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Genetics Home Reference: your guide to understanding genetic conditions
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Alström syndrome

Reviewed September 2014

What is Alström syndrome?

Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

How common is Alström syndrome?

More than 900 people with Alström syndrome have been reported worldwide.

What genes are related to Alström syndrome?

Mutations in the ALMS1 gene cause Alström syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alström syndrome affect many parts of the body.

Related Gene(s)

Changes in this gene are associated with Alström syndrome.

  • ALMS1

How do people inherit Alström syndrome?

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 Alström syndrome?

These resources address the diagnosis or management of Alström syndrome and may include treatment providers.

  • Gene Review: Alstrom Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1267)
  • Genetic Testing Registry: Alstrom syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268425)
  • MedlinePlus Encyclopedia: Acanthosis Nigricans (http://www.nlm.nih.gov/medlineplus/ency/article/000852.htm)
  • MedlinePlus Encyclopedia: Alström syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm)

You might also find information on the diagnosis or management of Alström syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/alstrom-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/alstrom-syndrome/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 Alström syndrome?

You may find the following resources about Alström syndrome 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 Alström syndrome?

  • ALMS
  • Alstrom-Hallgren syndrome
  • Alstrom syndrome

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 Alström syndrome?

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

What glossary definitions help with understanding Alström syndrome?

acanthosis nigricans ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; diabetes ; diabetes mellitus ; dilated ; gene ; inherited ; insulin ; insulin resistance ; protein ; recessive ; short stature ; stature ; syndrome

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

References

  • Gene Review: Alstrom Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1267)
  • Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210. Epub 2010 Dec 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21135875?dopt=Abstract)
  • Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005 May 15;135(1):96-8. (http://www.ncbi.nlm.nih.gov/pubmed/15809999?dopt=Abstract)
  • Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis. 2007 Dec 21;2:49. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18154657?dopt=Abstract)
  • Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007 Dec;15(12):1193-202. Epub 2007 Oct 17. (http://www.ncbi.nlm.nih.gov/pubmed/17940554?dopt=Abstract)
  • Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005 Mar 28;165(6):675-83. (http://www.ncbi.nlm.nih.gov/pubmed/15795345?dopt=Abstract)
  • Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alström Syndrome - update 2013. Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.61. Epub 2013 Apr 24. (http://www.ncbi.nlm.nih.gov/pubmed/23612576?dopt=Abstract)
  • Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. Epub 2006 May 23. (http://www.ncbi.nlm.nih.gov/pubmed/16720663?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: September 2014
Published: October 20, 2014