MCID: RFS001
MIFTS: 62

Refsum Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Refsum Disease

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Refsum Disease:

Name: Refsum Disease 51 11 23 47 24 25 48 53 69 12 49 38 13 67
Heredopathia Atactica Polyneuritiformis 11 47 25 48 53 69
Phytanic Acid Storage Disease 24 25 48 26
Adult Refsum Disease 23 24 25 53
Phytanic Acid Oxidase Deficiency 47 24 69
Refsum's Disease 11 25 69
Refsum Syndrome 23 24 25
Hereditary Motor and Sensory Neuropathy Iv 24 69
Classic Refsum Disease 25 53
Hmsn Type Iv 11 25
Hmsn Iv 25 69
Hmsn 4 47 53
Hereditary Motor and Sensory Neuropathy Type Iv 25
 
Hereditary Sensory and Motor Neuropathy Type 4 47
Hereditary Motor and Sensory Neuropathy Type 4 53
Phytanic-Coa Hydroxylase Deficiency 53
Hypertrophic Neuropathy of Refsum 47
Disorder of Cornification 11 47
Refsum Disease, Adult, 1 26
Retinitis Pigmentosa 67
Hsmn Iv 11
Doc 11 47
Hmsn4 69
Crd 25
Ard 25
Rd 69

Characteristics:

Orphanet epidemiological data:

53
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

63
refsum disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 266500
Disease Ontology11 DOID:10582
ICD1029 G60.1
ICD9CM31 356.3
MeSH38 D012035
NCIt44 C85043
SNOMED-CT61 25362006
Orphanet53 ORPHA773
MESH via Orphanet39 D012035
UMLS via Orphanet68 C0034960
ICD10 via Orphanet30 G60.1

Summaries for Refsum Disease

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OMIM:51 Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of... (266500) more...

MalaCards based summary: Refsum Disease, also known as heredopathia atactica polyneuritiformis, is related to peroxisome biogenesis disorder 1b and refsum disease, infantile form, and has symptoms including sensorineural hearing impairment, retinopathy and cataract. An important gene associated with Refsum Disease is PHYH (Phytanoyl-CoA 2-Hydroxylase), and among its related pathways are Visual Cycle in Retinal Rods and the visual cycle I (vertebrates). Affiliated tissues include eye, heart and skin, and related mouse phenotypes are pigmentation and cellular.

UniProtKB/Swiss-Prot:69 Refsum disease: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment.

NINDS:48 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Genetics Home Reference:25 Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.

NIH Rare Diseases:47 Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern. Last updated: 11/9/2011

Wikipedia:70 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

GeneReviews for NBK1353

Related Diseases for Refsum Disease

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Diseases in the Refsum Disease family:

Refsum Disease, Infantile Form Pex7-Related Refsum Disease
Phyh-Related Refsum Disease

Diseases related to Refsum Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 1b12.0
2refsum disease, infantile form11.9
3refsum disease with increased pipecolic acidemia11.8
4pex7-related refsum disease11.8
5phyh-related refsum disease11.8
6cone-rod dystrophy11.7
7acute respiratory distress syndrome11.7
8peroxisome biogenesis disorder 9b11.6
9cortisone reductase deficiency 111.6
10adult respiratory distress syndrome11.3
11peroxisome biogenesis disorder 1a11.1
12cortisone reductase deficiency 211.0
13hereditary motor and sensory neuropathy v11.0
14spondylometaphyseal dysplasia with cone-rod dystrophy10.9
15peroxisome biogenesis disorder 6b10.8
16peroxisome biogenesis disorder 11b10.8
17peroxisome biogenesis disorder 4b10.8
18peroxisome biogenesis disorder 5b10.8
19peroxisome biogenesis disorder 2b10.8
20peroxisome biogenesis disorder 3b10.8
21peroxisome biogenesis disorder 7b10.8
22peroxisome biogenesis disorders, zellweger syndrome spectrum10.8
23respiratory distress syndrome in premature infants10.8
24adult acute respiratory distress syndrome10.8
25chylomicron retention disease10.8
26daneman davy mancer syndrome10.8
27peroxisome biogenesis disorder 6a10.7
28peroxisome biogenesis disorder 13a10.7
29peroxisome biogenesis disorder 12a10.7
30peroxisome biogenesis disorder 11a10.7
31peroxisome biogenesis disorder 4a10.7
32peroxisome biogenesis disorder 10a10.7
33peroxisome biogenesis disorder 5a10.7
34peroxisome biogenesis disorder 8a,10.7
35peroxisome biogenesis disorder 8b10.7
36peroxisome biogenesis disorder 2a10.7
37peroxisome biogenesis disorder 3a10.7
38polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.7
39peroxisome biogenesis disorder 7a10.7
40autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
41macular dystrophy, patterned, 110.5PRPH2, ROM1
42combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
43bladder disease10.5BEST1, PRPH2
44fundus pulverulentus10.5PRPH2, ROM1
45methylmalonic aciduria, mut(0) type10.5BEST1, IMPG2, PRPH2
46x-linked infantile nystagmus10.5ABCA4, PRPH2, RHO
47branchiootorenal spectrum disorders10.4BEST1, ROM1
48natural killer cell and glucocorticoid deficiency with dna repair defect10.4PRPH2, RHO, RP1
49hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.4ABCA4, CRX, PRPH2
50muscular dystrophy-dystroglycanopathy , type b, 510.4CRX, RPGR

Graphical network of the top 20 diseases related to Refsum Disease:



Diseases related to refsum disease

Symptoms for Refsum Disease

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Symptoms by clinical synopsis from OMIM:

266500

Clinical features from OMIM:

266500

Human phenotypes related to Refsum Disease:

 63 53 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 retinopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0000488
3 cataract63 53 hallmark (90%) Very frequent (99-80%) HP:0000518
4 dry skin63 53 hallmark (90%) Very frequent (99-80%) HP:0000958
5 hypertrophic cardiomyopathy63 hallmark (90%) HP:0001639
6 abnormality of metabolism/homeostasis63 53 hallmark (90%) Very frequent (99-80%) HP:0001939
7 neurological speech impairment63 hallmark (90%) HP:0002167
8 incoordination63 hallmark (90%) HP:0002311
9 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
10 hemiplegia/hemiparesis63 53 hallmark (90%) Very frequent (99-80%) HP:0004374
11 abnormality of the sense of smell63 hallmark (90%) HP:0004408
12 abnormal pyramidal signs63 53 hallmark (90%) Very frequent (99-80%) HP:0007256
13 abnormality of retinal pigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007703
14 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064
15 peripheral neuropathy63 53 hallmark (90%) Very frequent (99-80%) HP:0009830
16 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
17 abnormality of the pupil63 typical (50%) HP:0000615
18 abnormality of the metacarpal bones63 typical (50%) HP:0001163
19 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
20 splenomegaly63 53 typical (50%) Frequent (79-30%) HP:0001744
21 camptodactyly of toe63 typical (50%) HP:0001836
22 developmental regression63 53 typical (50%) Frequent (79-30%) HP:0002376
23 skeletal muscle atrophy63 53 typical (50%) Frequent (79-30%) HP:0003202
24 abnormality of epiphysis morphology63 53 typical (50%) Frequent (79-30%) HP:0005930
25 cognitive impairment63 typical (50%) HP:0100543
26 renal insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0000083
27 visual impairment63 53 occasional (7.5%) Frequent (79-30%) HP:0000505
28 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
29 pes cavus63 53 occasional (7.5%) Occasional (29-5%) HP:0001761
30 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
31 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
32 arrhythmia63 occasional (7.5%) HP:0011675
33 abnormal renal physiology63 rare (5%) HP:0012211
34 anosmia63 53 Very frequent (99-80%) HP:0000458
35 rod-cone dystrophy63 HP:0000510
36 retinal degeneration63 HP:0000546
37 miosis63 53 Frequent (79-30%) HP:0000616
38 nyctalopia63 HP:0000662
39 ataxia63 53 Very frequent (99-80%) HP:0001251
40 hyporeflexia63 HP:0001265
41 congestive heart failure63 HP:0001635
42 cardiomyopathy63 53 Very frequent (99-80%) HP:0001638
43 cardiomegaly63 HP:0001640
44 multiple epiphyseal dysplasia63 HP:0002654
45 increased csf protein63 HP:0002922
46 sensory impairment63 HP:0003474
47 limb muscle weakness63 HP:0003690
48 short fourth metatarsal63 HP:0004689
49 sensorimotor neuropathy63 HP:0007141
50 elevated levels of phytanic acid63 HP:0010571
51 abnormality of the eye53 Very frequent (99-80%)
52 abnormality of eye movement53 Frequent (79-30%)
53 abnormality of vision53 Very frequent (99-80%)
54 progressive visual loss53 Occasional (29-5%)
55 microphthalmia53 Occasional (29-5%)
56 night blindness53 Frequent (79-30%)
57 abnormality of the foot53 Very frequent (99-80%)
58 hammertoe53 Frequent (79-30%)
59 nail dysplasia53 Very frequent (99-80%)
60 short metacarpal53 Frequent (79-30%)
61 intellectual disability, severe53 Frequent (79-30%)
62 heart block53 Occasional (29-5%)

