Alstrom syndrome: Overview

Description

Alstrom 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.

Alstrom 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 Alstrom 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 Alstrom syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

Source: GHR (NLM/NIH)1

   •   •   •

Back to: « Alstrom syndrome

   •   •   •

Summary

Alstrom 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] Alstrom 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 Alstrom 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

Source: GARD (NIH)2

   •   •   •

Alstrom Syndrome: A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure.3

   •   •   •

Alstrom Syndrome: Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (Nystagmus, Pathologic; Retinitis Pigmentosa; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include Type 2 Diabetes Mellitus; Hyperinsulinemia; Acanthosis Nigricans; Hypothyroidism; and progressive renal and hepatic failures. The disease is caused by mutations in the Alms1 gene.4

   •   •   •

Alstrom syndrome: An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has material basis in mutations in the ALMS1 gene.5

   •   •   •

Alstrom syndrome: AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.6

   •   •   •

References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alstrom-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5787/ alstrom-syndrome
  3. Source: NCI Thesaurus
  4. Source: MeSH (U.S. National Library of Medicine)
  5. Source: Disease Ontology
  6. Source: Monarch Initiative

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.