MCID: RFS001
MIFTS: 61

Refsum Disease

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

Aliases & Classifications for Refsum Disease

MalaCards integrated aliases for Refsum Disease:

Name: Refsum Disease 54 12 23 50 24 25 51 56 71 13 52 42 14 69
Heredopathia Atactica Polyneuritiformis 12 50 25 51 56 71
Phytanic Acid Storage Disease 24 25 51 29
Adult Refsum Disease 23 24 25 56
Phytanic Acid Oxidase Deficiency 50 24 71
Refsum's Disease 12 25 71
Refsum Syndrome 23 24 25
Hereditary Motor and Sensory Neuropathy Iv 24 71
Classic Refsum Disease 25 56
Hmsn Type Iv 12 25
Hmsn Iv 25 71
Hmsn 4 50 56
Hereditary Motor and Sensory Neuropathy Type Iv 25
Hereditary Sensory and Motor Neuropathy Type 4 50
Hereditary Motor and Sensory Neuropathy Type 4 56
Phytanic-Coa Hydroxylase Deficiency 56
Hypertrophic Neuropathy of Refsum 50
Disorder of Cornification 11 50
Refsum Disease, Adult, 1 29
Hsmn Iv 12
Doc 11 50
Hmsn4 71
Ard 25
Crd 25
Rd 71

Characteristics:

Orphanet epidemiological data:

56
refsum disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
affected infants appear normal
symptoms show insidious onset in the late first through third decades


HPO:

32
refsum disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Refsum Disease

OMIM : 54
Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987). Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see 214100) (Skjeldal et al., 1987). Infantile Refsum disease (see PBD1B, 601539) is a distinct disorder with a different phenotype and genetic basis. A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B; 614879), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7; 601757) on chromosome 6q. (266500)

MalaCards based summary : Refsum Disease, also known as heredopathia atactica polyneuritiformis, is related to peroxisome biogenesis disorder 9b and refsum disease, infantile form, and has symptoms including progressive visual loss, visual impairment and nystagmus. An important gene associated with Refsum Disease is PHYH (Phytanoyl-CoA 2-Hydroxylase), and among its related pathways/superpathways are Peroxisome and Peroxisomal lipid metabolism. The drugs Betaine and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are homeostasis/metabolism and liver/biliary system

NIH Rare Diseases : 50 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 : 71 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 : 51 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.

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.

Wikipedia : 72 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

GeneReviews: NBK1353

Related Diseases for Refsum Disease

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 115)
id Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 9b 30.4 GNPAT PEX2 PEX5 PEX7 PHYH SCP2
2 refsum disease, infantile form 12.1
3 peroxisome biogenesis disorder 1b 12.0
4 phyh-related refsum disease 11.8
5 refsum disease with increased pipecolic acidemia 11.8
6 pex7-related refsum disease 11.8
7 cone-rod dystrophy 11.8
8 acute respiratory distress syndrome 11.8
9 chylomicron retention disease 11.6
10 cortisone reductase deficiency 1 11.6
11 adult respiratory distress syndrome 11.2
12 zellweger syndrome 11.0
13 cortisone reductase deficiency 2 11.0
14 leukodystrophy 11.0
15 hereditary motor and sensory neuropathy v 11.0
16 spondylometaphyseal dysplasia with cone-rod dystrophy 10.9
17 peroxisome biogenesis disorders, zellweger syndrome spectrum 10.9
18 peroxisome biogenesis disorder 1a 10.9
19 peroxisome biogenesis disorder 11b 10.8
20 peroxisome biogenesis disorder 5b 10.8
21 peroxisome biogenesis disorder 2b 10.8
22 peroxisome biogenesis disorder 6b 10.8
23 peroxisome biogenesis disorder 3b 10.8
24 peroxisome biogenesis disorder 4b 10.8
25 peroxisome biogenesis disorder 7b 10.8
26 staphylococcal toxic shock syndrome 10.8
27 respiratory distress syndrome in premature infants 10.8
28 adult acute respiratory distress syndrome 10.8
29 daneman davy mancer syndrome 10.8
30 peroxisome biogenesis disorder 11a 10.7
31 peroxisome biogenesis disorder 5a 10.7
32 peroxisome biogenesis disorder 8a 10.7
33 peroxisome biogenesis disorder 8b 10.7
34 peroxisome biogenesis disorder 2a 10.7
35 peroxisome biogenesis disorder 6a 10.7
36 peroxisome biogenesis disorder 3a 10.7
37 peroxisome biogenesis disorder 13a 10.7
38 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.7
39 peroxisome biogenesis disorder 4a 10.7
40 peroxisome biogenesis disorder 7a 10.7
41 peroxisome biogenesis disorder 12a 10.7
42 peroxisome biogenesis disorder 10a 10.7
43 hereditary neuropathies 10.3
44 polyneuropathy 10.3
45 neuropathy 10.3
46 deafness hypospadias metacarpal and metatarsal syndrome 10.1 PEX1 PEX6
47 growth hormone deficiency, isolated, type ia 10.1 PEX1 PEX5 PEX7
48 peroxisome disorders 10.0
49 bardet-biedl syndrome 5 10.0 GNPAT PEX5 PEX7
50 pneumonia 9.9

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



Diseases related to Refsum Disease

Symptoms & Phenotypes for Refsum Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
hyporeflexia
limb weakness
sensory impairment
peripheral sensorimotor neuropathy
limb atrophy
more
Skeletal- Feet:
pes cavus
shortening of the metatarsals

Skeletal:
multiple epiphyseal dysplasia

Head And Neck- Eyes:
sensorineural deafness, progressive

Neurologic- Central Nervous System:
increased csf protein with normal cell count

Cardiovascular- Heart:
cardiomegaly
cardiomyopathy
cardiac failure (sudden death has been reported)
electrocardiographic abnormalities

Skin Nails & Hair- Skin:
ichthyosis

Head And Neck- Nose:
anosmia

Skeletal- Hands:
shortening of the metacarpals

Laboratory- Abnormalities:
increased phytanic acid in body tissues and fluids
decreased phytanic acid oxidase activity


Clinical features from OMIM:

266500

Human phenotypes related to Refsum Disease:

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000529
2 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
3 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 intellectual disability, severe 56 32 frequent (33%) Frequent (79-30%) HP:0010864
6 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
7 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
8 peripheral neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0009830
9 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
10 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
11 pes cavus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001761
12 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
13 cardiomyopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001638
14 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
15 dry skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000958
16 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
17 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
18 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
19 anosmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000458
20 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
21 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
22 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
23 heart block 56 32 occasional (7.5%) Occasional (29-5%) HP:0012722
24 nail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002164
25 miosis 56 32 frequent (33%) Frequent (79-30%) HP:0000616
26 short metacarpal 56 32 frequent (33%) Frequent (79-30%) HP:0010049
27 abnormality of epiphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0005930
28 abnormal pyramidal signs 56 32 hallmark (90%) Very frequent (99-80%) HP:0007256
29 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
30 abnormality of metabolism/homeostasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001939
31 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
32 hemiplegia/hemiparesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004374
33 hammertoe 56 32 frequent (33%) Frequent (79-30%) HP:0001765
34 hyporeflexia 32 HP:0001265
35 cardiomegaly 32 HP:0001640
36 retinal degeneration 32 HP:0000546
37 nyctalopia 32 frequent (33%) HP:0000662
38 night blindness 56 Frequent (79-30%)
39 arrhythmia 32 HP:0011675
40 congestive heart failure 32 HP:0001635
41 rod-cone dystrophy 32 HP:0000510
42 increased csf protein 32 HP:0002922
43 sensorimotor neuropathy 32 HP:0007141
44 multiple epiphyseal dysplasia 32 HP:0002654
45 sensory impairment 32 HP:0003474
46 limb muscle weakness 32 HP:0003690
47 abnormality of eye movement 56 Frequent (79-30%)
48 abnormality of the eye 56 Very frequent (99-80%)
49 abnormality of vision 56 Very frequent (99-80%)
50 abnormal renal physiology 32 occasional (7.5%) HP:0012211

UMLS symptoms related to Refsum Disease:


anosmia

MGI Mouse Phenotypes related to Refsum Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 AMACR CAT GNPAT PEX1 PEX2 PEX26
2 liver/biliary system MP:0005370 9.17 AMACR PEX1 PEX2 PEX5 PEX7 PHYH

