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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:9657395, PMID:10767344, PMID:11555634, PMID:12522768, PMID:14974078, PMID:16186124, 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:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:14974078, PMID:17325280, 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, PMID:30311386 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:10831399, PMID:12872253, PMID:15322984, PMID:17470135, 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 Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar PMID:9398847, PMID:12402331, PMID:16086329, PMID:16141001, PMID:19105186, PMID:21031596, PMID:25525159, PMID:25741868, PMID:27353947, PMID:27848944, PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
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:28468868, PMID:28492532, PMID:30311386 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
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
CTD
ClinVar
PMID:12851857, PMID:16257970, PMID:19877282, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:7719337, PMID:25741868, PMID:26344566, PMID:28492532, PMID:30311386 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596
JBrowse link
Refsum Disease with Increased Pipecolic Acidemia 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 term: Refsum disease with increased pipecolic acidemia ClinVar 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:26587300, PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        lipid metabolism disorder 900
          Refsum disease 51
            Adult Refsum Disease, 1 1
            Adult Refsum Disease, 2 1
            Charcot-Marie-Tooth disease type 4D 1
            Refsum Disease with Increased Pipecolic Acidemia 1
            infantile Refsum disease 48
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Refsum disease 51
                  Adult Refsum Disease, 1 1
                  Adult Refsum Disease, 2 1
                  Charcot-Marie-Tooth disease type 4D 1
                  Refsum Disease with Increased Pipecolic Acidemia 1
                  infantile Refsum disease 48
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.