Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

9 entry terms
  • Alstrom's Syndrome
  • Alstrom-Hallgren Syndrome
  • Alström Syndrome
  • Alstrom Hallgren Syndrome
  • Alstroms Syndrome
  • Syndrome, Alstrom
  • Syndrome, Alstrom's
  • Syndrome, Alstrom-Hallgren
  • Syndrome, Alström

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Hierarchy

Tree Numbers

  1. C10w.500w.300w.099w
  2. C10w.574w.500.495w.099w
  3. C10w.668w.829w.800w.300w.099w
  4. C11w.270.684w.249w
  5. C16w.131w.077w.245w.063w
  6. C16w.131w.666w.300w.099w
  7. C16w.320w.184w.063w
  8. C16w.320w.290.684w.249w
  9. C16w.320w.400.375w.099w

AMA Style

References

  1. National Library of Medicine. Alstrom Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D056769. http://id.nlm.nih.gov/mesh/2026/D056769
  2. Alstrom Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Alstr%C3%B6m_syndrome
  3. Alstrom Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q432814