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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by OMIM:266500
ClinVar Annotator: match by term: Phytanic acid storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:26467025 PMID:26587300 PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Phytanic acid storage disease
ClinVar Annotator: match by OMIM:266500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 PMID:10767344 PMID:11555634 PMID:12522768 PMID:14974078 PMID:16186124 PMID:17576681 PMID:17905308 PMID:18612766 PMID:20818383 PMID:24033266 PMID:25472526 PMID:25741868 PMID:27229527 PMID:28041643 PMID:28492532, PMID:10709665, PMID:19004801 RGD:13831337, RGD:13831313 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 PMID:11555634 PMID:14974078 PMID:17905308 PMID:18612766 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by OMIM:614879
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
OMIM
ClinVar
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:17576681 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23352163 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4D ClinVar
OMIM
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:17470135 PMID:17576681 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
infantile Refsum disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar PMID:9398847 PMID:9398848 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar Annotator: match by OMIM:601539
OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16141001 PMID:17055079 PMID:19105186 PMID:19877282 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27353947 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31374812 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Infantile Refsum's disease ClinVar PMID:2122101 PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:11370741 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:17534573 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:22471590 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:26643206 PMID:27124789 PMID:27763634 PMID:28492532 PMID:29389947 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10528859 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        lipid metabolism disorder 925
          Refsum disease 9
            Adult Refsum Disease, 1 1
            Adult Refsum Disease, 2 1
            Charcot-Marie-Tooth disease type 4D 1
            Refsum Disease with Increased Pipecolic Acidemia 0
            infantile Refsum disease 6
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                Refsum disease 9
                  Adult Refsum Disease, 1 1
                  Adult Refsum Disease, 2 1
                  Charcot-Marie-Tooth disease type 4D 1
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  infantile Refsum disease 6
paths to the root