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Alström syndrome

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Description

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 (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.

Frequency

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

Causes

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.

Inheritance

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.

Other Names for This Condition

  • ALMS
  • Alstrom syndrome
  • Alstrom-Hallgren syndrome

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007 Dec;15(12):1193-202. Epub 2007 Oct 17. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Alström Syndrome. 2003 Feb 7 [updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1267/ Citation on PubMed
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