MCID: RFS001
MIFTS: 60

Refsum Disease malady

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

Aliases & Classifications for Refsum Disease

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Refsum Disease:

Name: Refsum Disease 50 11 22 46 23 24 47 13 52 68 12 48 37 66
Heredopathia Atactica Polyneuritiformis 11 46 24 47 52 68
Phytanic Acid Storage Disease 23 24 47 25
Adult Refsum Disease 22 23 24 52
Phytanic Acid Oxidase Deficiency 46 23 68
Refsum's Disease 11 24 68
Refsum Syndrome 22 23 24
Hereditary Motor and Sensory Neuropathy Iv 23 68
Classic Refsum Disease 24 52
Hmsn Type Iv 11 24
Hmsn Iv 24 68
Hmsn 4 46 52
Hereditary Motor and Sensory Neuropathy Type Iv 24
 
Hereditary Sensory and Motor Neuropathy Type 4 46
Hereditary Motor and Sensory Neuropathy Type 4 52
Phytanic-Coa Hydroxylase Deficiency 52
Hypertrophic Neuropathy of Refsum 46
Disorder of Cornification 11 46
Refsum Disease, Adult, 1 25
Retinitis Pigmentosa 66
Hsmn Iv 11
Doc 11 46
Hmsn4 68
Crd 24
Ard 24
Rd 68

Characteristics:

Orphanet epidemiological data:

52
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

62
refsum disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 266500
Disease Ontology11 DOID:10582
ICD1028 G60.1
ICD9CM30 356.3
MeSH37 D012035
NCIt43 C85043
SNOMED-CT60 25362006
Orphanet52 ORPHA773
ICD10 via Orphanet29 G60.1
MESH via Orphanet38 D012035
UMLS via Orphanet67 C0034960

Summaries for Refsum Disease

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OMIM:50 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 refsum disease, infantile form and peroxisome biogenesis disorder 1b, and has symptoms including sensorineural hearing impairment, retinopathy and cataract. An important gene associated with Refsum Disease is PHYH (Phytanoyl-CoA 2-Hydroxylase). Affiliated tissues include eye, heart and skin, and related mouse phenotypes are pigmentation and cardiovascular system.

Genetics Home Reference:24 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:46 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

NINDS:47 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

GeneReviews summary 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1refsum disease, infantile form12.2
2peroxisome biogenesis disorder 1b12.0
3refsum disease with increased pipecolic acidemia11.9
4pex7-related refsum disease11.9
5phyh-related refsum disease11.9
6acute respiratory distress syndrome11.5
7peroxisome biogenesis disorder 9b11.5
8cone-rod dystrophy11.5
9respiratory distress syndrome in premature infants11.4
10cortisone reductase deficiency 111.3
11respiratory distress syndrome, infant11.0
12spondylometaphyseal dysplasia with cone-rod dystrophy11.0
13reticular dysgenesis10.9
14restrictive dermopathy, lethal10.9
15adult respiratory distress syndrome10.9
16chylomicron retention disease10.9
17daneman davy mancer syndrome10.9
18unilateral absence of a pulmonary artery10.5RP1, RPGR
19bladder disease10.5BEST1, PRPH2
20muscular dystrophy-dystroglycanopathy , type b, 510.5CRX, RPGR
21methylmalonic aciduria, mut(0) type10.5BEST1, IMPG2, PRPH2
22macular dystrophy, patterned, 110.5PRPH2, ROM1
23leukodystrophy, hypomyelinating, 510.4BEST1, PDE6B
24polyneuropathy10.4
25neuropathy10.4
26hereditary neuropathies10.4
27fundus pulverulentus10.4PRPH2, ROM1
28branchiootorenal spectrum disorders10.4BEST1, ROM1
29x-linked infantile nystagmus10.3ABCA4, PRPH2
30natural killer cell and glucocorticoid deficiency with dna repair defect10.3PRPH2, RP1
31cortisone reductase deficiency 210.2
32peroxisome disorders10.2
33peroxisome biogenesis disorder 1a10.2
34partial fetal alcohol syndrome10.1BEST1, IMPG2, PRPH2, ROM1
35senile reticular retinal degeneration10.1BEST1, PRPH2, ROM1, RPGR
36hereditary motor and sensory neuropathy v10.1
37adrenoleukodystrophy10.0
38retinitis10.0
39zellweger syndrome10.0
40very long-chain acyl-coenzyme a dehydrogenase deficiency10.0RPGR, USH2A
41zellweger spectrum10.0
42macular degeneration, x-linked atrophic10.0ABCA4, RPGR
43stargardt disease 110.0ABCA4, ROM1
44melanoma10.0
45retinitis pigmentosa10.0
46rhizomelic chondrodysplasia punctata10.0
47neonatal adrenoleukodystrophy10.0
48ataxia10.0
49peroxisome biogenesis disorder 6b10.0
50peroxisome biogenesis disorder 11b10.0

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

Symptoms:

 52 (show all 38)
  • renal insufficiency
  • anosmia
  • abnormality of the eye
  • retinopathy
  • abnormality of eye movement
  • abnormality of vision
  • visual impairment
  • ptosis
  • cataract
  • progressive visual loss
  • microphthalmos
  • nystagmus
  • night blindness
  • dry skin
  • ataxia
  • cardiomyopathy
  • splenomegaly
  • sensorineural hearing impairment
  • miosis
  • muscular hypotonia
  • abnormality of the foot
  • pes cavus
  • hammertoe
  • abnormality of metabolism/homeostasis
  • respiratory insufficiency
  • nail dysplasia
  • developmental regression
  • skeletal dysplasia
  • skeletal muscle atrophy
  • hemiplegia/hemiparesis
  • abnormality of epiphysis morphology
  • abnormal pyramidal signs
  • abnormal retinal pigmentation
  • ichthyosis
  • peripheral neuropathy
  • short metacarpal
  • intellectual disability, severe
  • heart block

HPO human phenotypes related to Refsum Disease:

(show all 57)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 retinopathy hallmark (90%) HP:0000488
3 cataract hallmark (90%) HP:0000518
4 dry skin hallmark (90%) HP:0000958
5 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
6 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
7 neurological speech impairment hallmark (90%) HP:0002167
8 incoordination hallmark (90%) HP:0002311
9 skeletal dysplasia hallmark (90%) HP:0002652
10 hemiplegia/hemiparesis hallmark (90%) HP:0004374
11 abnormality of the sense of smell hallmark (90%) HP:0004408
12 abnormal pyramidal signs hallmark (90%) HP:0007256
13 abnormality of retinal pigmentation hallmark (90%) HP:0007703
14 ichthyosis hallmark (90%) HP:0008064
15 peripheral neuropathy hallmark (90%) HP:0009830
16 ptosis typical (50%) HP:0000508
17 abnormality of the pupil typical (50%) HP:0000615
18 abnormality of the metacarpal bones typical (50%) HP:0001163
19 muscular hypotonia typical (50%) HP:0001252
20 splenomegaly typical (50%) HP:0001744
21 camptodactyly of toe typical (50%) HP:0001836
22 developmental regression typical (50%) HP:0002376
23 skeletal muscle atrophy typical (50%) HP:0003202
24 abnormality of epiphysis morphology typical (50%) HP:0005930
25 cognitive impairment typical (50%) HP:0100543
26 renal insufficiency occasional (7.5%) HP:0000083
27 visual impairment occasional (7.5%) HP:0000505
28 nystagmus occasional (7.5%) HP:0000639
29 pes cavus occasional (7.5%) HP:0001761
30 respiratory insufficiency occasional (7.5%) HP:0002093
31 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
32 arrhythmia occasional (7.5%) HP:0011675
33 abnormal renal physiology rare (5%) HP:0012211
34 sensorineural hearing impairment HP:0000407
35 anosmia HP:0000458
36 ptosis HP:0000508
37 rod-cone dystrophy HP:0000510
38 cataract HP:0000518
39 retinal degeneration HP:0000546
40 miosis HP:0000616
41 nystagmus HP:0000639
42 nyctalopia HP:0000662
43 ataxia HP:0001251
44 hyporeflexia HP:0001265
45 congestive heart failure HP:0001635
46 cardiomyopathy HP:0001638
47 cardiomegaly HP:0001640
48 pes cavus HP:0001761
49 multiple epiphyseal dysplasia HP:0002654
50 increased csf protein HP:0002922
51 sensory impairment HP:0003474
52 limb muscle weakness HP:0003690
53 short fourth metatarsal HP:0004689
54 sensorimotor neuropathy HP:0007141
55 ichthyosis HP:0008064
56 elevated levels of phytanic acid HP:0010571
57 arrhythmia HP:0011675

