Refsum Disease
"Refsum Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D012035
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MeSH Number(s) |
C10.228.140.163.100.680.760 C10.500.300.780 C10.574.500.495.780 C10.668.829.800.300.780 C16.131.666.300.780 C16.320.400.375.780 C16.320.565.189.680.760 C16.320.565.663.760 C18.452.132.100.680.760 C18.452.648.189.680.760 C18.452.648.663.760
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Concept/Terms |
Refsum Disease- Refsum Disease
- Disease, Refsum
- Hereditary Motor And Sensory Neuropathy Iv
- Hereditary Motor and Sensory Neuropathy, Type IV
- Hereditary Type IV Motor and Sensory Neuropathy
- Heredopathia Atactica Polyneuritiformis
- Polyneuritiformis, Heredopathia Atactica
- HMSN 4
- HMSN Type IV
- Neuropathy, Hereditary Motor and Sensory, Type IV
- Phytanic Acid Oxidase Deficiency
- Phytanic Acid Storage Disease
- Refsum Disease, Adult
- Adult Refsum Disease
- Adult Refsum Diseases
- Disease, Adult Refsum
- Diseases, Adult Refsum
- Refsum Diseases, Adult
- Refsum Disease, Classic
- Classic Refsum Disease
- Classic Refsum Diseases
- Disease, Classic Refsum
- Diseases, Classic Refsum
- Refsum Diseases, Classic
- Refsum's Disease
- Disease, Refsum's
- Refsums Disease
- Refsum's Syndrome
- Refsum Syndrome
- Refsums Syndrome
- Syndrome, Refsum's
- Refsum-Thiebaut Syndrome
- Refsum Thiebaut Syndrome
- Refsum-Thiebaut Syndromes
- Syndrome, Refsum-Thiebaut
- Syndromes, Refsum-Thiebaut
- HMSN IV
- HMSN IVs
- Hemeralopia Heredoataxia Polyneuritiformis
- Heredoataxia Polyneuritiformis, Hemeralopia
- Polyneuritiformis, Hemeralopia Heredoataxia
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Below are MeSH descriptors whose meaning is more general than "Refsum Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Peroxisomal Disorders [C10.228.140.163.100.680]
- Refsum Disease [C10.228.140.163.100.680.760]
- Nervous System Malformations [C10.500]
- Hereditary Sensory and Motor Neuropathy [C10.500.300]
- Refsum Disease [C10.500.300.780]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Hereditary Sensory and Motor Neuropathy [C10.574.500.495]
- Refsum Disease [C10.574.500.495.780]
- Neuromuscular Diseases [C10.668]
- Peripheral Nervous System Diseases [C10.668.829]
- Polyneuropathies [C10.668.829.800]
- Hereditary Sensory and Motor Neuropathy [C10.668.829.800.300]
- Refsum Disease [C10.668.829.800.300.780]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Nervous System Malformations [C16.131.666]
- Hereditary Sensory and Motor Neuropathy [C16.131.666.300]
- Refsum Disease [C16.131.666.300.780]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Hereditary Sensory and Motor Neuropathy [C16.320.400.375]
- Refsum Disease [C16.320.400.375.780]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Peroxisomal Disorders [C16.320.565.189.680]
- Refsum Disease [C16.320.565.189.680.760]
- Peroxisomal Disorders [C16.320.565.663]
- Refsum Disease [C16.320.565.663.760]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Peroxisomal Disorders [C18.452.132.100.680]
- Refsum Disease [C18.452.132.100.680.760]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Peroxisomal Disorders [C18.452.648.189.680]
- Refsum Disease [C18.452.648.189.680.760]
- Peroxisomal Disorders [C18.452.648.663]
- Refsum Disease [C18.452.648.663.760]
Below are MeSH descriptors whose meaning is more specific than "Refsum Disease".
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