UMLS symptoms related to Refsum Disease:


anosmia, pigmented retinopathy nos

Drugs & Therapeutics for Refsum Disease

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Drugs for Refsum Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Betaineapproved, nutraceuticalPhase 333107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
2-trimethylammonioacetate
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
TMG
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
2Bile Acids and SaltsPhase 3102
3Lipid Regulating AgentsPhase 32702
4AntimetabolitesPhase 311774
5Hypolipidemic AgentsPhase 32721
6Liver ExtractsPhase 33868
7Cholic AcidsPhase 39
8Gastrointestinal AgentsPhase 38109
9
Ursodeoxycholic acidapproved, investigational95128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
 
ISO-URSODEOXYCHOLIC ACID
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
10
chenodeoxycholic acidapproved32474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
11Insulin, Globin Zinc4523
12insulin4524
13Laxatives520
14Cathartics520

Interventional clinical trials:

idNameStatusNCT IDPhase
1Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
2Betaine and Peroxisome Biogenesis DisordersCompletedNCT01838941Phase 3
3Guidance in Diet and Physical Activity for Prevention of Weight Gain After Gastric Bypass SurgeryCompletedNCT01270451
4Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
5Study of Bile Acids in Patients With Peroxisomal DisordersTerminatedNCT00004442

Search NIH Clinical Center for Refsum Disease


Cochrane evidence based reviews: refsum disease

Genetic Tests for Refsum Disease

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Genetic tests related to Refsum Disease:

id Genetic test Affiliating Genes
1 Refsum Disease, Adult, 126
2 Phytanic Acid Storage Disease26
3 Refsum Disease24

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

35
Eye, Heart, Skin, Liver, Bone, Skeletal muscle, Brain

Animal Models for Refsum Disease or affiliated genes

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MGI Mouse Phenotypes related to Refsum Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.5ABCA4, BEST1, C2orf71, CRX, PDE6B, PRPH2
2MP:000538410.5BEST1, C2orf71, IFT140, PANK2, PDE6B, PEX7
3MP:000538510.5ABCA4, CRX, IFT140, PDE6B, PEX7, PRPH2
4MP:00036319.9ABCA4, C2orf71, CRX, IFT140, PANK2, PDE6B
5MP:00053919.2ABCA4, BEST1, C2orf71, CRX, IFT140, PANK2

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 76)
idTitleAuthorsYear
1
Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated I^-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. (27886192)
2017
2
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. (27221287)
2016
3
Audiological findings in Infantile Refsum disease. (26055198)
2015
4
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
5
Conventional and advanced MR imaging in infantile Refsum disease. (26701952)
2015
6
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. (26303611)
2015
7
Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease. (23151916)
2013
8
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
9
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
10
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
11
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. (21570468)
2011
12
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
13
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
14
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. (19703563)
2009
15
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. (17905308)
2008
16
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
17
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
18
Phenotype of adult Refsum disease due to a defect in peroxin 7. (17325280)
2007
19
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
20
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
21
The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. (15649701)
2005
22
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
23
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
24
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
25
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
26
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
27
Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation. (12034140)
2002
28
Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. (11724659)
2001
29
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
30
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
31
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
32
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
33
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene. (9657395)
1998
34
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. (9671729)
1998
35
Identification of PAHX, a Refsum disease gene. (9326939)
1997
36
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (9326940)
1997
37
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
38
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
39
Refsum Disease (20301527)
1993
40
Autopsy findings in two siblings with infantile Refsum disease. (1373019)
1992
41
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. (1282471)
1992
42
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. (1374125)
1992
43
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. (1279267)
1992
44
MR findings in infantile Refsum disease: case report of two family members. (1722384)
1991
45
Infantile Refsum disease. (1722385)
1991
46
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
47
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. (2430454)
1986
48
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (2426710)
1986
49
Location of double bonds in two unsaturated forms of phytanic acid from Refsum disease as determined by mass spectrometry. (6190513)
1983
50
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (6160883)
1980

Variations for Refsum Disease

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UniProtKB/Swiss-Prot genetic disease variations for Refsum Disease:

69 (show all 14)
id Symbol AA change Variation ID SNP ID
1PHYHp.Asn269HisVAR_005525rs104894179
2PHYHp.Arg275TrpVAR_005526rs28939671
3PHYHp.Pro173SerVAR_017483
4PHYHp.Gln176LysVAR_017484rs28939672
5PHYHp.Asp177GlyVAR_017485rs770262329
6PHYHp.Trp193ArgVAR_017486
7PHYHp.Glu197GlnVAR_017487
8PHYHp.Ile199PheVAR_017488
9PHYHp.Gly204SerVAR_017489rs28939673
10PHYHp.His220TyrVAR_017490rs767216891
11PHYHp.Phe257SerVAR_017492
12PHYHp.Arg275GlnVAR_017493rs28939674
13PHYHp.Asn83TyrVAR_018619
14PHYHp.His175ArgVAR_018631

Clinvar genetic disease variations for Refsum Disease:

5 (show all 55)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)SNVPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)SNVPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)SNVPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)SNVPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> CSNVPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)SNVPathogenicrs527236088GRCh37Chr 4, 654392: 654392
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)SNVPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)SNVPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)SNVPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)SNVPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.5(CRX): c.193G> C (p.Asp65His)SNVPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)SNVPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)SNVPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)SNVPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)SNVPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)SNVPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)SNVPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)SNVPathogenicrs372989281GRCh38Chr 11, 61958194: 61958194
21TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicrs527236116GRCh37Chr 9, 32541966: 32541969
22SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)SNVPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)SNVPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)SNVPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)SNVPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)SNVPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)SNVPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)SNVPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> ASNVPathogenicrs727504075GRCh37Chr 4, 658734: 658734
31RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
32ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicrs863223338GRCh38Chr 1, 94044736: 94044736
33PDE6BNM_000283.3(PDE6B): c.1060-1G> TSNVPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)SNVPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)SNVPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)SNVPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)SNVPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)SNVPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)SNVPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41PHYHNM_006214.3(PHYH): c.766_767delGT (p.Val256Phefs)deletionLikely pathogenicrs797045100GRCh37Chr 10, 13325751: 13325752
42PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)SNVLikely pathogenic, Pathogenicrs876657718GRCh37Chr 4, 619706: 619706
43USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
44USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
45USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)SNVPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
46RCBTB1NM_018191.3(RCBTB1): c.919G> A (p.Val307Met)SNVLikely pathogenic, Pathogenicrs368217569GRCh37Chr 13, 50123720: 50123720
47RCBTB1NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys)SNVLikely pathogenic, Pathogenicrs772592456GRCh37Chr 13, 50123709: 50123709
48RCBTB1NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr)SNVLikely pathogenic, Pathogenicrs200826424GRCh37Chr 13, 50123666: 50123666
49RCBTB1NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe)SNVLikely pathogenic, Pathogenicrs879255547GRCh37Chr 13, 50118881: 50118881
50PEX7NM_000288.3(PEX7): c.-45C> TSNVPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759
51USH2ANM_206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
52TULP1NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)SNVPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
53PEX7NM_000288.3(PEX7): c.340-10A> GSNVPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743
54PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)SNVPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
55RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)SNVPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Refsum Disease

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Search GEO for disease gene expression data for Refsum Disease.

Pathways for genes affiliated with Refsum Disease

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GO Terms for genes affiliated with Refsum Disease

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Cellular components related to Refsum Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.8RDH12, RHO
2photoreceptor disc membraneGO:009738110.8ABCA4, PDE6B, RHO
3photoreceptor connecting ciliumGO:003239110.5IFT140, RP1, TOPORS
4photoreceptor outer segment membraneGO:004262210.4RHO, ROM1
5ciliary basal bodyGO:003606410.3IFT140, RPGR, TOPORS
6photoreceptor inner segmentGO:000191710.1C2orf71, RHO, RP1, TULP1
7photoreceptor outer segmentGO:000175010.0ABCA4, C2orf71, IFT140, PRPH2, RHO, RP1

Biological processes related to Refsum Disease according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.9PDE6B, RHO
2intraciliary transportGO:004207310.8IFT140, RPGR
3protein localization to photoreceptor outer segmentGO:190354610.8C2orf71, TULP1
4retinal rod cell developmentGO:004654810.8RP1, TOPORS
5rhodopsin mediated signaling pathwayGO:001605610.8PDE6B, RHO
6detection of light stimulus involved in visual perceptionGO:005090810.8BEST1, TULP1
7regulation of rhodopsin mediated signaling pathwayGO:002240010.7PDE6B, RHO
8phototransduction, visible lightGO:000760310.7ABCA4, PDE6B, RHO, RP1
9photoreceptor cell outer segment organizationGO:003584510.5C2orf71, IFT140, RP1, TOPORS
10retinal cone cell developmentGO:004654910.4RP1, TOPORS
11retinoid metabolic processGO:000152310.4ABCA4, RDH12, RHO
12retina development in camera-type eyeGO:006004110.1IFT140, PDE6B, PRPH2, RHO, RP1, TULP1
13photoreceptor cell maintenanceGO:004549410.0ABCA4, RDH12, RHO, RP1, TULP1
14response to stimulusGO:005089610.0C2orf71, CRX, PRCD, RDH12, RPGR
15visual perceptionGO:00076018.9ABCA4, BEST1, C2orf71, CRX, IMPG2, PDE6B

Sources for Refsum Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet