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Refsum Disease MeSH Descriptor Data 2022


MeSH Heading
Refsum Disease
Tree 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
Unique ID
D012035
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D012035
Annotation
do not confuse with REFSUM DISEASE, INFANTILE
Scope Note
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.
Entry Version
REFSUM DIS
Entry Term(s)
Adult Refsum Disease
Classic Refsum Disease
HMSN 4
HMSN IV
HMSN Type IV
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
Neuropathy, Hereditary Motor and Sensory, Type IV
Phytanic Acid Oxidase Deficiency
Phytanic Acid Storage Disease
Refsum Disease, Adult
Refsum Disease, Classic
Refsum Disease, Phytanic Acid Oxidase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Syndrome
Refsum's Disease
Refsum's Syndrome
Refsum-Thiebaut Syndrome
Public MeSH Note
1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990
History Note
1996 (1964)
Date Established
1967/01/01
Date of Entry
1999/01/01
Revision Date
2016/06/23
Refsum Disease Preferred
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency Narrower
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