Refsum Disease malady

NIH Rare Diseases: 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.³⁰

MalaCards: Refsum Disease, also known as heredopathia atactica polyneuritiformis, is related to infantile refsum disease and refsum disease, infantile form. An important gene associated with Refsum Disease is PHYH (phytanoyl-CoA 2-hydroxylase), and among its related pathways are ABCA transporters in lipid homeostasis and Valine, leucine and isoleucine degradation. The drugs acetylcysteine and nitrous oxide and the compounds 2-hydroxyphytanoyl-coa and lignoceric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related mouse phenotypes are muscle and liver/biliary system.

NINDS: Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). ³¹

Genetics Home Reference: 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.¹⁷

Wikipedia: Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,...⁴⁴ more...

OMIM: 266500

GeneReviews summary for refsum

Aliases & Descriptions:

refsum disease 6 7 15 30 17 31 8 33 32 43 heredopathia atactica polyneuritiformis 6 30 17 31 phytanic acid storage disease 15 16 17 31 phytanic acid oxidase deficiency 15 30 16 adult refsum disease 15 16 17 refsum syndrome 15 16 hmsn type iv 6 17 disorder of cornification 11 (phytanic acid type) 30 hereditary motor and sensory neuropathy type iv 17 herditary sensory and motor neuropathy type 4 30 hereditary motor and sensory neuropathy iv 16 hereditary motorsensory neuropathy iv 15

respiratory distress syndrome, adult 43 hypertrophic neuropathy of refsum 30 doc 11 (phytanic acid type) 30 classic refsum disease 17 retinitis pigmentosa 43 inherited neuropathy 43 refsum's disease 6 hsmn iv 6 hmsn iv 17 hmsn 4 30 crd 17 ard 17

Diseases related to refsum disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 420)

id	Related Disease	Score	Top Affiliating Genes
1	infantile refsum disease	34.3	CAT, PEX1, PEX6
2	refsum disease, infantile form	32.5	PEX2, PEX26
3	peroxisome biogenesis disorders, zellweger syndrome spectrum	30.2	PEX1, PEX10, PEX12, PEX2, PEX26, PEX6
4	neonatal adrenoleukodystrophy	29.0	PEX1, PEX10, PEX13, PEX26, PEX5
5	zellweger syndrome spectrum	29.0	PEX13, PEX12, PEX10, PEX1, PEX14, PEX16
6	rhizomelic chondrodysplasia punctata	28.9	HADHB, PEX7, PHYH, CAT, GNPAT
7	neuropathy	28.5	HADHB, PEX7, ABHD12, PHYH, CAT, AMACR
8	ataxia	28.3	ABHD12, OGDH, PEX10, PEX2, PEX7, PHYH
9	rhyns syndrome	28.0	PEX7, ABHD12, PHYH, AMACR, RDPA
10	zellweger syndrome	24.0	PEX1, SLC25A17, ACOX1, ACAA1, PHYH, CAT
11	chondrodysplasia	22.7	PEX14, PEX13, PEX12, PEX10, PEX1, SLC25A17
12	chondrodysplasia punctata	22.7	HADHB, HACL1, PEX7, HSD17B4, GNPAT, SCP2
13	adrenoleukodystrophy	22.2	SCP2, PIPOX, AMACR, GNPAT, PEX2, PEX19
14	rhizomelic chondrodysplasia punctata type 2	13.5	PEX7, PHYH, GNPAT
15	mulibrey nanism	13.4	PEX7, PEX5, PEX1
16	beta-ketothiolase deficiency	13.4	ACAA1, PEX2, PEX6
17	d-bifunctional protein deficiency	13.4	HSD17B4, EHHADH
18	trifunctional protein deficiency	13.4	HADHB, EHHADH
19	mitochondrial trifunctional protein deficiency	13.4	HADHB, EHHADH
20	3-hydroxyacyl-coenzyme a dehydrogenase deficiency	13.3	EHHADH, HADHB
21	thiolase deficiency	13.2	HADHB, ACAA1, HSD17B4, AMACR
22	argininosuccinic aciduria	13.2	MID1, PEX2
23	peroxisome biogenesis disorders (pbd)	13.1	PEX2, PEX5, PEX14, PEX13, PEX1, PEX10
24	tyrosine-oxidase temporary deficiency	13.1	CAT, ACOX1
25	ichthyosis	13.0	PEX7, PHYH, GNPAT, ALDH3A2
26	vlcad deficiency	12.7	EHHADH, ACOX1, ALDH3A2
27	polyneuropathy	12.7	AMACR, CAT, ABHD12, PEX7
28	cerebellar ataxia	12.6	PEX7, PEX2, PHYH, ATCAY, SACS, RDPA
29	peripheral neuropathy	12.5	PEX7, ABHD12, PHYH, CAT, SACS, RDPA
30	rhizomelic chondrodysplasia punctata type 1	12.4	HADHB, PEX7, ACOX1, HSD17B4, SCP2
31	infantile onset spinocerebellar ataxia	12.4	SACS, ATCAY
32	hepatoblastoma	12.1	ADI1, EHHADH, ACOX1, CRAT, CAT
33	peroxisome biogenesis factor	12.1	PEX7, PEX6, PEX5, PEX3, PEX26, PEX2
34	seizures	11.9	PEX6, PEX5, PEX3, PEX26, PEX2, PEX19
35	peroxisomal disease	11.8	HADHB, HACL1, SLC25A17, ACOX1, PHYH, HSD17B4
36	hypotonia	11.8	PEX6, PEX5, PEX3, PEX26, PEX2, PEX19
37	protein s deficiency	11.4	HADHB, EHHADH, SLC25A17, ACOX1, HSD17B4, SCP2
38	tuberculosis	10.5	OGDH, PEX1, PEX6, HACL1, HADHB, ACAA1
39	peroxisomal biogenesis disorder	10.2	PIPOX, GNPAT, PEX5, PEX3, PEX26, PEX2
40	peroxisome biogenesis disorders	10.2	HSD17B4, GNPAT, PIPOX, CAT, ACAA1, PEX7
41	cholesterol	10.1	EHHADH, PEX5, PEX2, PEX19, PEX16, PEX1
42	usher syndrome	9.8
43	stargardt disease	9.2
44	retinitis pigmentosa-2	9.1
45	neuropathy ataxia retinitis pigmentosa syndrome	8.9
46	leber congenital amaurosis	8.8
47	posterior column ataxia with retinitis pigmentosa	8.8
48	retinitis pigmentosa 3	8.6
49	retinal degeneration	8.5
50	klhl7-related retinitis pigmentosa	8.3

Clinical features from OMIM: 266500

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 acetylcysteine, albumin,human, albumin,human inj [va product], epoprostenol, epoprostenol sodium, methylprednisolone, methylprednisolone acetate, methylprednisolone sodium succinate, nitrous oxide

Genetic tests related to refsum disease:

id	Genetic test	Affiliating Genes
1	Refsum Disease clinical/research	PHYH, PEX7

MalaCards organs/tissues related to refsum disease:

²²

MGI Mouse Phenotypes related to refsum disease:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.7	EHHADH, PEX7, PEX5, PEX13, CRAT, HSD17B4
2	liver/biliary system phenotype	MP:0005370	8.2	SCP2, HADHB, EHHADH, PEX7, PEX5, PEX2
3	homeostasis/metabolism phenotype	MP:0005376	6.7	PHYH, ACOX1, PEX2, PEX5, PEX7, EHHADH
4	growth/size phenotype	MP:0005378	6.5	ACOX1, PEX11A, PEX13, PEX2, PEX5, PEX7

Articles related to refsum disease:

