Murcs Association disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Murcs Association

Sources:
²⁷GTR, ⁴⁸NIH Rare Diseases, ⁶⁸UMLS
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Aliases & Descriptions for Murcs Association:

Name: Murcs Association ⁴⁸ ²⁷

Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina ⁴⁸ ⁶⁸

Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies ⁴⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases, Nephrological diseases, Ear diseases

See all MalaCards categories (disease lists)

Summaries for Murcs Association

Sources:
³⁶MalaCards, ⁴⁸NIH Rare Diseases
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NIH Rare Diseases:⁴⁸ 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 personâs 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 are Signaling pathways regulating pluripotency of stem cells and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include uterus, kidney and bone, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased viability in esophageal squamous lineage.

Related Diseases for Murcs Association

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases related to Murcs Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

id	Related Disease	Score	Top Affiliating Genes
1	mayer-rokitansky-kuster-hauser syndrome	11.2
2	mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	11.0
3	klippel-feil syndrome 1, autosomal dominant	10.8
4	syndactyly, type iv	9.9	TBX3, TBX5
5	pseudohypoparathyroidism ia	9.9	TBX3, TBX5
6	joubert syndrome 13	9.9	TBX3, TBX5
7	brachyolmia type 3	9.8	TBX3, TBX5
8	encephalocele	9.8
9	patent ductus arteriosus	9.6
10	amenorrhea	9.6
11	gonadal dysgenesis	9.6
12	epilepsy	9.6
13	hyperostosis	9.6
14	anovulation	9.6
15	situs inversus	9.6
16	neurenteric cyst	9.6
17	occipital encephalocele	9.6
18	renal hypoplasia	9.6
19	myasthenia gravis congenital	9.4	TBX3, TBX5, TP63, WNT4
20	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	9.4	TBX3, TBX5, TP63, WNT4

Graphical network of diseases related to Murcs Association:

Symptoms & Phenotypes for Murcs Association

Sources:
²⁶GenomeRNAi, ⁴¹MGI
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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-192	10.1	TBX5, WNT4
2	Decreased viability in esophageal squamous lineage	GR00235-A	8.9	TBX3, TBX5, TP63, WNT4

MGI Mouse Phenotypes related to Murcs Association according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	8.9	TBX3, TBX5, TP63, WNT4
2	limbs/digits/tail	MP:0005371	8.7	TBX3, TBX5, TP63, WNT4
3	normal	MP:0002873	8.0	TBX3, TBX5, TP63, WNT4

Drugs & Therapeutics for Murcs Association

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Murcs Association

Genetic Tests for Murcs Association

Sources:
²⁷GTR
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Genetic tests related to Murcs Association:

id	Genetic test	Affiliating Genes
1	Murcs Association²⁷

Anatomical Context for Murcs Association

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Murcs Association:

