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Disease Refsum Disease

Name Refsum Disease
Synonyms Adult Refsum Disease | Adult Refsum Diseases | Classic Refsum Disease | Classic Refsum Diseases | Disease, Adult Refsum | Disease, Classic Refsum | Disease, Refsum | Disease, Refsum's | Diseases, Adult Refsum | Diseases, Classic Refsum | 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 | Heredoataxia Polyneuritiformis, Hemeralopia | Heredopathia Atactica Polyneuritiformis | HMSN4 | HMSN 4 | HMSN IV | HMSN IVs | HMSN Type IV | Neuropathy, Hereditary Motor and Sensory, Type IV | Phytanic Acid Oxidase Deficiency | Phytanic Acid Storage Disease | Polyneuritiformis, Hemeralopia Heredoataxia | Polyneuritiformis, Heredopathia Atactica | Refsum Disease, Adult | REFSUM DISEASE, ADULT, 1 | Refsum Disease, Classic | Refsum Disease, Phytanic Acid Oxidase Deficiency | Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency | Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency | Refsum Diseases, Adult | Refsum Diseases, Classic | Refsum's Disease | Refsums Disease | Refsum's Syndrome | Refsums Syndrome | Refsum Syndrome | Refsum Thiebaut Syndrome | Refsum-Thiebaut Syndrome | Refsum-Thiebaut Syndromes | Syndrome, Refsum | Syndrome, Refsum's | Syndrome, Refsum-Thiebaut | Syndromes, Refsum-Thiebaut
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D012035
OMIM® ID 266500
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Polyneuropathies Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes
11. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Refsum Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Refsum Disease Has associated chemicals Has associated genes
  Neuropathy, hereditary motor and sensory, LOM type Has associated chemicals Has associated genes
  Refsum Disease, Adult, 1
  Refsum Disease, Adult, 2
  Refsum disease with increased pipecolic acidemia