(show all 31)

id	Title	Authors	Year	Affiliating Genes
1	The influence of the branched-chain fatty acids prist anic acid and Refsum disease-associated phytanic acid on mitochondrial function s and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocyt es. (19703563)	RAPnicke S.... Reiser G.	2009	AMACR
2	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)	Finsterer J.... Voigtlander T.	2008	PHYH
3	Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. (17956234)	Wanders R.J.... Komen J.C.	2007	CRAT, CROT
4	Phenotype of adult Refsum disease due to a defect in peroxin 7. (17325280)	Horn M.A.... Skjeldal O.H.	2007	PHYH, PEX7
5	Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)	Bunik V.I.... Reiser G.	2006	OGDH
6	CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. (16707724)	Xu F.... de Montellano P.R.	2006	PHYH
7	Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)	McDonough M.A.... Schofield C.J.	2005	PHYH
8	Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (14974078)	Jansen G.A.... Wanders R.J.A.	2004	PHYH, PEX7
9	Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)	Komen J.C.... Wanders R.J.	2004	PHYH
10	Identification of PEX7 as the second gene involved in Refsum disease. (14713215)	van den Brink D.M.... Wanders R.J.	2003	PEX7
11	Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)	Foulon V.... Van Veldhoven P.P.	2003	PHYH
12	Identification of PEX7 as the second gene involved in Refsum disease. (12522768)	van den Brink D.M.... Wanders R.J.A.	2003	PHYH, PEX7
13	Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. (11948235)	Wierzbicki A.S.... Gibberd F.B.	2002	SCP2, AMACR, PHYH
14	Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. (11555634)	Mukherji M.... Lloyd M.D.	2001	PHYH
15	Identification of genetic heterogeneity in Refsum's disease. (10951529)	Wierzbicki A.S.... Gibberd F.B.	2000	PHYH
16	Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (10767344)	Jansen G.A.... Wanders R.J.A.	2000	PHYH
17	Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)	Baumgartner M.R.... Saudubray J.M.	2000	CAT
18	Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (10686344)	Lee Z.H.... Kim K.K.	2000	PHYH, PHYHIP
19	Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)	Jansen G.A.... Wanders R.J.A.	1999	PHYH
20	Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)	Chambraud B.... Baulieu E.-E.	1999	FKBP4, PHYH, GLMN
21	Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene. (9657395)	Chahal A.... Singh I.	1998	PHYH
22	Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. (9671729)	Geisbrecht B.V.... Gould S.J.	1998	PEX1, PEX6
23	Identification of PAHX, a Refsum disease gene. (9326939)	Mihalik S.J.... Gould S.J.	1997	PHYH, PEX7
24	Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. (9221344)	Jansen G.A.... Mihalik S.J.	1997	PHYH
25	Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (9326940)	Jansen G.A.... Wanders R.J.A.	1997	PHYH
26	Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)	Jansen G.A.... Wanders R.J.	1997	PHYH
27	Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. (7519689)	Bachir Bioukar E.... Deschatrette J.	1994	GNPAT
28	Refsum Disease (20301527)	Wanders R.J.A.... Leroy B.P.	1993	PHYH, PEX7
29	Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. (7510868)	Aubourg P.... Singh I.	1993	CAT, HADHB, GNPAT
30	Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect? (7687405)	Schmitt K.... Tulzer W.	1993	CAT
31	Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder. (1690986)	Watkins P.A.... Mihalik S.J.	1990	PHYH

Genes related to refsum disease according to GeneCards:

(show all 41)

id	Symbol	Description	Score	GeneCards Section Context
1	PHYH	phytanoyl-CoA 2-hydroxylase	11.1	Summaries, Publications, Aliases & Descriptions, Orthologs
2	PEX26	peroxisomal biogenesis factor 26	11.1	Summaries
3	PEX2	peroxisomal biogenesis factor 2	11.1	Summaries, Orthologs
4	PEX1	peroxisomal biogenesis factor 1	11.1	Publications, Summaries
5	PEX7	peroxisomal biogenesis factor 7	11.1	Publications, Summaries
6	RDPA	refsum disease, adult, with increased pipecolicacidemia	11.1	Aliases & Descriptions
7	PEX5	peroxisomal biogenesis factor 5	11.1	Summaries
8	CAT	catalase	11.0	Publications
9	PEX6	peroxisomal biogenesis factor 6	11.0	Publications
10	PEX12	peroxisomal biogenesis factor 12	11.0
11	PEX10	peroxisomal biogenesis factor 10	11.0
12	PEX16	peroxisomal biogenesis factor 16	11.0
13	PEX13	peroxisomal biogenesis factor 13	11.0
14	PEX19	peroxisomal biogenesis factor 19	11.0
15	GNPAT	glyceronephosphate O-acyltransferase	11.0	Publications
16	PEX3	peroxisomal biogenesis factor 3	11.0
17	ACAA1	acetyl-CoA acyltransferase 1	11.0
18	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	11.0	Publications
19	AMACR	alpha-methylacyl-CoA racemase	11.0	Publications
20	EHHADH	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	11.0	UniProt Related
21	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	11.0
22	PEX14	peroxisomal biogenesis factor 14	11.0
23	MID1	midline 1 (Opitz/BBB syndrome)	11.0	Disorders
24	PHYHIP	phytanoyl-CoA 2-hydroxylase interacting protein	11.0	Publications, Disorders
25	PEX11A	peroxisomal biogenesis factor 11 alpha	11.0
26	PIPOX	pipecolic acid oxidase	11.0
27	CROT	carnitine O-octanoyltransferase	11.0	Publications, Disorders
28	GLMN	glomulin, FKBP associated protein	11.0	Publications, Disorders
29	HACL1	2-hydroxyacyl-CoA lyase 1	11.0	Publications
30	ADI1	acireductone dioxygenase 1	11.0
31	PHYHIPL	phytanoyl-CoA 2-hydroxylase interacting protein-like	11.0
32	ALDH3A2	aldehyde dehydrogenase 3 family, member A2	11.0
33	FKBP4	FK506 binding protein 4, 59kDa	11.0	Publications
34	ATCAY	ataxia, cerebellar, Cayman type	11.0
35	CRAT	carnitine O-acetyltransferase	11.0	Publications
36	SCP2	sterol carrier protein 2	11.0	Publications
37	ACOX1	acyl-CoA oxidase 1, palmitoyl	11.0
38	ABHD12	abhydrolase domain containing 12	11.0
39	OGDH	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	11.0	Publications
40	SLC25A17	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	11.0
41	SACS	spastic ataxia of Charlevoix-Saguenay (sacsin)	11.0

Pathways related to refsum disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	ABCA transporters in lipid homeostasis38	10.2	PEX19, PEX3
2	Valine, leucine and isoleucine degradation20	9.8	HADHB, EHHADH, ACAA1, ALDH3A2
3	Primary bile acid biosynthesis20	9.6	HSD17B4, AMACR, SCP2
4	Fatty acid metabolism20	9.4	HADHB, EHHADH, ACOX1, ACAA1, ALDH3A2
5	Tryptophan metabolism20	9.4	EHHADH, OGDH, CAT, ALDH3A2
6	Lysine degradation20	9.2	PIPOX, ALDH3A2, OGDH, EHHADH
7	PPAR signaling pathway20	9.0	SCP2, ACAA1, ACOX1, EHHADH
8	Metabolic pathways20	7.4	HADHB, ADI1, EHHADH, OGDH, ACOX1, ACAA1
9	Metabolism of lipids and lipoproteins38	7.4	HACL1, SLC25A17, ACOX1, ACAA1, PHYH, CROT
10	Peroxisome20	5.1	PIPOX, PEX13, PEX14, PEX16, PEX19, PEX2

Compounds related to refsum disease according to GeneDecks:

(show all 39)

