Related MeSH Hierarchy (9)
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Alstrom Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Alstrom Syndrome
Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Retinitis Pigmentosa » Alstrom Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Ciliopathies » Alstrom Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Alstrom Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Ciliopathies » Alstrom Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Eye Diseases, Hereditary » Retinitis Pigmentosa » Alstrom Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Alstrom Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Polyneuropathies » Hereditary Sensory and Motor Neuropathy » Alstrom Syndrome
Description
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
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Phase 3 Indicated Drugs (1)
Organization Involved with Phase 3 Indications (2)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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