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BetainePhase 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
2insulin4401
3
Ursodeoxycholic acid83128-13-231401
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
4
chenodeoxycholic acid28474-25-910133
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

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, 125
2 Phytanic Acid Storage Disease25
3 Refsum Disease23

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

34
Eye, Heart, Skin, Bone, Liver, Skeletal muscle, Brain

Animal Models for Refsum Disease or affiliated genes

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MGI Mouse Phenotypes related to Refsum Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2ABCA4, BEST1, C2orf71, CRB1, CRX, PDE6B
2MP:00053859.7ABCA4, CRX, IFT140, PDE6B, PEX7, PRPH2
3MP:00036319.3ABCA4, C2orf71, CRB1, CRX, IFT140, PANK2
4MP:00053919.2ABCA4, BEST1, C2orf71, CRB1, CRX, IFT140

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. (27221287)
2016
2
Audiological findings in Infantile Refsum disease. (26055198)
2015
3
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
4
Conventional and advanced MR imaging in infantile Refsum disease. (26701952)
2015
5
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. (26303611)
2015
6
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
7
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
8
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
9
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
10
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
11
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
12
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
13
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
14
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
15
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
16
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
17
Phenotype of adult Refsum disease due to a defect in peroxin 7. (17325280)
2007
18
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
19
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
20
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
21
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
22
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
23
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
24
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
25
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
26
Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation. (12034140)
2002
27
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
28
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
29
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
30
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
31
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
32
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene. (9657395)
1998
33
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
34
Identification of PAHX, a Refsum disease gene. (9326939)
1997
35
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (9326940)
1997
36
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
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:

68 (show all 15)
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.Arg245GlnVAR_017491rs62619919
12PHYHp.Phe257SerVAR_017492
13PHYHp.Arg275GlnVAR_017493rs28939674
14PHYHp.Asn83TyrVAR_018619
15PHYHp.His175ArgVAR_018631

Clinvar genetic disease variations for Refsum Disease:

5 (show all 52)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicrs527236088GRCh38Chr 4, 660603: 660603
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13NM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs527236092GRCh38Chr 17, 76540143: 76540143
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicrs372989281GRCh38Chr 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)single nucleotide variantPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> Asingle nucleotide variantPathogenicrs727504075GRCh37Chr 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> Tsingle nucleotide variantPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 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)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
45USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
46ACACBNM_001093.3(ACACB): c.4967G> C (p.Gly1656Ala)single nucleotide variantPathogenicrs878855330GRCh38Chr 12, 109241226: 109241226
47PEX7NM_000288.3(PEX7): c.-45C> Tsingle nucleotide variantPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759
48USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
49TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
50PEX7NM_000288.3(PEX7): c.340-10A> Gsingle nucleotide variantPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743
51PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
52RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 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 disc membraneGO:009738110.8ABCA4, PDE6B
2photoreceptor connecting ciliumGO:003239110.4IFT140, RP1, TOPORS, USH2A
3primary ciliumGO:007237210.3C2orf71, IFT140, RPGR
4ciliary basal bodyGO:003606410.2IFT140, RPGR, TOPORS, USH2A
5photoreceptor inner segmentGO:000191710.1C2orf71, RP1, TULP1, USH2A
6photoreceptor outer segmentGO:000175010.1ABCA4, C2orf71, IFT140, PRPH2, RP1, RPGR

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1intraciliary transportGO:004207310.8IFT140, RPGR
2protein localization to photoreceptor outer segmentGO:190354610.8C2orf71, TULP1
3retinal cone cell developmentGO:004654910.8RP1, TOPORS
4retinal rod cell developmentGO:004654810.8RP1, TOPORS
5phototransduction, visible lightGO:000760310.8ABCA4, PDE6B, RP1
6eye photoreceptor cell developmentGO:004246210.6CRB1, TULP1
7detection of light stimulus involved in visual perceptionGO:005090810.6BEST1, EYS, TULP1
8photoreceptor cell outer segment organizationGO:003584510.5C2orf71, IFT140, RP1, TOPORS
9response to stimulusGO:005089610.3C2orf71, CRX, RPGR, USH2A
10retina development in camera-type eyeGO:006004110.0IFT140, PDE6B, PRPH2, RP1, TULP1
11photoreceptor cell maintenanceGO:00454949.8ABCA4, RP1, TULP1, USH2A
12visual perceptionGO:00076019.2ABCA4, BEST1, C2orf71, CRX, IMPG2, PDE6B

Sources for Refsum Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet