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... > Eye Diseases > Retinal Diseases > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Alstrom Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Alstrom Syndrome
... > Eye Diseases > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Alstrom Syndrome
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Hereditary Sensory and Motor Neuropathy > Alstrom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Alstrom Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Alstrom Syndrome
Nervous System Diseases > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Alstrom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Alstrom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Ciliopathies > Alstrom Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ciliopathies > Alstrom Syndrome

Preferred term

Alstrom Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Alstrom Hallgren Syndrome
  • Alstrom-Hallgren Syndrome
  • Alstrom's Syndrome
  • Alstroms Syndrome
  • Alström Syndrome
  • Syndrome, Alström
  • Syndrome, Alstrom-Hallgren
  • Syndrome, Alstrom's

Scope note

  • 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.

History note

  • 2010

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URI

http://www.yso.fi/onto/mesh/D056769

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