Rare Neurology News

Disease Profile

Currarino triad

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

All ages

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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)

Currarino syndrome; Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation

Categories

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

Summary

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present.[1][2]

Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons.[1][2] Currarino triad is most often caused by mutations in the MNX1 gene.[3] Treatment depends on the type and severity of abnormalities present, but may involve surgery.[1][2][3]

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 sacrum
Absent/small sacrum
Absent/underdeveloped sacrum

[ more ]

0008517
Sacrococcygeal teratoma
0030736
5%-29% of people have these symptoms
Abnormal intestine morphology
Abnormality of the intestine
0002242
Arteriovenous malformation
0100026
Bifid scrotum
Cleft of scrotum
0000048
Hypoplasia of penis
Underdeveloped penis
0008736
Hypospadias
0000047
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Male pseudohermaphroditism
0000037
Vesicoureteral reflux
0000076
1%-4% of people have these symptoms
Bifid sacrum
0009791
Hemisacrum
0009790
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Anal atresia
Absent anus
0002023
Anal fistula
0010447
Anal stenosis
Narrowing of anal opening
0002025
Anterior sacral meningocele
0007293
Autosomal dominant inheritance
0000006
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

0000813
Chronic constipation
Infrequent bowel movements
0012450
Gastrointestinal obstruction
Obstruction in digestive tract
0004796
Global developmental delay
0001263
Horseshoe kidney
Horseshoe kidneys
0000085
Incomplete penetrance
0003829
Neurogenic bladder
Lack of bladder control due to nervous system injury
0000011
Perianal abscess
0009789
Presacral teratoma
0009793
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Sepsis
Infection in blood stream
0100806
Septate vagina
Double vagina
0001153
Tethered cord
0002144
Urinary incontinence
Loss of bladder control
0000020
Vascular dilatation
Wider than typical opening or gap
0002617

Cause

Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein.[3]

Less frequently, a complex phenotype of Currarino triad can be caused by microdeletions of 7q containing MNX1 (the long arm of chromosome 7 is missing a small piece of DNA which includes MNX1 and other genes).[3]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

In-Depth Information

  • 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 Currarino triad. Click on the link to view a sample search on this topic.

References

  1. Patel RV, De Coppi P, Kiely E, and Pierro A. Currarino's syndrome in twins presenting as neonatal intestinal obstruction--identical presentation in non-identical twins. BMJ Case Rep. September 8 2014; https://www.ncbi.nlm.nih.gov/pubmed/25199187.
  2. Akay S, Battal B, Karaman B, and Bozkurt Y. Complete Currarino Syndrome Recognized in Adulthood. Journal of Clinical Imaging Science. 2015; 5:10. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374199/.
  3. Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, and Babovic-Vuksanovic D. Phenotype analysis impacts testing strategy in patients with Currarino syndrome. Clin Genet. January 2016; 89(1):109-114. https://www.ncbi.nlm.nih.gov/25691298.

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