Drugs & Therapeutics for Refsum Disease

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Bile Acids and Salts Phase 3
3 Cholic Acids Phase 3
4 Gastrointestinal Agents Phase 3
5 Liver Extracts Phase 3
6 Antimetabolites Phase 3,Phase 2
7 Hypolipidemic Agents Phase 3
8 Lipid Regulating Agents Phase 3
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
rituximab Approved Phase 2 174722-31-7 10201696
15 Thiotepa Approved Phase 2 52-24-4 5453
16 Tocopherol Approved, Nutraceutical Phase 2
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Alkylating Agents Phase 2
19 Antilymphocyte Serum Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Immunosuppressive Agents Phase 2
22 N-monoacetylcystine Phase 2
23 Thioctic Acid Phase 2
24 Tocopherols Phase 2
25 Tocotrienols Phase 2
26 Vitamins Phase 2
27 Alpha-lipoic Acid Nutraceutical Phase 2
28 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
29
chenodeoxycholic acid Approved 474-25-9 10133
30
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
31 Cathartics
32 Laxatives

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
4 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
5 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Refsum Disease

Cochrane evidence based reviews: refsum disease

Genetic Tests for Refsum Disease

Genetic tests related to Refsum Disease:

id Genetic test Affiliating Genes
1 Refsum Disease, Adult, 1 29
2 Phytanic Acid Storage Disease 29
3 Refsum Disease 24

Anatomical Context for Refsum Disease

MalaCards organs/tissues related to Refsum Disease:

39
Skin, Bone, Eye, Heart, Liver, Brain, Retina

Publications for Refsum Disease

Articles related to Refsum Disease:

(show top 50) (show all 76)
id Title Authors Year
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
Conventional and advanced MR imaging in infantile Refsum disease. ( 26701952 )
2015
6
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. ( 26303611 )
2015
7
Audiological findings in Infantile Refsum disease. ( 26055198 )
2015
8
Refsum Disease Presenting with a Late-Onset Leukodystrophy. ( 25604618 )
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
A child with night blindness: preventing serious symptoms of Refsum disease. ( 22156782 )
2012
14
Medical-dental findings and management of a child with infantile Refsum disease: a case report. ( 22591434 )
2012
15
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
16
Infantile refsum disease with enamel defects: a case report. ( 21703082 )
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
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. ( 18336720 )
2008
21
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. ( 19004801 )
2008
22
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
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
Infantile Refsum disease: serial evaluation with MRI. ( 15480616 )
2005
28
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. ( 16186124 )
2005
29
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. ( 15902563 )
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
Identification of PEX7 as the second gene involved in Refsum disease. ( 12522768 )
2003
34
Infantile refsum disease: case report. ( 14625237 )
2003
35
Identification of PEX7 as the second gene involved in Refsum disease. ( 14713215 )
2003
36
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? ( 12923223 )
2003
37
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. ( 12700346 )
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
Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. ( 11527414 )
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
Refsum disease, peroxisomes and phytanic acid oxidation: a review. ( 11706932 )
2001
42
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. ( 10632109 )
2000
43
Infantile refsum disease in four Amish sibs. ( 10607947 )
2000
44
Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. ( 10686344 )
2000
45
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. ( 10471774 )
1999
46
Transport of phytanic acid on lipoproteins in Refsum disease. ( 10070615 )
1999
47
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. ( 10709665 )
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

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

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 PHYH p.Asn269His VAR_005525 rs104894179
2 PHYH p.Arg275Trp VAR_005526 rs28939671
3 PHYH p.Pro173Ser VAR_017483
4 PHYH p.Gln176Lys VAR_017484 rs28939672
5 PHYH p.Asp177Gly VAR_017485 rs770262329
6 PHYH p.Trp193Arg VAR_017486
7 PHYH p.Glu197Gln VAR_017487
8 PHYH p.Ile199Phe VAR_017488
9 PHYH p.Gly204Ser VAR_017489 rs28939673
10 PHYH p.His220Tyr VAR_017490 rs767216891
11 PHYH p.Phe257Ser VAR_017492
12 PHYH p.Arg275Gln VAR_017493 rs28939674
13 PHYH p.Asn83Tyr VAR_018619
14 PHYH p.His175Arg VAR_018631

ClinVar genetic disease variations for Refsum Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHYH NM_006214.3(PHYH): c.823C> T (p.Arg275Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894178 GRCh37 Chromosome 10, 13325695: 13325695
2 PHYH NM_006214.3(PHYH): c.135-2A> G single nucleotide variant Pathogenic rs201578674 GRCh37 Chromosome 10, 13337608: 13337608
3 PHYH NM_006214.3(PHYH): c.164delT (p.Leu55Argfs) deletion Pathogenic rs730882058 GRCh37 Chromosome 10, 13337577: 13337577
4 PHYH NM_006214.3(PHYH): c.805A> C (p.Asn269His) single nucleotide variant Pathogenic rs104894179 GRCh37 Chromosome 10, 13325713: 13325713
5 PHYH PHYH, 3-BP INS, 576GCC insertion Pathogenic
6 PHYH NM_006214.3(PHYH): c.526C> A (p.Gln176Lys) single nucleotide variant Pathogenic rs28939672 GRCh37 Chromosome 10, 13330512: 13330512
7 PHYH NM_006214.3(PHYH): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs104894173 GRCh37 Chromosome 10, 13330428: 13330428
8 PHYH NM_006214.3(PHYH): c.824G> A (p.Arg275Gln) single nucleotide variant Pathogenic rs104894174 GRCh37 Chromosome 10, 13325694: 13325694
9 PEX7 NM_000288.3(PEX7): c.-45C> T single nucleotide variant Pathogenic rs267608252 GRCh37 Chromosome 6, 137143759: 137143759
10 PHYH NM_006214.3(PHYH): c.766_767delGT (p.Val256Phefs) deletion Likely pathogenic rs797045100 GRCh37 Chromosome 10, 13325751: 13325752

Expression for Refsum Disease

Search GEO for disease gene expression data for Refsum Disease.

Pathways for Refsum Disease

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

id Super pathways Score Top Affiliating Genes
1 11.39 AMACR CAT GNPAT HACL1 PEX1 PEX14
2
Show member pathways
11.08 AMACR GNPAT HACL1 PHYH SCP2

GO Terms for Refsum Disease

Cellular components related to Refsum Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 AMACR CAT GNPAT PEX5 PHYH SCP2
2 peroxisome GO:0005777 9.8 AMACR CAT GNPAT HACL1 PEX1 PEX14
3 peroxisomal matrix GO:0005782 9.7 AMACR CAT GNPAT HACL1 PEX7 PHYH
4 integral component of peroxisomal membrane GO:0005779 9.43 PEX16 PEX2 PEX26
5 peroxisomal membrane GO:0005778 9.28 CAT GNPAT PEX1 PEX14 PEX16 PEX2

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.89 PEX1 PEX14 PEX26 PEX5 PEX7
2 fatty acid metabolic process GO:0006631 9.72 AMACR HACL1 PHYH
3 fatty acid beta-oxidation GO:0006635 9.63 PEX2 PEX5 PEX7
4 bile acid biosynthetic process GO:0006699 9.56 AMACR SCP2
5 peroxisome organization GO:0007031 9.56 PEX1 PEX14 PEX16 PEX2 PEX5 PEX6
6 response to fatty acid GO:0070542 9.54 CAT GNPAT
7 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.52 AMACR SCP2
8 cellular lipid metabolic process GO:0044255 9.51 GNPAT PEX5
9 fatty acid alpha-oxidation GO:0001561 9.48 HACL1 PHYH
10 protein targeting to peroxisome GO:0006625 9.46 PEX1 PEX16 PEX6 PEX7
11 ether lipid biosynthetic process GO:0008611 9.43 GNPAT PEX7
12 protein import into peroxisome membrane GO:0045046 9.43 PEX16 PEX26 PEX5
13 protein import into peroxisome matrix, docking GO:0016560 9.4 PEX14 PEX5
14 protein import into peroxisome matrix, translocation GO:0016561 9.37 PEX14 PEX6
15 negative regulation of protein homotetramerization GO:1901094 9.32 PEX14 PEX5
16 protein import into peroxisome matrix GO:0016558 9.17 PEX1 PEX14 PEX16 PEX2 PEX26 PEX5

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

id Name GO ID Score Top Affiliating Genes
1 cofactor binding GO:0048037 9.26 HACL1 PHYH
2 protein C-terminus binding GO:0008022 9.26 PEX1 PEX16 PEX26 PEX6
3 ATPase activity, coupled GO:0042623 9.16 PEX1 PEX6
4 receptor binding GO:0005102 9.1 AMACR CAT GNPAT HACL1 PEX14 SCP2

Sources for Refsum Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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