refsum disease

Preferred Label : refsum disease;

MeSH 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.;

MeSH synonym : Refsum-Thiebaut syndromes; refsums syndrome; refsum-thiebaut syndrome; syndrome, refsum-thiebaut; refsum's syndrome; disease, refsum; refsum's disease; disease, refsum's; refsums disease; refsum syndrome; syndrome, refsum's; refsum thiebaut syndrome; syndromes, Refsum-Thiebaut; syndrome, refsum;

CISMeF synonym : Refsum; hereditary motor and sensory neuropathy iv; phytanic acid oxidase deficiency; adult refsum disease; classic refsum disease; heredopathia atactica polyneuritiformis;

MeSH hyponym : refsum disease, Phytanoyl-CoA hydroxylase deficiency; Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency; Refsum Disease, Phytanic Acid Oxidase Deficiency; Refsum Disease, Adult; Adult Refsum Diseases; Disease, Adult Refsum; Diseases, Adult Refsum; Refsum Diseases, Adult; Refsum Disease, Classic; Classic Refsum Diseases; Disease, Classic Refsum; Diseases, Classic Refsum; Refsum Diseases, Classic; Phytanic Acid Storage Disease; Polyneuritiformis, Heredopathia Atactica; Hemeralopia Heredoataxia Polyneuritiformis; Heredoataxia Polyneuritiformis, Hemeralopia; Polyneuritiformis, Hemeralopia Heredoataxia; HMSN IV; HMSN IVs; Hereditary Motor and Sensory Neuropathy Type IV; Neuropathy, Hereditary Motor and Sensory, Type IV; HMSN Type IV; Hereditary Motor and Sensory Neuropathy, Type IV; HMSN 4; Hereditary Type IV Motor and Sensory Neuropathy;

MeSH annotation : do not confuse with REFSUM DISEASE, INFANTILE;

Wikipedia link : https://en.wikipedia.org/wiki/Refsum disease;

Details

Origin ID

D012035;

UMLS CUI

C0034960;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum Disease [NCIt concept]
- Refsum disease [Disease (Nov.)]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [ICD-11 More detail]
- Refsum disease [ORDO Disease]
- Refsum disease, classic [OMIM Phenotype]
- Refsum's disease [ICD-10 Sub-category]
- Refsum's disease [ICD-9 code]
- Refsum's disease [MedDRA Preferred Term]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
DO Cross reference
- Refsum disease [DO Concept]
Indexing information
- PHYH protein, human [MeSH Supplementary Concept]
- phyh protein, mouse [MeSH Supplementary Concept]
- phyh protein, rat [MeSH Supplementary Concept]
- phyhip protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive metabolic cerebellar ataxia [ORDO Disease]
- Ichthyosis associated with a peroxisomal disease [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Syndromic ichthyosis associated with ocular features [ORDO Disease]
Ne pas confondre avec
- refsum disease, infantile [MeSH Descriptor]
ORDO relation(s)
- Refsum disease [ORDO Disease]
Record concept(s)
- Adult Refsum Disease [MeSH concept]
- Classic Refsum Disease [MeSH concept]
- Hereditary Motor And Sensory Neuropathy IV [MeSH concept]
- Heredopathia Atactica Polyneuritiformis [MeSH concept]
- Phytanic Acid Oxidase Deficiency [MeSH concept]
- refsum disease [MeSH concept]
- refsum disease, Phytanoyl-CoA hydroxylase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- neuropathy, hereditary motor and sensory, LOM type [MeSH Supplementary Concept]
- refsum disease with increased pipecolic acidemia [MeSH Supplementary Concept]
- refsum disease, adult, 1 [MeSH Supplementary Concept]
- refsum disease, adult, 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum Disease [NCIt concept]
- Refsum disease [ORDO Disease]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [Disease (Nov.)]
- Refsum disease [ICD-11 More detail]
- Refsum disease, classic [OMIM Phenotype]
- Refsum's disease [ICD-9 code]
- Refsum's disease [MedDRA Preferred Term]
- Refsum's disease [ICD-10 Sub-category]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]

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