RD
MCID: RFS001
MIFTS: 63

Refsum Disease (RD) malady

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

Aliases & Classifications for Refsum Disease

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Refsum Disease:

Name: Refsum Disease 52 11 23 48 24 25 49 54 70 12 50 39 13 68
Heredopathia Atactica Polyneuritiformis 11 48 25 49 54 70
Phytanic Acid Storage Disease 24 25 49 27
Adult Refsum Disease 23 24 25 54
Phytanic Acid Oxidase Deficiency 48 24 70
Refsum's Disease 11 25 70
Refsum Syndrome 23 24 25
Hereditary Motor and Sensory Neuropathy Iv 24 70
Classic Refsum Disease 25 54
Hmsn Type Iv 11 25
Hmsn Iv 25 70
Hmsn 4 48 54
Hereditary Motor and Sensory Neuropathy Type Iv 25
 
Hereditary Sensory and Motor Neuropathy Type 4 48
Hereditary Motor and Sensory Neuropathy Type 4 54
Phytanic-Coa Hydroxylase Deficiency 54
Hypertrophic Neuropathy of Refsum 48
Disorder of Cornification 11 48
Refsum Disease, Adult, 1 27
Hsmn Iv 11
Doc 11 48
Hmsn4 70
Ard 25
Crd 25
Rd 70

Characteristics:

Orphanet epidemiological data:

54
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

64
refsum disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266500
Disease Ontology11 DOID:10582
ICD1030 G60.1
ICD9CM32 356.3
MeSH39 D012035
NCIt45 C85043
SNOMED-CT62 25362006
Orphanet54 ORPHA773
MESH via Orphanet40 D012035
UMLS via Orphanet69 C0034960
ICD10 via Orphanet31 G60.1

Summaries for Refsum Disease

About this section
OMIM:52 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 anosmia, anosmia and Array. An important gene associated with Refsum Disease is PHYH (Phytanoyl-CoA 2-Hydroxylase), and among its related pathways are PPAR Alpha Pathway and Valproic acid pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are liver/biliary system and growth/size/body region.

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

NIH Rare Diseases:48 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:49 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).  Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods.  As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues.  The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa).  If the disease progresses, other symptoms may include deafness, loss of the sense of smell (anosmia), problems with balance and coordination (ataxia), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias).  Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe.  Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.

UniProtKB/Swiss-Prot:70 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:71 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

GeneReviews for NBK1353

Related Diseases for Refsum Disease

About this section

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 108)
idRelated DiseaseScoreTop Affiliating Genes
1refsum disease, infantile form12.2
2peroxisome biogenesis disorder 1b12.0
3refsum disease with increased pipecolic acidemia11.8
4pex7-related refsum disease11.8
5phyh-related refsum disease11.8
6acute respiratory distress syndrome11.8
7cone-rod dystrophy11.7
8peroxisome biogenesis disorder 9b11.6
9cortisone reductase deficiency 111.6
10adult respiratory distress syndrome11.3
11zellweger syndrome11.1
12cortisone reductase deficiency 211.0
13peroxisome biogenesis disorder 1a11.0
14leukodystrophy11.0
15hereditary motor and sensory neuropathy v11.0
16peroxisome biogenesis disorders, zellweger syndrome spectrum10.9
17spondylometaphyseal dysplasia with cone-rod dystrophy10.9
18peroxisome biogenesis disorder 6b10.8
19peroxisome biogenesis disorder 11b10.8
20peroxisome biogenesis disorder 4b10.8
21peroxisome biogenesis disorder 5b10.8
22peroxisome biogenesis disorder 2b10.8
23peroxisome biogenesis disorder 3b10.8
24peroxisome biogenesis disorder 7b10.8
25respiratory distress syndrome in premature infants10.8
26adult acute respiratory distress syndrome10.8
27chylomicron retention disease10.8
28daneman davy mancer syndrome10.8
29peroxisome biogenesis disorder 6a10.7
30peroxisome biogenesis disorder 13a10.7
31peroxisome biogenesis disorder 12a10.7
32peroxisome biogenesis disorder 11a10.7
33peroxisome biogenesis disorder 4a10.7
34peroxisome biogenesis disorder 10a10.7
35peroxisome biogenesis disorder 5a10.7
36peroxisome biogenesis disorder 8a,10.7
37peroxisome biogenesis disorder 8b10.7
38peroxisome biogenesis disorder 2a10.7
39peroxisome biogenesis disorder 3a10.7
40polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.7
41peroxisome biogenesis disorder 7a10.7
42polyneuropathy10.3
43neuropathy10.3
44hereditary neuropathies10.3
45deafness progressive cataract autosomal dominant10.2PEX1, PEX6
46langer mesomelic dwarfism10.1PEX2, PEX6
47growth hormone deficiency, isolated, type ii10.1PEX1, PEX5, PEX7
48bardet-biedl syndrome 510.1GNPAT, PEX5, PEX7
49holoprosencephaly 610.1GNPAT, PEX5, PEX7
50peroxisome disorders10.0

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



Diseases related to refsum disease

Symptoms & Phenotypes for Refsum Disease

About this section

Symptoms by clinical synopsis from OMIM:

266500

Clinical features from OMIM:

266500

Human phenotypes related to Refsum Disease:

 54 64 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Occasional (29-5%) HP:0000083
2 anosmia64 54 Very frequent (99-80%) HP:0000458
3 abnormality of the eye54 Very frequent (99-80%)
4 retinopathy64 54 Very frequent (99-80%) HP:0000488
5 abnormality of eye movement54 Frequent (79-30%)
6 abnormality of vision54 Very frequent (99-80%)
7 visual impairment64 54 Frequent (79-30%) HP:0000505
8 ptosis64 54 Frequent (79-30%) HP:0000508
9 cataract64 54 Very frequent (99-80%) HP:0000518
10 progressive visual loss64 54 Occasional (29-5%) HP:0000529
11 microphthalmia64 54 Occasional (29-5%) HP:0000568
12 nystagmus64 54 Occasional (29-5%) HP:0000639
13 night blindness54 Frequent (79-30%)
14 dry skin64 54 Very frequent (99-80%) HP:0000958
15 ataxia64 54 Very frequent (99-80%) HP:0001251
16 cardiomyopathy64 54 Very frequent (99-80%) HP:0001638
17 splenomegaly64 54 Frequent (79-30%) HP:0001744
18 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
19 miosis64 54 Frequent (79-30%) HP:0000616
20 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
21 abnormality of the foot54 Very frequent (99-80%)
22 pes cavus64 54 Occasional (29-5%) HP:0001761
23 hammertoe64 54 Frequent (79-30%) HP:0001765
24 abnormality of metabolism/homeostasis64 54 Very frequent (99-80%) HP:0001939
25 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
26 nail dysplasia64 54 Very frequent (99-80%) HP:0002164
27 developmental regression64 54 Frequent (79-30%) HP:0002376
28 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
29 skeletal muscle atrophy64 54 Frequent (79-30%) HP:0003202
30 hemiplegia/hemiparesis64 54 Very frequent (99-80%) HP:0004374
31 abnormality of epiphysis morphology64 54 Frequent (79-30%) HP:0005930
32 abnormal pyramidal signs64 54 Very frequent (99-80%) HP:0007256
33 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
34 ichthyosis64 54 Very frequent (99-80%) HP:0008064
35 peripheral neuropathy64 54 Very frequent (99-80%) HP:0009830
36 short metacarpal64 54 Frequent (79-30%) HP:0010049
37 intellectual disability, severe64 54 Frequent (79-30%) HP:0010864
38 heart block64 54 Occasional (29-5%) HP:0012722
39 rod-cone dystrophy64 HP:0000510
40 retinal degeneration64 HP:0000546
41 nyctalopia64 HP:0000662
42 hyporeflexia64 HP:0001265
43 congestive heart failure64 HP:0001635
44 cardiomegaly64 HP:0001640
45 multiple epiphyseal dysplasia64 HP:0002654
46 increased csf protein64 HP:0002922
47 sensory impairment64 HP:0003474
48 limb muscle weakness64 HP:0003690
49 short fourth metatarsal64 HP:0004689
50 sensorimotor neuropathy64 HP:0007141
51 elevated levels of phytanic acid64 HP:0010571
52 arrhythmia64 HP:0011675
53 abnormal renal physiology64 HP:0012211

UMLS symptoms related to Refsum Disease:


anosmia

MGI Mouse Phenotypes related to Refsum Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.9AMACR, EHHADH, FFAR1, HADHB, PEX1, PEX2
2MP:00053787.7AMACR, EHHADH, GLMN, GNPAT, HADHB, PEX1
3MP:00036317.4EHHADH, FFAR1, GLMN, GNPAT, PEX1, PEX2
4MP:00107687.3AMACR, CAT, EHHADH, GLMN, GNPAT, HADHB
5MP:00053766.3AMACR, CAT, EHHADH, FFAR1, GLMN, GNPAT

Drugs & Therapeutics for Refsum Disease

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

(show all 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Betaineapproved, nutraceuticalPhase 334107-43-7247
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
2Lipid Regulating AgentsPhase 32766
3Bile Acids and SaltsPhase 3106
4Cholic AcidsPhase 311
5Hypolipidemic AgentsPhase 32785
6Liver ExtractsPhase 34067
7AntimetabolitesPhase 3, Phase 212054
8Gastrointestinal AgentsPhase 38402
9
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
10
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
11
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
12
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
13
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
14
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
15
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
16
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
17Thioctic AcidPhase 2118
18TocopherolsPhase 2414
19Antimetabolites, AntineoplasticPhase 27361
20N-monoacetylcystinePhase 2330
21Antilymphocyte SerumPhase 2408
22Antineoplastic Agents, AlkylatingPhase 24603
23VitaminsPhase 25282
24Alkylating AgentsPhase 24827
25Immunosuppressive AgentsPhase 213086
26TocotrienolsPhase 2410
27TocopherolNutraceuticalPhase 2414
28TocotrienolNutraceuticalPhase 2410
29Alpha-lipoic AcidNutraceuticalPhase 2118
30
chenodeoxycholic acidapproved34474-25-910133
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
31
Ursodeoxycholic acidapproved, investigational97128-13-231401
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
32Insulin, Globin Zinc4645
33insulin4646
34Laxatives537
35Cathartics537

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
3MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
4Guidance in Diet and Physical Activity for Prevention of Weight Gain After Gastric Bypass SurgeryCompletedNCT01270451
5Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
6Study 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, 127
2 Phytanic Acid Storage Disease27
3 Refsum Disease24

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

36
Skin, Bone, Eye, Heart, Liver, Brain, Retina

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 76)
idTitleAuthorsYear
1
Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated I^-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. (27886192)
2017
2
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. (26799636)
2016
3
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. (27221287)
2016
4
Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. (27114847)
2016
5
Audiological findings in Infantile Refsum disease. (26055198)
2015
6
Conventional and advanced MR imaging in infantile Refsum disease. (26701952)
2015
7
Refsum Disease Presenting with a Late-Onset Leukodystrophy. (25604618)
2015
8
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. (26303611)
2015
9
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. (24920240)
2014
10
Infantile refsum disease in a young adult: case presentation and brief review. (25372210)
2014
11
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
12
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
13
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
14
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
15
Infantile refsum disease with enamel defects: a case report. (21703082)
2011
16
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
17
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
18
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
19
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
20
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
21
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
22
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
23
Phenotype of adult Refsum disease due to a defect in peroxin 7. (17325280)
2007
24
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
25
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
26
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
27
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
28
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
29
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
30
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
31
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
32
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (14672712)
2004
33
Infantile refsum disease: case report. (14625237)
2003
34
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
35
Identification of PEX7 as the second gene involved in Refsum disease. (12522768)
2003
36
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. (12700346)
2003
37
Identification of PEX7 as the second gene involved in Refsum disease. (14713215)
2003
38
Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation. (12034140)
2002
39
Refsum disease, peroxisomes and phytanic acid oxidation: a review. (11706932)
2001
40
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
41
Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. (11527414)
2001
42
Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (10686344)
2000
43
Infantile refsum disease in four Amish sibs. (10607947)
2000
44
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
45
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
46
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
47
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
48
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)
1999
49
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
50
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA. (9686377)
1998

Variations for Refsum Disease

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

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

Clinvar genetic disease variations for Refsum Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PHYHNM_ 006214.3(PHYH): c.766_ 767delGT (p.Val256Phefs)deletionLikely pathogenicrs797045100GRCh37Chr 10, 13325751: 13325752
2PEX7NM_ 000288.3(PEX7): c.-45C> TSNVPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759

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
1integral component of peroxisomal membraneGO:000577910.3PEX2, PEX26
2peroxisomal matrixGO:00057828.5AMACR, CAT, EHHADH, GNPAT, HACL1, PEX7
3mitochondrionGO:00057398.4AMACR, CAT, EHHADH, GNPAT, HADHB, PEX5
4peroxisomal membraneGO:00057788.1CAT, GNPAT, PEX1, PEX2, PEX26, PEX5
5peroxisomeGO:00057775.7AMACR, CAT, EHHADH, GNPAT, HACL1, PEX1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bile acid biosynthetic processGO:000669910.6AMACR, SCP2
2ether lipid biosynthetic processGO:000861110.6GNPAT, PEX7
3fatty acid alpha-oxidationGO:000156110.6HACL1, PHYH
4fatty acid beta-oxidation using acyl-CoA oxidaseGO:003354010.1AMACR, EHHADH, SCP2
5cellular lipid metabolic processGO:004425510.0EHHADH, GNPAT, PEX5
6protein import into peroxisome membraneGO:00450469.9PEX26, PEX5
7protein targeting to peroxisomeGO:00066259.5PEX1, PEX6, PEX7
8fatty acid beta-oxidationGO:00066359.4EHHADH, HADHB, PEX2, PEX5, PEX7
9response to fatty acidGO:00705429.4CAT, FFAR1, GNPAT
10fatty acid metabolic processGO:00066319.3AMACR, EHHADH, HACL1, HADHB, PHYH
11metabolic processGO:00081529.3EHHADH, GNPAT, HADHB, SCP2
12protein import into peroxisome matrixGO:00165589.2PEX1, PEX2, PEX26, PEX5, PEX7
13peroxisome organizationGO:00070318.7PEX1, PEX2, PEX5, PEX6, PEX7, SCP2

Molecular functions related to Refsum Disease according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cofactor bindingGO:004803710.6HACL1, PHYH
23-hydroxyacyl-CoA dehydrogenase activityGO:000385710.2EHHADH, HADHB
3enoyl-CoA hydratase activityGO:000430010.2EHHADH, HADHB
4ATPase activity, coupledGO:004262310.1PEX1, PEX6
5enzyme bindingGO:00198999.9CAT, EHHADH, PEX5, PEX7
6catalytic activityGO:00038249.8HACL1, HADHB, PHYH, SCP2
7transferase activity, transferring acyl groupsGO:00167469.7GNPAT, HADHB, SCP2
8transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167479.7HADHB, SCP2
9protein C-terminus bindingGO:00080229.4PEX1, PEX26, PEX6
10receptor bindingGO:00051029.0AMACR, CAT, EHHADH, GNPAT, HACL1, SCP2

Sources for Refsum Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet