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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alström syndrome


Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Alström syndrome is a rare genetic disorder that affects many body systems.[1][2] Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop.[2] Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner.[1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.[2][3]
Last updated: 6/22/2016

References

  1. Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
  2. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
  3. J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64.
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Basic Information

  • Alstrom Syndrome International, a supporting organization, offers information on Alström syndrome 
  • Genetics Home Reference (GHR) contains information on Alström syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

  • 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 Alström syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.