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Genetics Home Reference: your guide to understanding genetic conditions
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North American Indian childhood cirrhosis

Reviewed March 2011

What is North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.

How common is North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported.

What genes are related to North American Indian childhood cirrhosis?

North American Indian childhood cirrhosis results from at least one known mutation in the CIRH1A gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins.

Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a CIRH1A gene mutation causes the progressive liver damage characteristic of this disorder.

Related Gene(s)

Changes in this gene are associated with North American Indian childhood cirrhosis.

  • CIRH1A

How do people inherit North American Indian childhood cirrhosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of North American Indian childhood cirrhosis?

These resources address the diagnosis or management of North American Indian childhood cirrhosis and may include treatment providers.

  • Children's Organ Transplant Association (http://www.cota.org/)
  • Genetic Testing Registry: North american indian childhood cirrhosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858051)

You might also find information on the diagnosis or management of North American Indian childhood cirrhosis in Educational resources (http://www.ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about North American Indian childhood cirrhosis?

You may find the following resources about North American Indian childhood cirrhosis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for North American Indian childhood cirrhosis?

  • NAIC

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about North American Indian childhood cirrhosis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding North American Indian childhood cirrhosis?

acids ; autosomal ; autosomal recessive ; cell ; chronic ; cirrhosis ; DNA ; gene ; inherited ; jaundice ; liver failure ; molecule ; mutation ; neonatal ; nucleolus ; nucleus ; population ; protein ; recessive ; ribosomal RNA ; RNA ; transient

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet. 2000 Jul;67(1):222-8. Epub 2000 May 11. (http://www.ncbi.nlm.nih.gov/pubmed/10820129?dopt=Abstract)
  • Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. Epub 2002 Nov 4. (http://www.ncbi.nlm.nih.gov/pubmed/12417987?dopt=Abstract)
  • Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A. North American Indian cirrhosis in children: a review of 30 cases. J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):395-404. (http://www.ncbi.nlm.nih.gov/pubmed/11045837?dopt=Abstract)
  • Weber AM, Tuchweber B, Yousef I, Brochu P, Turgeon C, Gabbiani G, Morin CL, Roy CC. Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction? Gastroenterology. 1981 Oct;81(4):653-62. (http://www.ncbi.nlm.nih.gov/pubmed/6894906?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2011
Published: August 25, 2014