MCID: PRX028
MIFTS: 52

Peroxisomal Acyl-Coa Oxidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Peroxisomal Acyl-Coa Oxidase Deficiency

MalaCards integrated aliases for Peroxisomal Acyl-Coa Oxidase Deficiency:

Name: Peroxisomal Acyl-Coa Oxidase Deficiency 57 12 53 25 59 75 37 13 44 15 73
Pseudoneonatal Adrenoleukodystrophy 57 53 25 29 6
Straight-Chain Acyl-Coa Oxidase Deficiency 57 53 25
Pseudoadrenoleukodystrophy 53 25 59
Pseudo-Nald 25 59 75
Pseudo-Neonatal Adrenoleukodystrophy 53 59
Deficiency, Peroxisomal Acyl-Coa Oxidase 40
Adrenoleukodystrophy, Pseudoneonatal 75
Peroxisomal Acyl-Coenzyme a Oxidase 12
Acyl-Coenzyme a Oxidase Deficiency 25
Acyl-Coa Oxidase Deficiency 73

Characteristics:

Orphanet epidemiological data:

59
peroxisomal acyl-coa oxidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
neurologic deterioration is severe after age 2 to 2.5 years


HPO:

32
peroxisomal acyl-coa oxidase deficiency:
Mortality/Aging death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisomal Acyl-Coa Oxidase Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2971Disease definitionPeroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.EpidemiologyAcyl-CoA oxidase deficiency is a rare disease with only 30-40 patients identified world-wide so far.Clinical descriptionThe disease manifests in the neonatal period with hypotonia (92%) and seizures (91%) as dominant features. Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly. Psychomotor development is delayed, but children are usually able to walk and say a few words. However, neurological regression occurs usually at the age of 1-3 years (mean age: 28 months). Hypotonia is replaced by hypertonia with hyperreflexia. Epilepsy may become more severe and sensorineural hearing loss may appear. Strabismus, nystagmus, and optic atrophy can also occur.EtiologyPeroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene (17q25.1) encoding peroxisomal straight-chain acyl-CoA oxidase.Diagnostic methodsDiagnosis is based on laboratory studies revealing increased serum very-long chain fatty acids (VLCFA) and markedly reduced acyl-CoA oxidase activity in fibroblasts. MRI examination of the brain shows abnormal white matter signals. Diagnosis can be confirmed by the presence of mutations in the ACOX1 gene.Differential diagnosisDifferential diagnoses include Usher syndrome (see this term) and all causes of neonatal hypotonia. The other peroxisomal disorders should also be discarded, especially neonatal adrenoleukodystrophy (see this term), which presents similar clinical manifestations.Antenatal diagnosisAntenatal diagnosis is possible through biochemical and/or molecular analysis of amniocytes or chorionic villus cells.Genetic counselingTransmission is autosomal recessive. Genetic counseling should be offered to the families of patients.Management and treatmentNo specific treatment is available. Multidisciplinary supportive care should be offered.PrognosisPrognosis is unfavorable; death usually occurs at around 5 years from respiratory issues.Visit the Orphanet disease page for more resources.

MalaCards based summary : Peroxisomal Acyl-Coa Oxidase Deficiency, also known as pseudoneonatal adrenoleukodystrophy, is related to d-bifunctional protein deficiency and adrenoleukodystrophy, and has symptoms including seizures and abnormal pyramidal signs. An important gene associated with Peroxisomal Acyl-Coa Oxidase Deficiency is ACOX1 (Acyl-CoA Oxidase 1), and among its related pathways/superpathways are Fatty acid degradation and Peroxisome. The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995). (264470)

UniProtKB/Swiss-Prot : 75 Adrenoleukodystrophy, pseudoneonatal: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo- NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.

Genetics Home Reference : 25 Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.

Disease Ontology : 12 A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

Related Diseases for Peroxisomal Acyl-Coa Oxidase Deficiency

Graphical network of the top 20 diseases related to Peroxisomal Acyl-Coa Oxidase Deficiency:



Diseases related to Peroxisomal Acyl-Coa Oxidase Deficiency

Symptoms & Phenotypes for Peroxisomal Acyl-Coa Oxidase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, sensorineural, bilateral

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
pigmentary retinopathy
tapetoretinal degeneration
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
brachycephaly

Abdomen Liver:
abnormal liver function tests
hepatomegaly, mild
hepatic steatosis, diffuse
liver biopsy shows normal numbers of enlarged peroxisomes

Chest Breasts:
inverted nipples (uncommon)

Head And Neck Face:
frontal bossing

Neurologic Central Nervous System:
seizures
dystonia
leukodystrophy
extensor plantar responses
mental retardation, severe
more
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Neurologic Behavioral Psychiatric Manifestations:
irritability
no social interaction
stereotypical movements

Laboratory Abnormalities:
normal serum plasmalogen
increased plasma levels of very-long chain fatty acids (vlcfa)
decreased or absent peroxisome acyl-coa oxidase activity and protein


Clinical features from OMIM:

264470

Human phenotypes related to Peroxisomal Acyl-Coa Oxidase Deficiency:

59 32 (showing 49, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
10 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
11 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
12 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
13 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
15 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
16 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
17 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
18 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
19 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
20 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
21 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
22 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
23 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
24 abnormality of nervous system morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012639
25 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
26 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
27 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
28 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
29 frontal bossing 32 HP:0002007
30 dysphagia 32 HP:0002015
31 wide nasal bridge 32 HP:0000431
32 neonatal hypotonia 32 HP:0001319
33 brachycephaly 32 HP:0000248
34 irritability 32 HP:0000737
35 death in infancy 59 Frequent (79-30%)
36 severe global developmental delay 32 HP:0011344
37 elevated hepatic transaminases 32 HP:0002910
38 inverted nipples 32 HP:0003186
39 babinski sign 32 HP:0003487
40 dystonia 32 HP:0001332
41 intellectual disability, progressive 32 HP:0006887
42 leukodystrophy 32 HP:0002415
43 pigmentary retinopathy 32 HP:0000580
44 tapetoretinal degeneration 32 HP:0000547
45 bilateral sensorineural hearing impairment 32 HP:0008619
46 no social interaction 32 HP:0008763
47 diffuse hepatic steatosis 32 HP:0006555
48 cns demyelination 32 HP:0007305
49 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

UMLS symptoms related to Peroxisomal Acyl-Coa Oxidase Deficiency:


seizures, abnormal pyramidal signs

MGI Mouse Phenotypes related to Peroxisomal Acyl-Coa Oxidase Deficiency:

46 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ACOX1 AGXT CAT HSD17B4 PEX5 PPARA
2 liver/biliary system MP:0005370 9.02 ACOX1 HSD17B4 PEX5 PPARA SCP2

Drugs & Therapeutics for Peroxisomal Acyl-Coa Oxidase Deficiency

Drugs for Peroxisomal Acyl-Coa Oxidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 22, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Alkylating Agents Phase 2
11 Antilymphocyte Serum Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Alpha-lipoic Acid Nutraceutical Phase 2
22 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 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)

Search NIH Clinical Center for Peroxisomal Acyl-Coa Oxidase Deficiency

Cochrane evidence based reviews: peroxisomal acyl-coa oxidase deficiency

Genetic Tests for Peroxisomal Acyl-Coa Oxidase Deficiency

Genetic tests related to Peroxisomal Acyl-Coa Oxidase Deficiency:

# Genetic test Affiliating Genes
1 Pseudoneonatal Adrenoleukodystrophy 29 ACOX1

Anatomical Context for Peroxisomal Acyl-Coa Oxidase Deficiency

MalaCards organs/tissues related to Peroxisomal Acyl-Coa Oxidase Deficiency:

41
Liver, Brain, Eye, Testes

Publications for Peroxisomal Acyl-Coa Oxidase Deficiency

Articles related to Peroxisomal Acyl-Coa Oxidase Deficiency:

(showing 4, show less)
# Title Authors Year
1
Peroxisomal acyl-CoA-oxidase deficiency: two new cases. ( 18536048 )
2008
2
Peroxisomal acyl-CoA oxidase deficiency. ( 11815777 )
2002
3
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. ( 8279468 )
1994
4
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase. ( 1779614 )
1991

Variations for Peroxisomal Acyl-Coa Oxidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Peroxisomal Acyl-Coa Oxidase Deficiency:

75 (showing 6, show less)
# Symbol AA change Variation ID SNP ID
1 ACOX1 p.Gly178Cys VAR_025789 rs118204091
2 ACOX1 p.Met278Val VAR_025790 rs118204090
3 ACOX1 p.Ser184Leu VAR_067041 rs780887410
4 ACOX1 p.Gly231Val VAR_067042
5 ACOX1 p.Gln309Arg VAR_067043 rs118204092
6 ACOX1 p.Ser310Pro VAR_067044 rs758962364

ClinVar genetic disease variations for Peroxisomal Acyl-Coa Oxidase Deficiency:

