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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

Término preferido

Alstrom Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

URI

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

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RDF/XML TURTLE JSON-LD Creado 6/7/09, última modificación 31/5/16