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.

Also Known As:

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

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Alstrom Syndrome: 96
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Motor Neuropathy: 260
        Alstrom Syndrome: 96
- Nervous System Malformations: 36
  - Hereditary Sensory and Motor Neuropathy: 260
    - Alstrom Syndrome: 96
Eye Diseases: 3620
- Hereditary Eye Diseases: 19
  - Retinitis Pigmentosa: 4076
    - Alstrom Syndrome: 96
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Ciliopathies: 632
      - Alstrom Syndrome: 96
  - Nervous System Malformations: 36
    - Hereditary Sensory and Motor Neuropathy: 260
      - Alstrom Syndrome: 96
- Inborn Genetic Diseases: 12342
  - Ciliopathies: 632
    - Alstrom Syndrome: 96
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Alstrom Syndrome: 96
  - Hereditary Eye Diseases: 19
    - Retinitis Pigmentosa: 4076
      - Alstrom Syndrome: 96

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Therapy/Procedure