id	Compound	Score	Top Affiliating Genes
1	2-hydroxyphytanoyl-coa32 18	11.5	PHYH, HACL1
2	lignoceric acid32	10.5	HADHB, GNPAT
3	benzoyl-coa32 18	11.4	HADHB, ACAA1
4	(S)-3-hydroxypalmitoleoyl-CoA18	10.4	EHHADH, HSD17B4
5	(3S)-3-Hydroxyadipyl-CoA18	10.4	HADHB, EHHADH, HSD17B4
6	(S)-Hydroxyoctanoyl-CoA18	10.3	EHHADH, HSD17B4
7	3-methylcrotonyl-coa32 18	11.3	HADHB, EHHADH, ACAA1
8	(S)-Hydroxyhexanoyl-CoA18	10.3	EHHADH, HSD17B4
9	(S)-Hydroxydecanoyl-CoA18	10.3	EHHADH, HSD17B4
10	(S)-3-Hydroxytetradecanoyl-CoA18	10.3	EHHADH, HSD17B4
11	trimetazidine32	10.3	HADHB, CAT
12	(S)-3-Hydroxydodecanoyl-CoA18	10.2	EHHADH, HSD17B4
13	(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium9 9	11.2	CRAT, CROT
14	(S)-Methylmalonic acid semialdehyde18	10.2	EHHADH, HSD17B4, ALDH3A2
15	salicylhydroxamic acid32	10.2	ACOX1, CAT
16	(S)-3-Hydroxyhexadecanoyl-CoA18	10.1	HSD17B4, EHHADH
17	2-methyl-3-hydroxybutyryl-coa32 18	11.0	HSD17B4, EHHADH
18	3-oxoacyl-coa32	10.0	SCP2, GNPAT, ACAA1, EHHADH
19	2-methylbutyryl-coa32 18	10.9	HADHB, ACOX1, ACAA1, GNPAT
20	stearoyl-coa32 18	10.8	HADHB, ACOX1, ACAA1, GNPAT
21	(2E)-Octenoyl-CoA18	9.8	ACAA1, ACOX1, EHHADH, HADHB, GNPAT
22	(2E)-Tetradecenoyl-CoA18	9.8	GNPAT, ACAA1, ACOX1, EHHADH, HADHB
23	(2E)-Dodecenoyl-CoA18	9.8	HADHB, GNPAT, ACAA1, ACOX1, EHHADH
24	(2E)-Decenoyl-CoA18	9.7	GNPAT, ACAA1, ACOX1, EHHADH, HADHB
25	(2E)-Hexadecenoyl-CoA18	9.7	HADHB, EHHADH, ACOX1, ACAA1, GNPAT
26	octanoyl-coa32 18	10.7	HADHB, ACOX1, ACAA1, CROT, GNPAT
27	pristanic acid32 18	10.7	EHHADH, GNPAT, ALDH3A2, AMACR, SCP2
28	citrate32	9.4	HADHB, OGDH, CRAT, CAT, AMACR
29	carboxylate32	9.3	ADI1, ACOX1, SCP2
30	phytanic acid32	9.3	SCP2, AMACR, ALDH3A2, GNPAT, CAT, PHYH
31	Coenzyme A9 18 9	11.2	HADHB, OGDH, ACAA1, CROT, CRAT, GNPAT
32	glyoxylate32	9.1	ACOX1, OGDH
33	nadh32 9 18 9	12.0	EHHADH, OGDH, CRAT, CAT, HSD17B4, ALDH3A2
34	carnitine32	9.0	CRAT, CROT, ACOX1, OGDH, HADHB
35	sterol32	9.0	HADHB, EHHADH, ACOX1, CRAT, HSD17B4, AMACR
36	acetyl-coa32 18	9.9	HADHB, ACOX1, ACAA1, CROT, CRAT, GNPAT
37	lipid32	7.7	HADHB, PEX5, PEX2, PEX1, OGDH, ACOX1
38	acyl-coa32	7.5	SCP2, HADHB, EHHADH, PEX6, AMACR, GNPAT
39	fatty acid32	7.5	ACOX1, OGDH, PEX7, EHHADH, HADHB, PHYH

Cellular components related to refsum disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intracellular membrane-bounded organelle	GO:043231	8.8	PEX3, PEX1, ACAA1, CROT, HSD17B4, ALDH3A2
2	integral to peroxisomal membrane	GO:005779	8.7	PEX3, PEX26, PEX2, PEX16, PEX13, PEX12
3	peroxisomal matrix	GO:005782	7.7	HSD17B4, GNPAT, AMACR, SCP2, CAT, CRAT
4	peroxisomal membrane	GO:005778	7.1	PEX6, PEX5, PEX3, PEX2, PEX19, PEX16
5	mitochondrion	GO:005739	5.8	HADHB, EHHADH, PEX5, SLC25A17, OGDH, ACOX1
6	peroxisome	GO:005777	4.8	PIPOX, PEX11A, PEX10, PEX1, SLC25A17, ACOX1

