 (LIM homeobox 1), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include kidney, uterus and bone, and related mouse phenotypes are renal/urinary system and reproductive system.

Description from OMIM:46 601076

Aliases & Classifications for Murcs Association

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42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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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


Aliases & Descriptions:

murcs association 42 48 46 60
mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 42
mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia 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 60
mrkh syndrome type 2 48


External Ids:

OMIM46 601076
ICD10 via Orphanet26 Q87.8

Related Diseases for Murcs Association

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Murcs Association:



Diseases related to murcs association

Clinical Features for Murcs Association

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46OMIM, 48Orphanet
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Clinical features from OMIM:

601076

Clinical synopsis from OMIM:

601076

Symptoms:

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

Drugs & Therapeutics for Murcs Association

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Murcs Association

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Anatomical Context for Murcs Association

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Murcs Association:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7HNF1B, LHX1, TBX6, TP63
2MP:00053898.5TP63, TBX3, TBX6, LHX1
3MP:00053798.4TP63, TBX3, LHX1, HNF1B
4MP:00053718.2TP63, TBX5, TBX3, TBX6
5MP:00053788.0HNF1B, LHX1, TBX6, TBX3, TP63
6MP:00053908.0TBX6, TBX3, TBX5, TP63
7MP:00028737.8LHX1, TBX3, TBX5, TP63
8MP:00053857.8LHX1, TBX6, TBX3, TBX5, TP63
9MP:00053807.3TP63, TBX5, TBX3, TBX6, LHX1, HNF1B
10MP:00107687.3HNF1B, LHX1, TBX6, TBX3, TBX5, TP63

Publications for Murcs Association

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Genetic Variations for Murcs Association

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Expression for genes affiliated with Murcs Association

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database
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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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GO Terms for genes affiliated with Murcs Association

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16Gene Ontology
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Cellular components related to Murcs Association according to GeneCards/GeneDecks:

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

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pronephros developmentGO:0487939.8LHX1, HNF1B
2kidney developmentGO:0018229.7LHX1, HNF1B
3anterior/posterior pattern specificationGO:0099529.6HNF1B, LHX1
4cell agingGO:0075699.6TBX3, TP63
5anatomical structure morphogenesisGO:0096539.5TBX6, LHX1
6organ morphogenesisGO:0098879.4TBX3, LHX1
7pattern specification processGO:0073899.4TBX5, LHX1
8embryonic limb morphogenesisGO:0303269.4TP63, TBX5
9skeletal system developmentGO:0015019.3TP63, TBX3
10forelimb morphogenesisGO:0351369.3TBX5, TBX3
11embryonic forelimb morphogenesisGO:0351159.3TBX5, TBX3
12negative regulation of transcription, DNA-dependentGO:0458929.1LHX1, TBX3, TP63
13negative regulation of apoptotic processGO:0430669.0TP63, TBX3, HNF1B
14negative regulation of transcription from RNA polymerase II promoterGO:0001228.6HNF1B, TBX6, TBX3, TP63
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.3HNF1B, TBX5, TP63
16positive regulation of transcription, DNA-dependentGO:0458937.9TP63, TBX5, TBX3, LHX1, HNF1B

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.4TP63, HNF1B
2RNA polymerase II transcription factor bindingGO:0010859.4TBX3, TBX6
3RNA polymerase II activating transcription factor bindingGO:0011029.3TBX3, TBX6
4DNA bindingGO:0036777.9HNF1B, TBX6, TBX5, TP63
5sequence-specific DNA bindingGO:0435657.6HNF1B, LHX1, TBX3, TBX5, TP63
6sequence-specific DNA binding transcription factor activityGO:0037007.2TP63, TBX5, TBX3, TBX6, 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet