MCID: RFS001
MIFTS: 57

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, 24GTR, 65UMLS, 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 Sensory and Motor Neuropathy Type 4 45
Hereditary Motor and Sensory Neuropathy Type 4 51
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, skin 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 130)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b32.7HADHB, PEX5, PEX7, SCP2
2cortisone reductase deficiency 132.2RPE65, USH2A
3leukemia29.6PEX1, PHYH, RPE65, USH2A
4refsum disease, infantile form12.6
5peroxisome biogenesis disorder 1b12.4
6refsum disease with increased pipecolic acidemia12.3
7pex7-related refsum disease12.3
8phyh-related refsum disease12.3
9acute respiratory distress syndrome11.7
10cone-rod dystrophy11.7
11respiratory distress syndrome, infant11.4
12spondylometaphyseal dysplasia with cone-rod dystrophy11.4
13adult respiratory distress syndrome11.3
14adult acute respiratory distress syndrome11.3
15infant acute respiratory distress syndrome11.3
16chylomicron retention disease11.3
17daneman davy mancer syndrome11.3
18serotonin syndrome10.9
19cortisone reductase deficiency 210.6
20peroxisome biogenesis disorder 1a10.6
21hereditary motor and sensory neuropathy v10.5
22zellweger spectrum10.4
23deafness goiter stippled epiphyses10.4PEX1, PEX6
24colorectal cancer10.4
25peroxisome biogenesis disorder 6b10.4
26peroxisome biogenesis disorder 11b10.4
27peroxisome biogenesis disorder 4b10.4
28peroxisome biogenesis disorder 5b10.4
29peroxisome biogenesis disorder 2b10.4
30peroxisome biogenesis disorder 3b10.4
31peroxisome biogenesis disorder 7b10.4
32arthritis10.3
33growth hormone deficiency, isolated, type ia10.3PEX1, PEX5, PEX7
34kiaa2022-related x-linked mental retardation10.3PEX2, PEX6
35multiple system atrophy with orthostatic hypotension10.3PEX2, PEX6
36rheumatoid arthritis10.2
37cholangiocarcinoma10.2
38adenocarcinoma10.2
39intrahepatic cholangiocarcinoma10.2
40peroxisome biogenesis disorder 6a10.2
41peroxisome biogenesis disorder 13a10.2
42peroxisome biogenesis disorder 12a10.2
43peroxisome biogenesis disorder 11a10.2
44peroxisome biogenesis disorder 4a10.2
45peroxisome biogenesis disorder 10a10.2
46peroxisome biogenesis disorder 5a10.2
47peroxisome biogenesis disorder 8a,10.2
48peroxisome biogenesis disorder 8b10.2
49peroxisome biogenesis disorder 2a10.2
50peroxisome biogenesis disorder 3a10.2

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

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, Skin, Liver, Heart, Bone, Lung, Olfactory bulb

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: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 71)
idTitleAuthorsYear
1
Targeting a Plk1-controlled polarity checkpoint in therapy-resistant glioblastoma-propagating cells. (26573800)
2015
2
Multimodal therapy for category III chronic prostatitis/chronic pelvic pain syndrome in UPOINTS phenotyped patients. (25667610)
2015
3
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. (24671628)
2014
4
Effects of atorvastatin on biomarkers of inflammation in chronic kidney disease. (24321183)
2014
5
The Alzheimer's prevention initiative composite cognitive test score: sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 E280A mutation carriers. (24816373)
2014
6
Human Brucellosis in Northwest Ecuador: Typifying Brucella spp., Seroprevalence, and Associated Risk Factors. (24410144)
2014
7
Selenoprotein P in seminal fluid is a novel biomarker of sperm quality. (24361887)
2014
8
Association of late-onset neonatal sepsis with late neurodevelopment in the first two years of life of preterm infants with very low birth weight. (24148798)
2014
9
Report of a preliminary discontinued double-blind, randomized, placebo-controlled trial of the anti-TNF-I+ chimeric monoclonal antibody infliximab in complex regional pain syndrome. (23692303)
2013
10
Decade long unexplained anemia: alert to ANCA associated vasculitis. (23474930)
2013
11
Inhaled nitric oxide and cerebral malaria: basis of a strategy for buying time for pharmacotherapy. (22760538)
2012
12
A^a8,F]Fluorodeoxyglucose positron emission tomography-guided therapy in metastatic adrenocortical carcinoma: an illustrative case. (22649135)
2012
13
Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS. (21257910)
2011
14
Primary primitive neuroectodermal tumor of the bladder: histologic and clinical features of 9 cases. (21729681)
2011
15
Association analysis of the poliovirus receptor related-2 gene in patients with nonsyndromic cleft lip with or without cleft palate. (20662561)
2010
16
Induction of apoptosis in human leukemia cells by grape seed extract occurs via activation of c-Jun NH2-terminal kinase. (19118041)
2009
17
Efficacy of lamivudine on hepatitis B viral status and liver function in patients with hepatitis B virus-related hepatocellular carcinoma. (18662281)
2009
18
Selective influences in the expressed immunoglobulin heavy and light chain gene repertoire in hairy cell leukemia. (18387977)
2008
19
Comparison of hypoplastic myelodysplastic syndrome (MDS) with normo-/hypercellular MDS by International Prognostic Scoring System, cytogenetic and genetic studies. (18094713)
2008
20
Control of Her-2 tumor immunity and thyroid autoimmunity by MHC and regulatory T cells. (17638915)
2007
21
Effects of combined UDP-glucuronosyltransferase (UGT) 1A1*28 and 1A6*2 on paracetamol pharmacokinetics in beta-thalassemia/HbE. (17164591)
2007
22
Simultaneous analysis of lysine, Nepsilon-carboxymethyllysine and lysinoalanine from proteins. (17997368)
2007
23
Testicular seminoma associated with massive necrosis. (16984568)
2006
24
Regulation of the human growth hormone gene family: possible role for Pit-1 in early stages of pituitary-specific expression and repression. (17047377)
2006
25
Differential c-erbB-1 and c-erbB-2 mRNA expression in cancer of the pancreas compared with cancer of the papilla of Vater. (16489645)
2006
26
Relationship between SPRY and B30.2 protein domains. Evolution of a component of immune defence? (16313355)
2005
27
Effects of tirofiban and statins on high-sensitivity C-reactive protein, interleukin-6, and soluble CD40 ligand following percutaneous coronary interventions in patients with stable coronary artery disease. (15642557)
2005
28
Monocyte chemoattractant protein-1: a key mediator of angiotensin II-induced target organ damage in hypertensive heart disease? (15076146)
2004
29
Lung wedge resection improves outcome in stage I primary spontaneous pneumothorax. (15111189)
2004
30
Interaction, cooperative promoter modulation, and renal colocalization of GCMa and Pitx2. (15385555)
2004
31
Somatic mutations of KIT in familial testicular germ cell tumours. (15150569)
2004
32
Suppression of P-glycoprotein gene expression in Hs578T/Dox by the overexpression of caveolin-1. (15498565)
2004
33
Epilepsy duration, febrile seizures, and cerebral glucose metabolism. (15009230)
2004
34
All-trans retinoic acid augments the bystander effect of herpes simplex virus thymidine kinase/ganciclovir system in the treatment of tongue carcinoma cell line]. (12760771)
2003
35
Endometrial stromal sarcoma of the uterus: analysis of 25 patients. (12860344)
2003
36
Current developments and uses of cryosurgery in the treatment of keloids and hypertrophic scars. (12028522)
2002
37
Location, size and morphological characteristics of left atrial thrombi as assessed by echocardiography in patients with rheumatic mitral valve disease. (11888821)
2001
38
Changes in concentrations of type IV collagen and tissue inhibitor of metalloproteinase-1 in patients with paraquat poisoning. (11746190)
2001
39
AML1 haploinsufficiency, gene dosage, and the predisposition to acute leukemia. (10684580)
2000
40
Hypercalcemia in multiple myeloma]. (7699910)
1995
41
Incision and drainage versus aspiration of fluctuant buboes in the emergency department during an epidemic of chancroid. (7482103)
1995
42
Inhibition of rhodopsin kinase by recoverin. Further evidence for a negative feedback system in phototransduction. (7608179)
1995
43
Overrepresentation of the V kappa IV subgroup in light chain deposition disease. (7829131)
1994
44
Inherited complement deficiency states and disease. (1802551)
1991
45
Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. (2669483)
1989
46
The treatment of juvenile nasopharyngeal angiofibroma. The case for radiation therapy. (6319519)
1983
47
Nucleotide sequence of a cDNA clone encoding human preproinsulin. (503234)
1979
48
Taurodontism: familial tendencies demonstrated in eleven of fourteen case reports. (4514516)
1973
49
Lymphaticovenous anastomosis in a case with primary lymphedema tarda. (4764699)
1973
50
AN IN VITRO COMPARISON OF THE EFFECT OF SOME ANTIBACTERIAL, ANTIFUNGAL AND ANTIPROTOZOAL AGENTS ON VARIOUS STRAINS OF MYCOPLASMA (PLEUROPNEUMONIA-LIKE ORGANISMS: P.P.L.O.). (14271924)
1965

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