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Refsum Disease, Infantile
MeSH HeadingRefsum Disease, Infantile
Tree NumberC10.228.140.163.100.680.865
Tree NumberC16.320.565.189.680.865
Tree NumberC16.320.565.663.865
Tree NumberC18.452.132.100.680.865
Tree NumberC18.452.648.189.680.865
Tree NumberC18.452.648.663.865
Annotationdo not confuse with REFSUM DISEASE
Scope NoteAn early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Entry TermInfantile Form of Phytanic Acid Storage Disease
Entry TermInfantile Phytanic Acid Storage Disease
Entry TermInfantile Refsum Disease
Entry TermInfantile Refsum's Disease
Entry TermRefsum Disease, Infantile Form
Entry TermRefsum's Disease, Infantile
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
Entry VersionREFSUM DIS INFANTILE
Previous Indexing Peroxisomal Disorders (1998-2006)
Previous Indexing Refsum Disease (1986-2006)
History Note2007; use PEROXISOMAL DISORDERS 1996-2006
Date of Entry20060705
Unique IDD052919


MeSH Tree Structures

 
Nervous System Diseases [C10]
   Central Nervous System Diseases [C10.228]
      Brain Diseases [C10.228.140]
         Brain Diseases, Metabolic [C10.228.140.163]
            Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
               Peroxisomal Disorders [C10.228.140.163.100.680]
Adrenoleukodystrophy [C10.228.140.163.100.680.100]
Mevalonate Kinase Deficiency [C10.228.140.163.100.680.430]
Refsum Disease [C10.228.140.163.100.680.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C10.228.140.163.100.680.865]
Zellweger Syndrome [C10.228.140.163.100.680.970]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Metabolism, Inborn Errors [C16.320.565]
         Brain Diseases, Metabolic, Inborn [C16.320.565.189]
            Peroxisomal Disorders [C16.320.565.189.680]
Adrenoleukodystrophy [C16.320.565.189.680.100]
Mevalonate Kinase Deficiency [C16.320.565.189.680.430]
Refsum Disease [C16.320.565.189.680.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C16.320.565.189.680.865]
Zellweger Syndrome [C16.320.565.189.680.970]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Metabolism, Inborn Errors [C16.320.565]
         Peroxisomal Disorders [C16.320.565.663]
Acatalasia [C16.320.565.663.025]
Adrenoleukodystrophy [C16.320.565.663.112]
Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.200]
Mevalonate Kinase Deficiency [C16.320.565.663.480]
Refsum Disease [C16.320.565.663.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C16.320.565.663.865]
Zellweger Syndrome [C16.320.565.663.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Brain Diseases, Metabolic [C18.452.132]
         Brain Diseases, Metabolic, Inborn [C18.452.132.100]
            Peroxisomal Disorders [C18.452.132.100.680]
Adrenoleukodystrophy [C18.452.132.100.680.100]
Mevalonate Kinase Deficiency [C18.452.132.100.680.430]
Refsum Disease [C18.452.132.100.680.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C18.452.132.100.680.865]
Zellweger Syndrome [C18.452.132.100.680.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Brain Diseases, Metabolic, Inborn [C18.452.648.189]
            Peroxisomal Disorders [C18.452.648.189.680]
Adrenoleukodystrophy [C18.452.648.189.680.100]
Mevalonate Kinase Deficiency [C18.452.648.189.680.430]
Refsum Disease [C18.452.648.189.680.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C18.452.648.189.680.865]
Zellweger Syndrome [C18.452.648.189.680.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Peroxisomal Disorders [C18.452.648.663]
Acatalasia [C18.452.648.663.025]
Adrenoleukodystrophy [C18.452.648.663.112]
Chondrodysplasia Punctata, Rhizomelic [C18.452.648.663.200]
Mevalonate Kinase Deficiency [C18.452.648.663.480]
Refsum Disease [C18.452.648.663.760]
Arrow pointing to current tree nodeRefsum Disease, Infantile [C18.452.648.663.865]
Zellweger Syndrome [C18.452.648.663.970]

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