³⁶

Uterus, Kidney, Bone

Publications for Murcs Association

Sources:
⁵⁷PubMed
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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)	Akhter N.... Newaz M.	2015
2	MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder. (27625874)	Ekbote A.V.... Danda S.	2014
3	MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. (23476832)	Dabkowska-Huc A.... Pyrkosz A.	2013
4	Absence of WNT4 gene mutation in a patient with MURCS association. (24356390)	Shoar Z.... Suarez E.	2013
5	MURCS Association: a rare association with patent ductus arteriosus and bicuspid aortic valve. (24974500)	Ramakrishna .... Pipavat R.	2013
6	Mayer-Rokitansky-Kuster-Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis. (24293887)	Dasgupta S.... Kalra A.	2012
7	Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. (19213024)	Al Kaissi A.... Klaushofer K.	2009
8	Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)	Hofstetter G.... Janecke A.	2008
9	Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. (18049074)	Uliana V.... Nuti R.	2008
10	A female infant who had both complete VACTERL association and MURCS association: report of a case. (17879038)	Komura M.... Goishi K.	2007
11	Intractable cryptogenic frontal lobe epilepsy in a patient with MURCS association. (16987742)	Dericioglu N.... Saygi S.	2006
12	MURCS association. (15280617)	Balasubramanian S.... Shivakumar S.	2004
13	MURCS association and rectovestibular fistula: case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty. (12596120)	GA1nA9ar C.... Mir E.	2003
14	MURCS association with duplicated thumb. (12030898)	LA^pez A.G.... Devriendt K.	2002
15	MURCS association with encephalocele: report of a second case. (10649794)	Suri M.... Cox P.M.	2000
16	Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. (10569454)	Carranza-Lira S.... Martinez-ChAcquer J.C.	1999
17	MURCS association: case report and review. (8818954)	Braun-Quentin C.... Kotzot D.	1996
18	Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. (8741919)	Lin H.J.... Lachman R.S.	1996
19	MURCS association: ultrasonographic findings and pathologic correlation. (8947863)	Fernandez C.O.... Twickler D.M.	1996
20	MURCS association--a review of 7 cases. (1303407)	Mahajan P.... Bharucha B.A.	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)	Orstavik K.H.... Lie S.O.	1992
22	MURCS association and hypothalamic anovulation. (1523342)	Pablo MAcndez J.... DA-az L.	1992
23	Congenital corneal anaesthesia and the MURCS association: a case report. (2451534)	Esakowitz L.... Yates J.R.	1988
24	MURCS Association. Primary amenorrhea. (3692590)	Vaidya V.U.... Kumta N.B.	1987
25	The MURCS association. (3591868)	Duncan P.A.... Klein R.M.	1987
26	MURCS association with additional congenital anomalies. (3510965)	Greene R.A.... Iozzo R.V.	1986
27	Does MURCS association represent an actual nonrandom complex of malformations? (3522046)	Colavita N.... La Vecchia G.	1986
28	The MURCS association. Clinical, radiological, endocrinological and familial data in a 40-year old patient. (3099147)	Lo Iudice G.... D'Alessandro B.	1986
29	Endocrine evaluation in a patient with MURCS association and ovarian agenesis. (3732586)	Mendez J.P.... PAcrez-Palacios G.	1986
30	MURCS association. (3759079)	Zuppan C.... Berry R.	1986
31	The MURCS association: MA1llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. (469663)	Duncan P.A.... Addonizio J.C.	1979

Genes related to Murcs Association

Sources:
²¹GeneCards
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Genes related to Murcs Association:

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	TBX3	T-Box 3	27.60	GeneCards inferred via : Disorders, Publications (show sections)
2	TBX5	T-Box 5	27.60	GeneCards inferred via : Disorders, Publications (show sections)
3	TP63	Tumor Protein P63	27.60	GeneCards inferred via : Disorders, Publications (show sections)
4	WNT4	Wnt Family Member 4	27.60	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Murcs Association

Expression for genes affiliated with Murcs Association

Sources:
¹⁸Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Murcs Association.

Pathways for genes affiliated with Murcs Association

Sources:
³⁴KEGG, ⁵⁵PathCards, ⁵⁹R&D Systems
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Pathways related to Murcs Association according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Signaling pathways regulating pluripotency of stem cells³⁴	9.4	TBX3, WNT4
2	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	9.3	TBX5, WNT4
3	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	9.0	TBX5, TP63

GO Terms for genes affiliated with Murcs Association

Sources:
¹⁹Gene Ontology
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Biological processes related to Murcs Association according to GeneCards Suite gene sharing:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	cardiac muscle cell differentiation	GO:0055007	10.1	TBX3, TBX5
2	embryonic forelimb morphogenesis	GO:0035115	10.1	TBX3, TBX5
3	forelimb morphogenesis	GO:0035136	10.1	TBX3, TBX5
4	negative regulation of cell migration	GO:0030336	10.1	TBX5, WNT4
5	animal organ morphogenesis	GO:0009887	9.9	TBX3, TP63
6	cell aging	GO:0007569	9.9	TBX3, TP63
7	positive regulation of osteoblast differentiation	GO:0045669	9.8	TP63, WNT4
8	embryonic limb morphogenesis	GO:0030326	9.8	TBX5, TP63
9	pattern specification process	GO:0007389	9.7	TBX5, TP63
10	negative regulation of transcription, DNA-templated	GO:0045892	9.3	TBX3, TP63, WNT4
11	skeletal system development	GO:0001501	9.1	TBX3, TP63
12	multicellular organism development	GO:0007275	8.7	TBX3, TBX5, TP63, WNT4
13	positive regulation of transcription, DNA-templated	GO:0045893	8.5	TBX3, TBX5, TP63, WNT4