DISEASES Nervous System Diseases [C10] Nervous System Diseases Nervous System Malformations [C10.500] Nervous System Malformations Hereditary Sensory and Motor Neuropathy [C10.500.300] Hereditary Sensory and Motor Neuropathy Alstrom Syndrome [C10.500.300.099] Alstrom Syndrome Charcot-Marie-Tooth Disease [C10.500.300.200] Charcot-Marie-Tooth Disease Giant Axonal Neuropathy [C10.500.300.490] Giant Axonal Neuropathy Refsum Disease [C10.500.300.780] Refsum Disease Spastic Paraplegia, Hereditary [C10.500.300.820] Spastic Paraplegia, Hereditary DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Hereditary Sensory and Motor Neuropathy [C10.574.500.495] Hereditary Sensory and Motor Neuropathy Alstrom Syndrome [C10.574.500.495.099] Alstrom Syndrome Charcot-Marie-Tooth Disease [C10.574.500.495.200] Charcot-Marie-Tooth Disease Giant Axonal Neuropathy [C10.574.500.495.490] Giant Axonal Neuropathy Refsum Disease [C10.574.500.495.780] Refsum Disease Spastic Paraplegia, Hereditary [C10.574.500.495.820] Spastic Paraplegia, Hereditary DISEASES Nervous System Diseases [C10] Nervous System Diseases Neuromuscular Diseases [C10.668] Neuromuscular Diseases Peripheral Nervous System Diseases [C10.668.829] Peripheral Nervous System Diseases Polyneuropathies [C10.668.829.800] Polyneuropathies Hereditary Sensory and Motor Neuropathy [C10.668.829.800.300] Hereditary Sensory and Motor Neuropathy Alstrom Syndrome [C10.668.829.800.300.099] Alstrom Syndrome Charcot-Marie-Tooth Disease [C10.668.829.800.300.200] Charcot-Marie-Tooth Disease Giant Axonal Neuropathy [C10.668.829.800.300.490] Giant Axonal Neuropathy Refsum Disease [C10.668.829.800.300.780] Refsum Disease Spastic Paraplegia, Hereditary [C10.668.829.800.300.820] Spastic Paraplegia, Hereditary DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Retinitis Pigmentosa [C11.270.684] Retinitis Pigmentosa Alstrom Syndrome [C11.270.684.249] Alstrom Syndrome Bardet-Biedl Syndrome [C11.270.684.624] Bardet-Biedl Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple Ciliopathies [C16.131.077.245] Ciliopathies Alstrom Syndrome [C16.131.077.245.063] Alstrom Syndrome Bardet-Biedl Syndrome [C16.131.077.245.125] Bardet-Biedl Syndrome Caroli Disease [C16.131.077.245.250] Caroli Disease Ciliary Motility Disorders [C16.131.077.245.500] Ciliary Motility Disorders von Hippel-Lindau Disease [C16.131.077.245.750] von Hippel-Lindau Disease DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Nervous System Malformations [C16.131.666] Nervous System Malformations Hereditary Sensory and Motor Neuropathy [C16.131.666.300] Hereditary Sensory and Motor Neuropathy Alstrom Syndrome [C16.131.666.300.099] Alstrom Syndrome Charcot-Marie-Tooth Disease [C16.131.666.300.200] Charcot-Marie-Tooth Disease Giant Axonal Neuropathy [C16.131.666.300.490] Giant Axonal Neuropathy Refsum Disease [C16.131.666.300.780] Refsum Disease Spastic Paraplegia, Hereditary [C16.131.666.300.820] Spastic Paraplegia, Hereditary DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Ciliopathies [C16.320.184] Ciliopathies Alstrom Syndrome [C16.320.184.063] Alstrom Syndrome Bardet-Biedl Syndrome [C16.320.184.125] Bardet-Biedl Syndrome Caroli Disease [C16.320.184.250] Caroli Disease Ciliary Motility Disorders [C16.320.184.500] Ciliary Motility Disorders Polycystic Kidney Diseases [C16.320.184.625] Polycystic Kidney Diseases von Hippel-Lindau Disease [C16.320.184.750] von Hippel-Lindau Disease DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Retinitis Pigmentosa [C16.320.290.684] Retinitis Pigmentosa Alstrom Syndrome [C16.320.290.684.249] Alstrom Syndrome Usher Syndromes [C16.320.290.684.500] Usher Syndromes DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hereditary Sensory and Motor Neuropathy [C16.320.400.375] Hereditary Sensory and Motor Neuropathy Alstrom Syndrome [C16.320.400.375.099] Alstrom Syndrome Charcot-Marie-Tooth Disease [C16.320.400.375.200] Charcot-Marie-Tooth Disease Giant Axonal Neuropathy [C16.320.400.375.490] Giant Axonal Neuropathy Refsum Disease [C16.320.400.375.780] Refsum Disease Spastic Paraplegia, Hereditary [C16.320.400.375.820] Spastic Paraplegia, Hereditary

Alstrom Syndrome - Preferred

Concept UI	M0529107
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.
Preferred term	Alstrom Syndrome
Entry term(s)	Alstrom Hallgren Syndrome Alstrom's Syndrome Alstrom-Hallgren Syndrome Alstroms Syndrome Alström Syndrome Syndrome, Alstrom Syndrome, Alstrom's Syndrome, Alstrom-Hallgren Syndrome, Alström