| Descriptor English: | Refsum Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Refsum
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| Descriptor Portuguese: | Doença de Refsum | ||||||
| Descriptor French: | Maladie de Refsum | ||||||
| Entry term(s): |
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 HMSN 4 HMSN IV HMSN IVs 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 Heredoataxia Polyneuritiformis, Hemeralopia Heredopathia Atactica Polyneuritiformis 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, 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 Syndrome Refsum Thiebaut Syndrome Refsum's Disease Refsum's Syndrome Refsum-Thiebaut Syndrome Refsum-Thiebaut Syndromes Refsums Disease Refsums Syndrome Syndrome, Refsum Syndrome, Refsum's Syndrome, Refsum-Thiebaut Syndromes, Refsum-Thiebaut |
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| 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D012035 | ||||||
| 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. |
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| Annotation: | do not confuse with REFSUM DISEASE, INFANTILE |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990 |
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| History Note: | 1996 (1964) |
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| Entry Version: | REFSUM DIS |
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| DeCS ID: | 29306 | ||||||
| Unique ID: | D012035 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1967/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2023/04/05 |
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Refsum Disease
- Preferred
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
- Narrower
Hereditary Motor And Sensory Neuropathy IV
- Narrower
Adult Refsum Disease
- Narrower
Classic Refsum Disease
- Narrower
Heredopathia Atactica Polyneuritiformis
- Narrower
Phytanic Acid Oxidase Deficiency
- Narrower
| Concept UI |
M0018709 |
| 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. |
| Preferred term | Refsum Disease |
| Entry term(s) |
Disease, Refsum Disease, Refsum's Refsum Syndrome Refsum Thiebaut Syndrome Refsum's Disease Refsum's Syndrome Refsum-Thiebaut Syndrome Refsum-Thiebaut Syndromes Refsums Disease Refsums Syndrome Syndrome, Refsum Syndrome, Refsum's Syndrome, Refsum-Thiebaut Syndromes, Refsum-Thiebaut |
| Concept UI |
M0490303 |
| Preferred term | Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency |
| Entry term(s) |
Refsum Disease, Phytanic Acid Oxidase Deficiency Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency |
| Concept UI |
M000762671 |
| Preferred term | Hereditary Motor And Sensory Neuropathy IV |
| Entry term(s) |
HMSN 4 HMSN IV HMSN IVs HMSN Type IV Hereditary Motor and Sensory Neuropathy Type IV Hereditary Motor and Sensory Neuropathy, Type IV Hereditary Type IV Motor and Sensory Neuropathy Neuropathy, Hereditary Motor and Sensory, Type IV |
| Concept UI |
M000762672 |
| Preferred term | Adult Refsum Disease |
| Entry term(s) |
Adult Refsum Diseases Disease, Adult Refsum Diseases, Adult Refsum Refsum Disease, Adult Refsum Diseases, Adult |
| Concept UI |
M000762673 |
| Preferred term | Classic Refsum Disease |
| Entry term(s) |
Classic Refsum Diseases Disease, Classic Refsum Diseases, Classic Refsum Refsum Disease, Classic Refsum Diseases, Classic |
| Concept UI |
M000762674 |
| Preferred term | Heredopathia Atactica Polyneuritiformis |
| Entry term(s) |
Hemeralopia Heredoataxia Polyneuritiformis Heredoataxia Polyneuritiformis, Hemeralopia Polyneuritiformis, Hemeralopia Heredoataxia Polyneuritiformis, Heredopathia Atactica |
| Concept UI |
M000762675 |
| Preferred term | Phytanic Acid Oxidase Deficiency |
| Entry term(s) |
Phytanic Acid Storage Disease |
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