Biological processes related to refsum disease according to GeneDecks:

(show all 22)

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule-based peroxisome localization	GO:060152	10.3	PEX13, PEX1
2	negative regulation of protein homotetramerization	GO:1901094	10.3	PEX5, PEX14
3	protein import into peroxisome matrix, translocation	GO:016561	10.3	PEX6, PEX5, PEX14
4	protein import into peroxisome matrix, docking	GO:016560	10.2	PEX5, PEX13
5	cerebral cortex cell migration	GO:021795	10.2	PEX13, PEX5
6	protein import into peroxisome membrane	GO:045046	10.1	PEX5, PEX3, PEX26, PEX19, PEX16
7	peroxisome membrane biogenesis	GO:016557	10.1	PEX11A, PEX16, PEX19, PEX3
8	protein targeting to peroxisome	GO:006625	10.1	PEX6, PEX5, PEX19, PEX16, PEX12, PEX1
9	ether lipid biosynthetic process	GO:008611	9.9	GNPAT, PEX7
10	neuron migration	GO:001764	9.9	PEX7, PEX5, PEX2, PEX13
11	very long-chain fatty acid metabolic process	GO:000038	9.9	ACAA1, ACOX1, PEX5
12	bile acid biosynthetic process	GO:006699	9.8	SCP2, AMACR, HSD17B4, PEX2
13	bile acid metabolic process	GO:008206	9.7	ACAA1, HSD17B4, AMACR, SCP2
14	protein import into peroxisome matrix	GO:016558	9.7	PEX7, PEX5, PEX26, PEX2, PEX16, PEX14
15	alpha-linolenic acid metabolic process	GO:036109	9.5	ACOX1, ACAA1, HSD17B4, SCP2
16	unsaturated fatty acid metabolic process	GO:033559	9.5	ACOX1, ACAA1, HSD17B4, SCP2
17	fatty acid alpha-oxidation	GO:001561	9.4	HACL1, PEX13, SLC25A17, PHYH
18	peroxisome organization	GO:007031	9.3	PEX7, PEX6, PEX3, PEX2, PEX19, PEX16
19	fatty acid beta-oxidation using acyl-CoA oxidase	GO:033540	8.8	ACOX1, ACAA1, CROT, CRAT, HSD17B4, AMACR
20	fatty acid beta-oxidation	GO:006635	8.8	PEX5, PEX2, SLC25A17, ACAA1, CROT, HSD17B4
21	cellular lipid metabolic process	GO:044255	7.1	ACOX1, ACAA1, PHYH, CROT, CRAT, HSD17B4
22	small molecule metabolic process	GO:044281	6.1	ACOX1, OGDH, SLC25A17, PEX11A, ADI1, HACL1

Molecular functions related to refsum disease according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	long-chain-enoyl-CoA hydratase activity	GO:016508	10.2	HADHB, HSD17B4
2	acetyl-CoA C-acyltransferase activity	GO:003988	10.2	HADHB, ACAA1
3	3-hydroxyacyl-CoA dehydrogenase activity	GO:003857	10.1	HADHB, EHHADH, HSD17B4
4	enoyl-CoA hydratase activity	GO:004300	10.0	EHHADH, HADHB
5	sterol binding	GO:032934	9.9	SCP2, HSD17B4
6	protein C-terminus binding	GO:008022	9.9	PEX6, PEX5, PEX26, PEX16, PEX12, PEX10
7	protein N-terminus binding	GO:047485	9.6	ACOX1, PEX14, PEX19, PEX5
8	thiamine pyrophosphate binding	GO:030976	9.3	OGDH, HACL1
9	receptor binding	GO:005102	7.8	PIPOX, HACL1, EHHADH, PEX14, ACOX1, CROT
10	protein binding	GO:005515	6.1	PEX14, PEX16, PEX19, PEX2, PEX26, PEX3