MCID: RFS001
MIFTS: 65

Refsum Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Refsum Disease

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

Aliases & Descriptions for Refsum Disease:

Name: Refsum Disease 49 10 11 21 45 23 46 47 12 51 65 36 67
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 Sensory and Motor Neuropathy Type 4 45 22
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 Motor and Sensory Neuropathy Iv 67
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
Ard 23
Crd 23
Rd 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 leukemia and chylomicron retention disease, 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 The phototransduction cascade and Visual Cycle in Retinal Rods. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are pigmentation and cardiovascular system.

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.

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

NINDS:46 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

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.

Wikipedia:68 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

GeneReviews summary for refsum

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 470)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia28.9ABCA4, BEST1, IFT140, PDE6B, PHYH, PRPH2
2chylomicron retention disease27.8ABCA4, BEST1, C2orf71, IFT140, IMPG2, PANK2
3acute respiratory distress syndrome10.9
4adult respiratory distress syndrome10.9
5adult acute respiratory distress syndrome10.9
6newborn respiratory distress syndrome10.9
7respiratory distress syndrome, infant10.9
8respiratory system disease10.9
9adult syndrome10.9
10infant acute respiratory distress syndrome10.9
11severe acute respiratory syndrome10.7
12acute chest syndrome10.7
13respiratory failure10.7
14peroxisome biogenesis disorder 1b10.6
15neonatal respiratory failure10.6
16neuropathy10.6
17polyneuropathy10.6
18hereditary neuropathies10.6
19child syndrome10.6
20acute pulmonary heart disease10.6
21kid syndrome10.6
22pneumonia10.5
23retinal degeneration10.5
24rhabdomyosarcoma10.5
25refsum disease, infantile form10.5
26bronchopulmonary dysplasia10.4
27vein disease10.4
28c syndrome10.4
29spondylosis10.4
30ventilation pneumonitis10.4
31pulmonary edema10.4
32peroxisome biogenesis disorder 9b10.4
33peroxisome biogenesis disorder 1a10.4
34intermediate coronary syndrome10.4
35adjustment disorder10.4
36influenza10.3
37sepsis in premature infants10.3
38peroxisome disorders10.3
39refsum disease with increased pipecolic acidemia10.3
40pulmonary valve insufficiency10.3
41cork-handlers' disease10.3
42acute stress disorder10.3
43congenital heart disease10.3
44upper respiratory tract disease10.3
45cortisone reductase deficiency 110.3
46n syndrome10.3
47good syndrome10.3
48acute cor pulmonale10.3
49wells syndrome10.3
50choroiditis10.3

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 58)
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 autosomal recessive inheritance HP:0000007
35 sensorineural hearing impairment HP:0000407
36 anosmia HP:0000458
37 ptosis HP:0000508
38 rod-cone dystrophy HP:0000510
39 cataract HP:0000518
40 retinal degeneration HP:0000546
41 miosis HP:0000616
42 nystagmus HP:0000639
43 nyctalopia HP:0000662
44 ataxia HP:0001251
45 hyporeflexia HP:0001265
46 congestive heart failure HP:0001635
47 cardiomyopathy HP:0001638
48 cardiomegaly HP:0001640
49 pes cavus HP:0001761
50 multiple epiphyseal dysplasia HP:0002654
51 increased csf protein HP:0002922
52 sensory impairment HP:0003474
53 limb muscle weakness HP:0003690
54 short fourth metatarsal HP:0004689
55 sensorimotor neuropathy HP:0007141
56 ichthyosis HP:0008064
57 elevated levels of phytanic acid HP:0010571
58 arrhythmia HP:0011675

Drugs & Therapeutics for Refsum Disease

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Cholic AcidsPhase 37
2Bile Acids and SaltsPhase 380
3
BetainePhase 331107-43-7247
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
4
chenodeoxycholic acidapproved23474-25-910133
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
5
Ursodeoxycholic acidapproved, investigational74128-13-231401
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
6Insulin, Globin Zinc4069
7insulin4069
8Laxatives278
9Cathartics278

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
2 Refsum Disease, Adult, 124
3 Phytanic Acid Storage Disease24

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

33
Eye, Skin, Heart, Bone, Liver, Olfactory bulb, Skeletal muscle

Animal Models for Refsum Disease or affiliated genes

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MGI Mouse Phenotypes related to Refsum Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2ABCA4, BEST1, PDE6B, PRPH2, RHO, RPE65
2MP:00053859.8ABCA4, IFT140, PDE6B, PEX7, PRPH2, RHO
3MP:00036319.1ABCA4, IFT140, PANK2, PDE6B, PEX7, PHYH
4MP:00053919.0ABCA4, BEST1, IFT140, PANK2, PDE6B, PEX7

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Audiological findings in Infantile Refsum disease. (26055198)
2015
2
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
3
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. (24920240)
2014
4
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
5
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
6
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
7
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
8
Infantile refsum disease with enamel defects: a case report. (21703082)
2011
9
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
10
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
11
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
12
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
13
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
14
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
15
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
16
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
17
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
18
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
19
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
20
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
21
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
22
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (14672712)
2004
23
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. (12700346)
2003
24
Identification of PEX7 as the second gene involved in Refsum disease. (14713215)
2003
25
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
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
Refsum disease, peroxisomes and phytanic acid oxidation: a review. (11706932)
2001
29
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
30
Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (10686344)
2000
31
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
32
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
33
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)
1999
34
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
35
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
36
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
37
Identification of PAHX, a Refsum disease gene. (9326939)
1997
38
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
39
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. (7526031)
1994
40
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
41
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. (1279267)
1992
42
Autopsy findings in two siblings with infantile Refsum disease. (1373019)
1992
43
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. (1282471)
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:

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 (show all 55)
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 variantPathogenicrs527236088GRCh37Chr 4, 654392: 654392
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 variantPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
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
25RDH12NM_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
30RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
31ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicGRCh38Chr 1, 94044736: 94044736
32PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 4, 650033: 650033
33RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicGRCh37Chr 8, 55534740: 55534740
34IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
35CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 197398685: 197398685
36CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicGRCh38Chr 1, 197421287: 197421287
37PANK2NM_024960.4(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicGRCh38Chr 20, 3912514: 3912514
38C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicGRCh37Chr 2, 29296416: 29296416
39RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
40PHYHNM_006214.3(PHYH): c.766_767delGT (p.Val256Phefs)deletionLikely pathogenicrs797045100GRCh37Chr 10, 13325751: 13325752
41USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
42USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
43USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
44PEX7NM_000288.3(PEX7): c.-45C> Tsingle nucleotide variantPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759
45USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
46TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
47PEX7NM_000288.3(PEX7): c.653C> T (p.Ala218Val)single nucleotide variantPathogenicrs121909151GRCh37Chr 6, 137191047: 137191047
48PEX7NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs)duplicationPathogenicrs199470486GRCh37Chr 6, 137143848: 137143855
49PEX7NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter)single nucleotide variantPathogenicrs121909154GRCh37Chr 6, 137166758: 137166758
50PEX7NM_000288.3(PEX7): c.340-10A> Gsingle nucleotide variantPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743
51PEX7NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter)single nucleotide variantPathogenicrs61753238GRCh37Chr 6, 137143923: 137143923
52PEX7NM_000288.3(PEX7): c.12_18dupGTGCGGT (p.Gly7Valfs)duplicationPathogenicrs62636519GRCh37Chr 6, 137143815: 137143821
53PEX7NM_000288.3(PEX7): c.40A> C (p.Thr14Pro)single nucleotide variantPathogenicrs61753233GRCh37Chr 6, 137143843: 137143843
54PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
55RPE65NM_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 inner segment membraneGO:006034210.8RDH12, RHO
2photoreceptor disc membraneGO:009738110.7ABCA4, PDE6B, RHO
3photoreceptor outer segment membraneGO:004262210.5RHO, ROM1
4photoreceptor inner segmentGO:000191710.3RHO, RP1, TULP1, USH2A
5ciliary basal bodyGO:003606410.1IFT140, RPGR, TOPORS, USH2A
6ciliumGO:000592910.1IFT140, RP1, RPGR, TULP1
7photoreceptor connecting ciliumGO:003239110.1IFT140, RP1, RPGR, TOPORS, USH2A
8photoreceptor outer segmentGO:00017509.8ABCA4, C2orf71, IFT140, PDE6B, PRPH2, RHO

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.9PDE6B, RHO
2intraciliary transportGO:004207310.7IFT140, RPGR
3retinal rod cell developmentGO:004654810.7RP1, TOPORS
4retinal cone cell developmentGO:004654910.7RP1, TOPORS
5eye photoreceptor cell developmentGO:004246210.7RPGR, TULP1
6detection of light stimulus involved in visual perceptionGO:005090810.7BEST1, RPE65, TULP1
7photoreceptor cell outer segment organizationGO:003584510.6IFT140, RP1, TOPORS
8cellular response to light stimulusGO:007148210.6RHO, RP1, RPGR
9retina morphogenesis in camera-type eyeGO:006004210.6ROM1, RP1, RPE65, RPGR
10retinol metabolic processGO:004257210.3RDH12, RPE65
11retinoid metabolic processGO:000152310.2ABCA4, RDH12, RHO, RPE65
12sensory perception of light stimulusGO:005095310.2RHO, USH2A
13retina development in camera-type eyeGO:006004110.2IFT140, PDE6B, PRPH2, RHO, RP1, RPE65
14photoreceptor cell maintenanceGO:004549410.2ABCA4, RDH12, RHO, RP1, TULP1, USH2A
15phototransduction, visible lightGO:000760310.0ABCA4, PDE6B, RDH12, RHO, RP1, RPE65
16visual perceptionGO:00076019.2ABCA4, BEST1, C2orf71, IMPG2, PDE6B, PRPH2

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