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Disease Profile

MURCS association

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; Klippel-feil deformity, conductive deafness, and absent vagina

Categories

Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases;

Summary

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). [1][2] Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss.[2] 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.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/hypoplasia of the uterus
Absent/small uterus
Absent/underdeveloped uterus

[ more ]

0008684
Azoospermia
Absent sperm in semen
0000027
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

0000813
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Low posterior hairline
Low hairline at back of neck
0002162
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Renal dysplasia
0000110
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Vertebral segmentation defect
0003422
5%-29% of people have these symptoms
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine

[ more ]

0000925
Cerebellar cyst
0002350
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus

[ more ]

0000013
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Sporadic
No previous family history
0003745
Sprengel anomaly
High shoulder blade
0000912
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney

[ more ]

0000122

Cause

The cause of MURCS association is not known. Most affected individuals have no history of the condition in their family. Symptoms of the condition develop during pregnancy but have not been linked to any known teratogens. [1][2]

Treatment

Some reproductive abnormalities may benefit from surgery. [3] Individuals with MURCS association do not typically have hormone dysfunction, so hormone therapy may not be beneficial. [4]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MURCS association. Click on the link to view a sample search on this topic.

References

  1. Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: Mullerian duct aplasia, renal aplasia. J Pediatrics. 1979; 95(3):399. https://www.ncbi.nlm.nih.gov/pubmed/469663. Accessed 4/6/2011.
  2. Mahajan P, Kher A, Khungar A, Bhat M, Sanklecha M, Bharucha BA. MURCS association--a review of 7 cases. J Postgrad Med. 1992; 38:109. https://www.ncbi.nlm.nih.gov/pubmed/1303407. Accessed 4/6/2011.
  3. Gunsar C, Genc A, Sencan A, Daglar Z, Alparslan O, Mir E. MURCS association and rectovestibular fistula: case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty. J Pediatr Surg. 2003; 38(2):262. https://www.ncbi.nlm.nih.gov/pubmed/12596120. Accessed 4/6/2011.
  4. Kaissi AA, Chehida BF, Gachem BM, Grill F, Klaushofer K. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. Am. J. Med. Genet.. 2009; 149(A):470. https://www.ncbi.nlm.nih.gov/pubmed/19213024. Accessed 4/6/2011.

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