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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
... > 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
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
... > 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
... > Eye Diseases > Retinal Diseases > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Alstrom Syndrome

Terme préférentiel

Alstrom Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-N8PXCD71-5

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 31/05/2016