ONKI3 | MedIEQ: Medical Subject Headings

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Refsum Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Nervous System Malformations ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Nervous System Malformations ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Peripheral Nervous System Diseases ∟ Polyneuropathies ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease 7 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease, Infantile \| ∟ Zellweger Syndrome \| ∟ Charcot-Marie-Tooth Disease \| ∟ Spastic Paraplegia, Hereditary X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Nervous System Malformations ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Nervous System Malformations ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Peripheral Nervous System Diseases ∟ Polyneuropathies ∟ Hereditary Motor and Sensory Neuropathies ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease Hereditary Motor and Sensory Neuropathies > Nervous System Malformations > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hereditary Motor and Sensory Neuropathies > Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Hereditary Motor and Sensory Neuropathies > Nervous System Malformations > Nervous System Diseases > Medical Subject Headings (MeSH) Hereditary Motor and Sensory Neuropathies > Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Hereditary Motor and Sensory Neuropathies > Polyneuropathies > Peripheral Nervous System Diseases > Neuromuscular Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse with REFSUM DISEASE, INFANTILE X
historyNote*:	1996 (1964) X
publicMeSHNote*:	1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990 X
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. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateEstablished*:	1967-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Acatalasia \| Adrenoleukodystrophy \| Chondrodysplasia Punctata, Rhizomelic \| Refsum Disease, Infantile \| Zellweger Syndrome \| Charcot-Marie-Tooth Disease \| Spastic Paraplegia, Hereditary X
URI:	X
Labels and equivalent concepts:	Refsumin tauti (fi) Refsum-Thiebaut Syndrome (en, replaced) Refsum Disease, Phytanic Acid Oxidase Deficiency (en, replaced) Phytanic Acid Storage Disease (en, replaced) Neuropathy, Hereditary Motor and Sensory, Type IV (en, replaced) Refsum's Disease (en, replaced) Refsum's Syndrome (en, replaced) HMSN Type IV (en, replaced) Heredopathia Atactica Polyneuritiformis (en, replaced) Hereditary Type IV Motor and Sensory Neuropathy (en, replaced) Hereditary Motor and Sensory Neuropathy, Type IV (en, replaced) Hemeralopia Heredoataxia Polyneuritiformis (en, replaced) Enfermedad de Refsum (es) σύνδρομο Refsum (el) Refsum-Krankheit (de) Refsumův syndrom (cs) HMSN Tipo IV (es, replaced) Heredopatía Atáxica Polineuritiforme (es, replaced) Enfermedad por Acumulación de Ácido Fitánico (es, replaced) Neuropathie, hereditäre, sensomotorische Typ IV (de, replaced) HMSN Typ IV (de, replaced) Heriditäre motorische und sensorische Neuropathie, Typ IV (de, replaced) Heredopathia atactica polyneuritiformis (de, replaced) Neuropathie, heriditäre motorische und sensorische, Typ IV (de, replaced) Phytansäurespeicherkrankheit (de, replaced) Hereditäre-Typ-IV-sensomotorische Neuropathie (de, replaced) X
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