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

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Refsum Disease:

Name: Refsum Disease 49 10 11 21 45 22 23 46 47 12 51 67 36 65
Heredopathia Atactica Polyneuritiformis 10 45 23 46 51 67
Phytanic Acid Storage Disease 22 23 46 24
Adult Refsum Disease 21 22 23 51
Phytanic Acid Oxidase Deficiency 45 22 67
Refsum's Disease 10 23 67
Refsum Syndrome 21 22 23
Hereditary Motor and Sensory Neuropathy Iv 22 67
Classic Refsum Disease 23 51
Hmsn Type Iv 10 23
Hmsn Iv 23 67
Hmsn 4 45 51
Hereditary Motor and Sensory Neuropathy Type Iv 23
 
Hereditary Motor and Sensory Neuropathy Type 4 51
Hereditary Sensory and Motor Neuropathy Type 4 45
Phytanic-Coa Hydroxylase Deficiency 51
Hypertrophic Neuropathy of Refsum 45
Disorder of Cornification 11 45
Refsum Disease, Adult, 1 24
Retinitis Pigmentosa 65
Hsmn Iv 10
Doc 11 45
Hmsn4 67
Crd 23
Ard 23
Rd 67

Characteristics:

Orphanet epidemiological data:

51
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

61
refsum disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 266500
Disease Ontology10 DOID:10582
ICD1027 G60.1
ICD9CM29 356.3
MeSH36 D012035
NCIt42 C85043
SNOMED-CT59 25362006
Orphanet51 773
ICD10 via Orphanet28 G60.1
MESH via Orphanet37 D012035
UMLS via Orphanet66 C0034960
UMLS65 C0034960

Summaries for Refsum Disease

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OMIM:49 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 9b and cortisone reductase deficiency 1, 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 Peroxisomal lipid metabolism and Peroxisome. Affiliated tissues include eye, heart and liver, and related mouse phenotypes are liver/biliary system and growth/size/body region.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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:46 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Genetics Home Reference:23 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.

Wikipedia:68 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 90)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b32.1HADHB, PEX5, PEX7, SCP2
2cortisone reductase deficiency 131.5RPE65, USH2A
3peroxisome disorders29.8CAT, PEX1, PEX2, PEX5, PEX6, PEX7
4chondrodysplasia punctata29.3GNPAT, HADHB, PEX26, PEX5, PEX7, PHYH
5leukemia28.7PEX1, PHYH, RPE65, USH2A
6refsum disease, infantile form12.2
7peroxisome biogenesis disorder 1b12.0
8refsum disease with increased pipecolic acidemia11.9
9pex7-related refsum disease11.9
10phyh-related refsum disease11.9
11acute respiratory distress syndrome11.5
12cone-rod dystrophy11.5
13respiratory distress syndrome, infant11.0
14spondylometaphyseal dysplasia with cone-rod dystrophy11.0
15reticular dysgenesis10.9
16restrictive dermopathy, lethal10.9
17adult respiratory distress syndrome10.9
18chylomicron retention disease10.9
19daneman davy mancer syndrome10.9
20deafness goiter stippled epiphyses10.6PEX1, PEX6
21growth hormone deficiency, isolated, type ia10.4PEX1, PEX5, PEX7
22polyneuropathy10.4
23neuropathy10.4
24hereditary neuropathies10.4
25kiaa2022-related x-linked mental retardation10.4PEX2, PEX6
26multiple system atrophy with orthostatic hypotension10.4PEX2, PEX6
27cortisone reductase deficiency 210.2
28peroxisome biogenesis disorder 1a10.2
29hereditary motor and sensory neuropathy v10.1
30congenital disorder of glycosylation, type iig10.1CAT, PEX5, SCP2
31zellweger spectrum10.0
32adrenoleukodystrophy10.0
33retinitis10.0
34zellweger syndrome10.0
35melanoma10.0
36agammaglobulinemia10.0GNPAT, PEX26, PEX5, PEX7, PHYH
37peroxisome biogenesis disorder 6b10.0
38peroxisome biogenesis disorder 11b10.0
39peroxisome biogenesis disorder 4b10.0
40peroxisome biogenesis disorder 5b10.0
41peroxisome biogenesis disorder 2b10.0
42peroxisome biogenesis disorder 3b10.0
43peroxisome biogenesis disorder 7b10.0
44bladder carcinoma in situ10.0PEX1, PEX16, PEX2, PEX5, PEX6
45retinitis pigmentosa10.0
46rhizomelic chondrodysplasia punctata10.0
47neonatal adrenoleukodystrophy10.0
48ataxia10.0
49perrault syndrome 19.9HADHB, SCP2
50hiv-19.8

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:

 51 (show all 38)
  • anomalies of eyes and vision
  • cataract/lens opacification
  • retinopathy
  • retinitis pigmentosa/retinal pigmentary changes
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • anomalies of ear and hearing
  • sensorineural deafness/hearing loss
  • foot anomalies
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • cardiomyopathy/hypertrophic/dilated
  • peripheral neuropathy
  • ataxia/incoordination/trouble of the equilibrium
  • pyramidal syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metabolic anomalies
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • abnormal eye movements/oculomotor disorder
  • ptosis
  • metacarpal anomalies/archibald's sign
  • claw toes/retracted toes
  • storage liver disease
  • splenomegaly
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • epiphyseal anomaly
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • visual loss/blindness/amblyopia
  • nystagmus
  • pes cavus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • renal failure
  • autosomal recessive inheritance

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 arrhythmia HP:0011675
35 elevated levels of phytanic acid HP:0010571
36 ichthyosis HP:0008064
37 sensorimotor neuropathy HP:0007141
38 short fourth metatarsal HP:0004689
39 limb muscle weakness HP:0003690
40 sensory impairment HP:0003474
41 increased csf protein HP:0002922
42 multiple epiphyseal dysplasia HP:0002654
43 pes cavus HP:0001761
44 cardiomegaly HP:0001640
45 cardiomyopathy HP:0001638
46 congestive heart failure HP:0001635
47 hyporeflexia HP:0001265
48 ataxia HP:0001251
49 nyctalopia HP:0000662
50 nystagmus HP:0000639
51 miosis HP:0000616
52 retinal degeneration HP:0000546
53 cataract HP:0000518
54 rod-cone dystrophy HP:0000510
55 ptosis HP:0000508
56 anosmia HP:0000458
57 sensorineural hearing impairment HP:0000407

UMLS symptoms related to Refsum Disease:


pigmented retinopathy nos, anosmia

Drugs & Therapeutics for Refsum Disease

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 386
2Liver ExtractsPhase 33572
3Gastrointestinal AgentsPhase 36401
4Cholic AcidsPhase 311
5
BetainePhase 332107-43-7247
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
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
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
6Hypolipidemic AgentsPhase 32228
7AntimetabolitesPhase 39454
8
Ursodeoxycholic acidapproved, investigational78128-13-231401
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 Tablets, 250 mg
Ursodiol Tablets, 500 mg
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
9
chenodeoxycholic acidapproved25474-25-910133
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
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
10Insulin, Globin Zinc4278
11insulin4278
12Cathartics344
13Laxatives344

Interventional clinical trials:

idNameStatusNCT IDPhase
1Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
2Betaine and Peroxisome Biogenesis DisordersRecruitingNCT01838941Phase 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 Disease22

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

33
Eye, Heart, Liver, Skin, Bone, Lung, Breast

Animal Models for Refsum Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Refsum Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6AMACR, HADHB, PEX1, PEX2, PEX5, PEX7
2MP:00053786.9AMACR, GLMN, GNPAT, HADHB, OGDH, PEX1
3MP:00053766.5AMACR, CAT, GLMN, GNPAT, HADHB, PEX1
4MP:00107686.2AMACR, CAT, GLMN, GNPAT, HADHB, OGDH

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. (26799636)
2016
2
Audiological findings in Infantile Refsum disease. (26055198)
2015
3
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
4
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. (24920240)
2014
5
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
6
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
7
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
8
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
9
Infantile refsum disease with enamel defects: a case report. (21703082)
2011
10
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
11
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
12
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
13
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
14
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
15
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
16
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
17
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
18
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
19
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
20
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
21
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
22
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
23
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (14672712)
2004
24
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. (12700346)
2003
25
Identification of PEX7 as the second gene involved in Refsum disease. (14713215)
2003
26
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
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
Refsum disease, peroxisomes and phytanic acid oxidation: a review. (11706932)
2001
30
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
31
Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (10686344)
2000
32
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
33
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
34
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)
1999
35
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
36
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
37
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
38
Identification of PAHX, a Refsum disease gene. (9326939)
1997
39
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
40
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. (7526031)
1994
41
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
42
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. (1279267)
1992
43
Autopsy findings in two siblings with infantile Refsum disease. (1373019)
1992
44
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. (1282471)
1992
45
MR findings in infantile Refsum disease: case report of two family members. (1722384)
1991
46
Infantile Refsum disease. (1722385)
1991
47
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
48
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. (2430454)
1986
49
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (2426710)
1986
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:

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1PHYHp.Asn269HisVAR_005525
2PHYHp.Arg275TrpVAR_005526rs28939671
3PHYHp.Pro173SerVAR_017483
4PHYHp.Gln176LysVAR_017484rs28939672
5PHYHp.Asp177GlyVAR_017485
6PHYHp.Trp193ArgVAR_017486
7PHYHp.Glu197GlnVAR_017487
8PHYHp.Ile199PheVAR_017488
9PHYHp.Gly204SerVAR_017489rs28939673
10PHYHp.His220TyrVAR_017490
11PHYHp.Arg245GlnVAR_017491rs62619919
12PHYHp.Phe257SerVAR_017492
13PHYHp.Arg275GlnVAR_017493rs28939674
14PHYHp.Asn83TyrVAR_018619
15PHYHp.His175ArgVAR_018631

Clinvar genetic disease variations for Refsum Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
2PHYHNM_006214.3(PHYH): c.766_767delGT (p.Val256Phefs)deletionLikely pathogenicrs797045100GRCh37Chr 10, 13325751: 13325752
3USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
4USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
5PEX7NM_000288.3(PEX7): c.-45C> Tsingle nucleotide variantPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759
6PEX7NM_000288.3(PEX7): c.340-10A> Gsingle nucleotide variantPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743

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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Pathways related to Refsum Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3AMACR, GNPAT, PHYH, SCP2
26.8AMACR, CAT, GNPAT, PEX1, PEX14, PEX16

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
1peroxisomal membraneGO:00057789.7CAT, PEX14, PEX16
2peroxisomeGO:00057779.6PEX1, PEX14, PEX6

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

idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome matrixGO:001655810.2PEX16, PEX5
2protein targeting to peroxisomeGO:000662510.1PEX16, PEX5
3protein import into peroxisome matrix, dockingGO:00165609.9PEX14, PEX5
4glycerophospholipid biosynthetic processGO:00464749.3GNPAT, HADHB

Sources for Refsum Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet