ARD
MCID: RFS001
MIFTS: 77

Refsum Disease (ARD) malady

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

Summaries for Refsum Disease

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OMIM:46 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 retinitis and refsum disease, infantile form, 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 Vitamin A and carotenoid metabolism and the visual cycle I (vertebrates). The drugs acetylcysteine and epoprostenol and the compounds 11-cis-retinol and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are cardiovascular system and pigmentation.

Genetics Home Reference:22 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:42 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:43 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Wikipedia:64 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

Descriptions from OMIM:46 266510,614879

GeneReviews summary for refsum

Aliases & Classifications for Refsum Disease

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Sources:
61UMLS, 9Disease Ontology, 10diseasecard, 20GeneReviews, 42NIH Rare Diseases, 22Genetics Home Reference, 43NINDS, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 23GTR, 21GeneTests, 39NCIt, 28ICD9CM, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Refsum Disease, Aliases & Descriptions:

Name: Refsum Disease 9 10 20 42 22 43 46 11 44 48 61
Heredopathia Atactica Polyneuritiformis 9 42 22 43 48 61
Phytanic Acid Storage Disease 20 23 22 43 61
Phytanic Acid Oxidase Deficiency 20 42 48 61
Refsum Syndrome 20 21 22
Hereditary Motor and Sensory Neuropathy Type Iv 22 61
Adult Refsum Disease 20 22
Refsum's Disease 9 22
Hmsn Type Iv 9 22
Hmsn 4 42 48
Hereditary Motor and Sensory Neuropathy Type 4 48
Herditary Sensory and Motor Neuropathy Type 4 42
Hereditary Motorsensory Neuropathy Iv 20
 
Respiratory Distress Syndrome, Adult 61
Hypertrophic Neuropathy of Refsum 42
Disorder of Cornification 11 42
Refsum Disease, Classic 61
Classic Refsum Disease 22
Refsum Disease, Adult 61
Retinitis Pigmentosa 61
Refsum's Syndrome 61
Hsmn Iv 9
Hmsn Iv 22
Doc 11 42
Ard 22
Crd 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:10582
NCIt39 C85043
ICD9CM28 356.3
MeSH34 D012035
SNOMED-CT56 25362006
MESH via Orphanet35 D012035
ICD10 via Orphanet27 G60.1
UMLS via Orphanet62 C0034960
ICD1026 G60.1

Related Diseases for Refsum Disease

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Diseases in the Refsum Disease family:

Pex7-Related Refsum Disease Phyh-Related Refsum Disease

Diseases related to Refsum Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.1RHO
2refsum disease, infantile form31.0PHYH, PEX1, PEX2, PEX26
3peroxisome disorders31.0PEX2, PEX1, PEX7, PHYH
4zellweger syndrome30.9PEX7, PEX1, PEX2
5rhizomelic chondrodysplasia punctata30.7PHYH, PEX7
6adrenoleukodystrophy30.7PEX1, PEX2, PEX26
7zellweger spectrum30.7PEX1, PEX26
8night blindness30.3RHO, PDE6B, RPE65
9blindness30.2RPE65, PDE6B, CRX, RHO
10infantile refsum disease10.7
11adult respiratory distress syndrome10.6
12neuropathy10.5
13polyneuropathy10.5
14hereditary neuropathies10.5
15mulibrey nanism10.4PEX7
16fundus flavimaculatus10.4ROM1
17best vitelliform macular dystrophy10.4BEST1
18cone-rod dystrophy10.4
19peroxisome biogenesis disorder 1a10.3
20peroxisome biogenesis disorder 2b10.3
21pneumonia10.3
22peripheral retinal degeneration10.3ROM1
23stargardt disease10.3CRX, RHO
24refsum disease with increased pipecolic acidemia10.2
25cortisone reductase deficiency 110.2
26cortisone reductase deficiency 210.2
27fundus albipunctatus10.2RHO, PRPH2
28congenital stationary night blindness10.2RHO, PDE6B, RPE65
29malaria10.2
30influenza10.2
31septic shock10.2
32sepsis10.2
33endotheliitis10.2
34adult-onset vitelliform macular dystrophy10.2PRPH2, BEST1
35retinitis pigmentosa10.2
36chondrodysplasia10.2
37neonatal adrenoleukodystrophy10.2
38pex7-related refsum disease10.2
39phyh-related refsum disease10.2
40ataxia10.2
41charcot-marie-tooth disease with pyramidal features, autosomal dominant10.2
42respiratory failure10.2
43melanoma10.2
44chylomicron retention disease10.2
45spondylometaphyseal dysplasia with cone-rod dystrophy10.2
46vitelliform macular dystrophy10.1PRPH2, BEST1, ROM1
47alcohol abuse10.1
48acute chest syndrome10.1
49plasmodium vivax malaria10.1
50miliary tuberculosis10.1

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:

266500,266510,614879

Symptoms:

 48 (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 retinal pigmentation hallmark (90%) HP:0007703
13 ichthyosis hallmark (90%) HP:0008064
14 peripheral neuropathy hallmark (90%) HP:0009830
15 ptosis typical (50%) HP:0000508
16 abnormality of the pupil typical (50%) HP:0000615
17 abnormality of the metacarpal bones typical (50%) HP:0001163
18 muscular hypotonia typical (50%) HP:0001252
19 splenomegaly typical (50%) HP:0001744
20 camptodactyly of toe typical (50%) HP:0001836
21 developmental regression typical (50%) HP:0002376
22 amyotrophy typical (50%) HP:0003202
23 abnormality of the epiphyses typical (50%) HP:0005930
24 cognitive impairment typical (50%) HP:0100543
25 renal insufficiency occasional (7.5%) HP:0000083
26 visual impairment occasional (7.5%) HP:0000505
27 nystagmus occasional (7.5%) HP:0000639
28 pes cavus occasional (7.5%) HP:0001761
29 respiratory insufficiency occasional (7.5%) HP:0002093
30 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
31 arrhythmia occasional (7.5%) HP:0011675
32 abnormal renal physiology rare (5%) HP:0012211
33 autosomal recessive inheritance HP:0000007
34 sensorineural hearing impairment HP:0000407
35 anosmia HP:0000458
36 ptosis HP:0000508
37 retinitis pigmentosa HP:0000510
38 cataract HP:0000518
39 retinal degeneration HP:0000546
40 miosis HP:0000616
41 nystagmus HP:0000639
42 night blindness HP:0000662
43 ataxia HP:0001251
44 hyporeflexia HP:0001265
45 congestive heart failure HP:0001635
46 cardiomyopathy HP:0001638
47 cardiomegaly HP:0001640
48 pes cavus HP:0001761
49 multiple epiphyseal dysplasia HP:0002654
50 increased csf protein HP:0002922
51 sensory impairment HP:0003474
52 limb muscle weakness HP:0003690
53 short fourth metatarsal HP:0004689
54 sensorimotor neuropathy HP:0007141
55 ichthyosis HP:0008064
56 elevated levels of phytanic acid HP:0010571
57 arrhythmia HP:0011675

Drugs & Therapeutics for Refsum Disease

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Genetic Tests for Refsum Disease

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Genetic tests related to Refsum Disease:

id Genetic test Affiliating Genes
1 Refsum Disease21
2 Phytanic Acid Storage Disease23

Anatomical Context for Refsum Disease

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MalaCards organs/tissues related to Refsum Disease:

32
Eye, Skin, Heart, Bone, Liver, Lung, Olfactory bulb, Brain, Cortex, Cerebellum, Retina, Testes, Monocytes

Animal Models for Refsum Disease or affiliated genes

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MGI Mouse Phenotypes related to Refsum Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1RHO, CRX, PDE6B, ROM1, PRPH2, TULP1
2MP:00011868.9RHO, CRX, PDE6B, RPE65, BEST1, PRPH2
3MP:00053918.3RDH12, PEX7, TULP1, USH2A, PRPH2, BEST1
4MP:00036317.7RDH12, PEX2, PEX7, TULP1, USH2A, PRPH2

Publications for Refsum Disease

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Articles related to Refsum Disease:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. (24920240)
2014
2
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
3
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
4
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
5
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
6
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
7
Infantile refsum disease with enamel defects: a case report. (21703082)
2011
8
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
9
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
10
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
11
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (19004801)
2008
12
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
13
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
14
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
15
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
16
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
17
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
18
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
19
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
20
Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)
2004
21
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (14672712)
2004
22
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. (12700346)
2003
23
Identification of PEX7 as the second gene involved in Refsum disease. (14713215)
2003
24
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
25
Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation. (12034140)
2002
26
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
27
Refsum disease, peroxisomes and phytanic acid oxidation: a review. (11706932)
2001
28
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
29
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
30
Transport of phytanic acid on lipoproteins in Refsum disease. (10070615)
1999
31
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)
1999
32
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
33
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. (9671729)
1998
34
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
35
Identification of PAHX, a Refsum disease gene. (9326939)
1997
36
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
37
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. (7526031)
1994
38
Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. (7519689)
1994
39
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
40
Refsum Disease (20301527)
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:

63 (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:

7 (show all 44)
id Gene Name 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.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicGRCh37Chr 4, 654392: 654392
6PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicGRCh37Chr 6, 42689663: 42689663
7PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicGRCh37Chr 6, 42689574: 42689574
8ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicGRCh38Chr 11, 62613612: 62613612
9RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicGRCh37Chr 3, 129249877: 129249877
10RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicGRCh37Chr 3, 129251125: 129251125
11CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicGRCh38Chr 19, 47836335: 47836335
12PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicGRCh37Chr 17, 74536225: 74536225
13EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicGRCh38Chr 6, 64590910: 64590910
14EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicGRCh37Chr 6, 64791763: 64791763
15EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicGRCh37Chr 6, 64488004: 64488004
16EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64472506: 64472506
17EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64431122: 64431122
18EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicGRCh37Chr 6, 64430718: 64430718
19BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicGRCh38Chr 11, 61958194: 61958194
20TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicGRCh37Chr 9, 32541966: 32541969
21SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicGRCh37Chr 2, 96958828: 96958828
22SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicGRCh37Chr 2, 96958823: 96958823
23IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicGRCh37Chr 3, 100949961: 100949961
24NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicGRCh37Chr 14, 68196025: 68196025
25USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicGRCh37Chr 1, 215956121: 215956121
26USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215807865: 215807865
27USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicGRCh37Chr 1, 216419934: 216419934
28USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215972456: 215972456
29RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
30USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
31USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
32PEX7NM_000288.3(PEX7): c.-45C> Tsingle nucleotide variantPathogenicrs267608252GRCh37Chr 6, 137143759: 137143759
33USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
34USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
35TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
36PEX7NM_000288.3(PEX7): c.653C> T (p.Ala218Val)single nucleotide variantPathogenicrs121909151GRCh37Chr 6, 137191047: 137191047
37PEX7NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs)duplicationPathogenicrs199470486GRCh37Chr 6, 137143848: 137143855
38PEX7NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter)single nucleotide variantPathogenicrs121909154GRCh37Chr 6, 137166758: 137166758
39PEX7NM_000288.3(PEX7): c.340-10A> Gsingle nucleotide variantPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743
40PEX7NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter)single nucleotide variantPathogenicrs61753238GRCh37Chr 6, 137143923: 137143923
41PEX7NM_000288.3(PEX7): c.12_18dupGTGCGGT (p.Gly7Valfs)duplicationPathogenicrs62636519GRCh37Chr 6, 137143815: 137143821
42PEX7NM_000288.3(PEX7): c.40A> C (p.Thr14Pro)single nucleotide variantPathogenicrs61753233GRCh37Chr 6, 137143843: 137143843
43PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
44RPE65NM_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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Expression patterns in normal tissues for genes affiliated with Refsum Disease

Search GEO for disease gene expression data for Refsum Disease.

Pathways for genes affiliated with Refsum Disease

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Compounds for genes affiliated with Refsum Disease

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Sources:
44Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Refsum Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2511.1RPE65, RHO
2vitamin a44 25 1211.9RPE65, RHO, RDH12
3retinoid449.6RPE65, CRX, RHO
4lipid449.3PEX2, PEX1, RPE65, RHO, PHYH

GO Terms for genes affiliated with Refsum Disease

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Cellular components related to Refsum Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:06034210.3RHO, RDH12
2photoreceptor disc membraneGO:09738110.2RHO, PDE6B
3photoreceptor outer segment membraneGO:04262210.2ROM1, RHO
4photoreceptor inner segmentGO:00191710.0RHO, TULP1
5integral component of peroxisomal membraneGO:00577910.0PEX2, PEX26
6photoreceptor outer segmentGO:0017509.9RHO, TULP1
7peroxisomal matrixGO:0057829.9PHYH, PEX7
8peroxisomal membraneGO:0057789.8PEX1, PEX2
9peroxisomeGO:0057779.8PHYH, PEX7, PEX1, PEX26

Biological processes related to Refsum Disease according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of rhodopsin mediated signaling pathwayGO:02240010.0RHO, PDE6B
2retinoid metabolic processGO:00152310.0RPE65, RHO, RDH12
3detection of light stimulus involved in visual perceptionGO:05090810.0BEST1, EYS
4fatty acid beta-oxidationGO:00663510.0PEX7, PEX2
5phototransduction, visible lightGO:00760310.0RDH12, RHO, PDE6B, RPE65
6response to stimulusGO:0508969.9CRX, PRCD, USH2A
7photoreceptor cell maintenanceGO:0454949.9TULP1, USH2A, RDH12
8peroxisome organizationGO:0070319.9PEX2, PEX1, PEX7
9rhodopsin mediated signaling pathwayGO:0160569.8RHO, PDE6B
10retina development in camera-type eyeGO:0600419.7RHO, CRX, PDE6B, PRPH2, TULP1
11protein import into peroxisome matrixGO:0165589.6PEX26, PEX2, PEX1, PEX7
12visual perceptionGO:0076018.3IMPG2, TULP1, USH2A, PRPH2, PRCD, BEST1

Molecular functions related to Refsum Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.0RDH12, PEX2, PEX1, TULP1, USH2A, TOPORS

Products for genes affiliated with Refsum Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Refsum Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet