Alstrom Syndrome (also known as Syndrome, Alstrom, Alström 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,

NIH MeSH · D056769Diseases

Alstrom Syndrome

Also known asSyndrome, Alstrom · Alström Syndrome · Syndrome, Alström · Alstrom-Hallgren Syndrome · Alstrom Hallgren Syndrome · Syndrome, Alstrom-Hallgren · Alstrom's Syndrome · Alstroms Syndrome · Syndrome, Alstrom's

Definition

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 classification

  • C10.500.300.099
  • C10.574.500.495.099
  • C10.668.829.800.300.099
  • C11.270.684.249
  • C16.131.077.245.063
  • C16.131.666.300.099
  • C16.320.184.063
  • C16.320.290.684.249
  • C16.320.400.375.099

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Common questions about Alstrom Syndrome

What does Alstrom Syndrome mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Alstrom Syndrome known by any other names?
Yes. Alstrom Syndrome is also referred to as Syndrome, Alstrom, Alström Syndrome, Syndrome, Alström, Alstrom-Hallgren Syndrome in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Alstrom Syndrome sit in the medical classification?
Alstrom Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.500.300.099, C10.574.500.495.099, C10.668.829.800.300.099). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Alstrom Syndrome?
For a plain-language explanation of Alstrom Syndrome - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 22+ Indian languages, is free and needs no signup. Tap "Ask GoDavaii AI about Alstrom Syndrome" above.

Source: NIH MeSH 2026 (D056769) — National Library of Medicine, public domain. View official MeSH record ↗