Refsum Disease
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.
推出的年份: 1996(1964)
树号: 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
MeSH 单一 ID: D012035
进入的组:
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
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
Refsum Disease, Phytanic Acid Oxidase Deficiency
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