"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) |
C10.228.140.163.100.813 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 C16.320.565.189.813 C16.320.565.663.760 C18.452.132.100.813 C18.452.648.189.813 C18.452.648.663.760
|
| Concept/Terms |
Refsum Disease- Refsum Disease
- Disease, Refsum
- Hereditary Motor and Sensory Neuropathy Type IV
- Refsum Disease, Adult
- Adult Refsum Diseases
- Disease, Adult Refsum
- Diseases, Adult Refsum
- Refsum Diseases, Adult
- Phytanic Acid Oxidase Deficiency
- HMSN IV
- HMSN IVs
- Hereditary Motor And Sensory Neuropathy IV
- Hereditary Type IV Motor and Sensory Neuropathy
- Neuropathy, Hereditary Motor and Sensory, Type IV
- Heredopathia Atactica Polyneuritiformis
- Polyneuritiformis, Heredopathia Atactica
- HMSN Type IV
- Refsum's Disease
- Disease, Refsum's
- Refsums Disease
- Refsum's Syndrome
- Refsums Syndrome
- Syndrome, Refsum's
- Phytanic Acid Storage Disease
- Hemeralopia Heredoataxia Polyneuritiformis
- Heredoataxia Polyneuritiformis, Hemeralopia
- Polyneuritiformis, Hemeralopia Heredoataxia
- Refsum-Thiebaut Syndrome
- Refsum Thiebaut Syndrome
- Refsum-Thiebaut Syndromes
- Syndrome, Refsum-Thiebaut
- Syndromes, Refsum-Thiebaut
- Hereditary Motor and Sensory Neuropathy, Type IV
- Adult Refsum Disease
- Classic Refsum Disease
- Refsum Syndrome
- Syndrome, Refsum
- HMSN 4
- Refsum Disease, Classic
- Classic Refsum Diseases
- Disease, Classic Refsum
- Diseases, Classic Refsum
- Refsum Diseases, Classic
|
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]
- Refsum Disease [C10.228.140.163.100.813]
- 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]
- Refsum Disease [C16.320.565.189.813]
- 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]
- Refsum Disease [C18.452.132.100.813]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Refsum Disease [C18.452.648.189.813]
- 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".
This graph shows the total number of publications written about "Refsum Disease" by people in this website by year, and whether "Refsum Disease" was a major or minor topic of these publications.
Below are the most recent publications written about "Refsum Disease" by people in Profiles.
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Ocular manifestations of genetic skin disorders. Clin Dermatol. 2016 Mar-Apr; 34(2):242-75.
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CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. J Pharmacol Exp Ther. 2006 Aug; 318(2):835-9.
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Dysphagia in hereditary sensory autonomic neuropathy type IV. J Pak Med Assoc. 1999 May; 49(5):121-3.