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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

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

Concept/Terms

Refsum Disease

Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency

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 related to "Refsum Disease".

Below are MeSH descriptors whose meaning is more specific than "Refsum Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Refsum Disease" by people in Harvard Catalyst Profiles by year, and whether "Refsum Disease" was a major or minor topic of these publication.

Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 1995 and 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1995	1	0	1
2013	1	0	1

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