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Nervous System Diseases > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Refsum Disease
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease

Preferred term

Refsum Disease  

Type

  • mesh:Descriptor

Definition

  • An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Broader concept

Entry terms

  • Adult Refsum Disease
  • Classic Refsum Disease
  • Hemeralopia Heredoataxia Polyneuritiformis
  • Hereditary Motor And Sensory Neuropathy IV
  • Hereditary Motor and Sensory Neuropathy Type IV
  • Hereditary Motor and Sensory Neuropathy, Type IV
  • Hereditary Type IV Motor and Sensory Neuropathy
  • Heredopathia Atactica Polyneuritiformis
  • HMSN 4
  • HMSN IV
  • HMSN Type IV
  • Neuropathy, Hereditary Motor and Sensory, Type IV
  • Phytanic Acid Oxidase Deficiency
  • Phytanic Acid Storage Disease
  • Refsum Disease, Adult
  • Refsum Disease, Classic
  • Refsum's Disease
  • Refsum's Syndrome
  • Refsum Syndrome
  • Refsum-Thiebaut Syndrome

Allowable Qualifier(s)

In other languages

  • Maladie de Refsum

    French

  • Hérédopathie ataxique polynévritique
  • Neuropathie héréditaire motrice et sensitive de type 4
  • Neuropathie héréditaire motrice et sensitive de type IV
  • Neuropathie héréditaire motrice et sensorielle de type 4
  • Neuropathie motrice et sensitive héréditaire de type IV
  • NHMS de type 4
  • NHMS de type IV
  • NMSH de type 4
  • NMSH de type IV
  • Syndrome de Refsum-Thiébaut

URI

http://data.loterre.fr/ark:/67375/JVR-MHKLJX03-S

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