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ONTOLOGY REPORT - ANNOTATIONS


Term:Refsum disease
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Accession:DOID:10582 term browser browse the term
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.
Synonyms:exact_synonym: Adult Refsum Disease;   Adult Refsum Diseases;   Classic Refsum Disease;   Classic Refsum Diseases;   HMSN 4;   HMSN IV;   HMSN IVs;   HMSN Type IV;   HMSN4;   HSMN IV;   Hemeralopia Heredoataxia Polyneuritiformis;   Hereditary Motor And Sensory Neuropathy Iv;   Hereditary Motor and Sensory Neuropathy Type IV;   Heredopathia Atactica Polyneuritiformis;   Phytanic Acid Oxidase Deficiency;   Phytanic Acid Storage Disease;   Refsum Disease, Phytanic Acid Oxidase Deficiency;   Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency;   Refsum Syndrome;   Refsum Thiebaut Syndrome;   Refsum's Syndrome;   Refsum's disease;   Refsum-Thiebaut Syndromes;   Refsums Syndrome;   Refsums disease
 primary_id: MESH:D012035
 alt_id: OMIM:266500;   RDO:0000672
 xref: GARD:5691;   ICD9CM:356.3;   NCI:C85043
For additional species annotation, visit the Alliance of Genome Resources.


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Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
RGD:11554173
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:7240710
RGD:8554872
RGD:13831337
RGD:13831313
RGD:11554173
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
infantile Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:7240710
RGD:8554872
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
PEROXISOME BIOGENESIS DISORDER 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        lipid metabolism disorder 740
          Refsum disease 9
            Adult Refsum Disease, 1 2
            Charcot-Marie-Tooth disease type 4D 1
            PEROXISOME BIOGENESIS DISORDER 9B 1
            Refsum Disease with Increased Pipecolic Acidemia 0
            infantile Refsum disease 6
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            Metabolic Brain Diseases 478
              Metabolic Brain Diseases, Inborn 412
                Refsum disease 9
                  Adult Refsum Disease, 1 2
                  Charcot-Marie-Tooth disease type 4D 1
                  PEROXISOME BIOGENESIS DISORDER 9B 1
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  infantile Refsum disease 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.