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

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 personâs 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

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

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases, Reproductive diseases, Ear diseases

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

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

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
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Diseases related to Murcs Association via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)

id	Related Disease	Score	Top Affiliating Genes
1	holt-oram syndrome	30.6	TBX3, TBX5
2	mayer-rokitansky-kuster-hauser syndrome	11.0
3	vaginitis	10.8
4	image syndrome	10.8
5	46 xx gonadal dysgenesis	10.7
6	endometriosis	10.6
7	leiomyoma	10.6
8	silver-russell syndrome	10.4
9	neurofibromatosis	10.4
10	androgen insensitivity syndrome	10.4
11	von willebrand's disease	10.4
12	hyperprolactinemia	10.4
13	situs inversus	10.4
14	endodermal sinus tumor	10.4
15	esophagitis	10.4
16	immature teratoma of ovary	10.4
17	kidney disease	10.4
18	peritonitis	10.4
19	uterine fibroid	10.4
20	vaginal cancer	10.4
21	triple x syndrome	10.4
22	williams syndrome	10.4
23	mullerian aplasia and hyperandrogenism	10.4
24	vacterl association	10.2
25	frontal lobe epilepsy	10.1
26	amenorrhea	10.1
27	anovulation	10.1
28	gonadal dysgenesis	10.1
29	hyperostosis	10.1
30	klippel-feil syndrome 1, autosomal dominant	10.1
31	classic mayer-rokitansky-küster-hauser syndrome	10.1
32	adult syndrome	10.0	TP63
33	renal dysplasia	10.0	HNF1B
34	ulnar-mammary syndrome	10.0	TBX3, TBX5
35	digeorge syndrome	10.0	TBX5, TBX3
36	developmental disabilities	10.0	TBX5, HNF1B

Graphical network of the top 20 diseases related to Murcs Association:

Clinical Features for Murcs Association

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
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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

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Murcs Association

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Genetic Tests for Murcs Association

Anatomical Context for Murcs Association

Sources:
³²MalaCards
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MalaCards organs/tissues related to Murcs Association:

³²

Kidney, Uterus, Bone

Animal Models for Murcs Association or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Murcs Association:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.7	TBX6, TP63, LHX1, HNF1B
2	reproductive system phenotype	MP:0005389	8.5	LHX1, TBX3, TP63, TBX6
3	endocrine/exocrine gland phenotype	MP:0005379	8.4	HNF1B, TP63, TBX3, LHX1
4	limbs/digits/tail phenotype	MP:0005371	8.2	TBX3, TP63, TBX5, TBX6
5	growth/size phenotype	MP:0005378	8.0	TP63, HNF1B, LHX1, TBX6, TBX3
6	skeleton phenotype	MP:0005390	8.0	TP63, TBX5, TBX6, TBX3
7	normal phenotype	MP:0002873	7.8	TBX3, TBX5, TP63, LHX1
8	cardiovascular system phenotype	MP:0005385	7.8	TBX5, TBX3, TBX6, LHX1, TP63
9	embryogenesis phenotype	MP:0005380	7.3	TP63, LHX1, TBX6, TBX3, TBX5, HNF1B
10	mortality/aging	MP:0010768	7.3	HNF1B, LHX1, TBX6, TBX3, TBX5, TP63

Publications for Murcs Association

Genes related to Murcs Association

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁸Orphanet
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Genes related to Murcs Association:

id	Symbol	Description	Score	Implication
1	LHX1	LIM homeobox 1	21.72	Causative germline mutation ⁴⁸ GeneCards inferred : Disorders (show sections)
2	TBX6	T-box 6	16.67	Causative germline mutation ⁴⁸
3	HNF1B	HNF1 homeobox B	13.33	Candidate gene tested ⁴⁸
4	TBX3	T-box 3	11.72	GeneCards inferred : Publications, Disorders (show sections)
5	TBX5	T-box 5	8.39	GeneCards inferred : Publications, Disorders (show sections)
6	TP63	tumor protein p63	5.05	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Murcs Association disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	6	6	5
2	LSBio	-	-	6

Genetic Variations for Murcs Association

Expression for genes affiliated with Murcs Association

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Murcs Association

Search GEO for disease gene expression data for Murcs Association.

Pathways for genes affiliated with Murcs Association

Sources:
³⁷NCBI BioSystems Database
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Pathways related to Murcs Association according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Neural Crest Differentiation³⁷	9.6	TBX6, LHX1

Compounds for genes affiliated with Murcs Association

GO Terms for genes affiliated with Murcs Association

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

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	8.3	TP63, TBX5, HNF1B
2	nucleus	GO:005634	7.1	TP63, TBX5, TBX3, TBX6, LHX1, HNF1B

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

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	pronephros development	GO:048793	9.8	HNF1B, LHX1
2	kidney development	GO:001822	9.7	HNF1B, LHX1
3	anterior/posterior pattern specification	GO:009952	9.6	LHX1, HNF1B
4	cell aging	GO:007569	9.6	TP63, TBX3
5	anatomical structure morphogenesis	GO:009653	9.5	TBX6, LHX1
6	organ morphogenesis	GO:009887	9.4	TBX3, LHX1
7	pattern specification process	GO:007389	9.4	TBX5, LHX1
8	embryonic limb morphogenesis	GO:030326	9.4	TP63, TBX5
9	skeletal system development	GO:001501	9.3	TP63, TBX3
10	forelimb morphogenesis	GO:035136	9.3	TBX5, TBX3
11	embryonic forelimb morphogenesis	GO:035115	9.3	TBX3, TBX5
12	negative regulation of transcription, DNA-dependent	GO:045892	9.1	TP63, LHX1, TBX3
13	negative regulation of apoptotic process	GO:043066	9.0	TP63, TBX3, HNF1B
14	negative regulation of transcription from RNA polymerase II promoter	GO:000122	8.6	TP63, TBX3, TBX6, HNF1B
15	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.3	TP63, TBX5, HNF1B
16	positive regulation of transcription, DNA-dependent	GO:045893	7.9	HNF1B, LHX1, TBX3, TBX5, TP63

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

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription regulatory region DNA binding	GO:044212	9.4	TP63, HNF1B
2	RNA polymerase II transcription factor binding	GO:001085	9.4	TBX3, TBX6
3	RNA polymerase II activating transcription factor binding	GO:001102	9.3	TBX3, TBX6
4	DNA binding	GO:003677	7.9	TP63, TBX5, TBX6, HNF1B
5	sequence-specific DNA binding	GO:043565	7.6	TBX5, TBX3, LHX1, HNF1B, TP63
6	sequence-specific DNA binding transcription factor activity	GO:003700	7.2	TBX3, TBX5, TP63, LHX1, HNF1B, TBX6