6
(showing 236, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACOX1 nsv513791 deletion Pathogenic
2 ACOX1 NM_004035.6(ACOX1): c.832A> G (p.Met278Val) single nucleotide variant Pathogenic rs118204090 GRCh37 Chromosome 17, 73949644: 73949644
3 ACOX1 NM_004035.6(ACOX1): c.832A> G (p.Met278Val) single nucleotide variant Pathogenic rs118204090 GRCh38 Chromosome 17, 75953563: 75953563
4 ACOX1 NM_004035.6(ACOX1): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs118204091 GRCh37 Chromosome 17, 73953546: 73953546
5 ACOX1 NM_004035.6(ACOX1): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs118204091 GRCh38 Chromosome 17, 75957465: 75957465
6 ACOX1 NM_004035.6(ACOX1): c.926A> G (p.Gln309Arg) single nucleotide variant Pathogenic rs118204092 GRCh37 Chromosome 17, 73949550: 73949550
7 ACOX1 NM_004035.6(ACOX1): c.926A> G (p.Gln309Arg) single nucleotide variant Pathogenic rs118204092 GRCh38 Chromosome 17, 75953469: 75953469
8 ACOX1 NM_004035.6(ACOX1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs118204093 GRCh37 Chromosome 17, 73953636: 73953636
9 ACOX1 NM_004035.6(ACOX1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs118204093 GRCh38 Chromosome 17, 75957555: 75957555
10 ACOX1 NM_004035.6(ACOX1): c.372_389del18 (p.Phe124_Asn129del) deletion Pathogenic rs387906248 GRCh37 Chromosome 17, 73956337: 73956354
11 ACOX1 NM_004035.6(ACOX1): c.372_389del18 (p.Phe124_Asn129del) deletion Pathogenic rs387906248 GRCh38 Chromosome 17, 75960256: 75960273
12 ACOX1 nsv513790 deletion Pathogenic
13 ACOX1 NM_004035.6(ACOX1): c.1851delT (p.Gly618Alafs) deletion Likely pathogenic rs797045080 GRCh38 Chromosome 17, 75948335: 75948335
14 ACOX1 NM_004035.6(ACOX1): c.1851delT (p.Gly618Alafs) deletion Likely pathogenic rs797045080 GRCh37 Chromosome 17, 73944416: 73944416
15 ACOX1 NM_004035.6(ACOX1): c.176G> C (p.Arg59Pro) single nucleotide variant Likely pathogenic rs777937235 GRCh38 Chromosome 17, 75978627: 75978627
16 ACOX1 NM_004035.6(ACOX1): c.176G> C (p.Arg59Pro) single nucleotide variant Likely pathogenic rs777937235 GRCh37 Chromosome 17, 73974708: 73974708
17 ACOX1 NM_004035.6(ACOX1): c.80C> T (p.Pro27Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145082938 GRCh38 Chromosome 17, 75978994: 75978994
18 ACOX1 NM_004035.6(ACOX1): c.80C> T (p.Pro27Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145082938 GRCh37 Chromosome 17, 73975075: 73975075
19 ACOX1 NM_004035.6(ACOX1): c.1771C> T (p.Arg591Cys) single nucleotide variant Benign/Likely benign rs35629489 GRCh38 Chromosome 17, 75948415: 75948415
20 ACOX1 NM_004035.6(ACOX1): c.1771C> T (p.Arg591Cys) single nucleotide variant Benign/Likely benign rs35629489 GRCh37 Chromosome 17, 73944496: 73944496
21 ACOX1 NM_004035.6(ACOX1): c.1320T> C (p.Asp440=) single nucleotide variant Benign/Likely benign rs8065946 GRCh38 Chromosome 17, 75949876: 75949876
22 ACOX1 NM_004035.6(ACOX1): c.1320T> C (p.Asp440=) single nucleotide variant Benign/Likely benign rs8065946 GRCh37 Chromosome 17, 73945957: 73945957
23 ACOX1 NM_004035.6(ACOX1): c.936C> G (p.Ile312Met) single nucleotide variant Benign rs1135640 GRCh38 Chromosome 17, 75953459: 75953459
24 ACOX1 NM_004035.6(ACOX1): c.936C> G (p.Ile312Met) single nucleotide variant Benign rs1135640 GRCh37 Chromosome 17, 73949540: 73949540
25 ACOX1 NM_004035.6(ACOX1): c.921G> A (p.Arg307=) single nucleotide variant Uncertain significance rs79677613 GRCh38 Chromosome 17, 75953474: 75953474
26 ACOX1 NM_004035.6(ACOX1): c.921G> A (p.Arg307=) single nucleotide variant Uncertain significance rs79677613 GRCh37 Chromosome 17, 73949555: 73949555
27 ACOX1 NM_004035.6(ACOX1): c.*5124A> G single nucleotide variant Likely benign rs73355712 GRCh38 Chromosome 17, 75941624: 75941624
28 ACOX1 NM_004035.6(ACOX1): c.*5124A> G single nucleotide variant Likely benign rs73355712 GRCh37 Chromosome 17, 73937705: 73937705
29 ACOX1 NM_004035.6(ACOX1): c.*5037T> C single nucleotide variant Uncertain significance rs532148425 GRCh38 Chromosome 17, 75941711: 75941711
30 ACOX1 NM_004035.6(ACOX1): c.*5037T> C single nucleotide variant Uncertain significance rs532148425 GRCh37 Chromosome 17, 73937792: 73937792
31 ACOX1 NM_004035.6(ACOX1): c.*4516G> A single nucleotide variant Uncertain significance rs553127304 GRCh38 Chromosome 17, 75942232: 75942232
32 ACOX1 NM_004035.6(ACOX1): c.*4516G> A single nucleotide variant Uncertain significance rs553127304 GRCh37 Chromosome 17, 73938313: 73938313
33 ACOX1 NM_004035.6(ACOX1): c.*4295_*4296delGC deletion Uncertain significance rs886053437 GRCh37 Chromosome 17, 73938533: 73938534
34 ACOX1 NM_004035.6(ACOX1): c.*4295_*4296delGC deletion Uncertain significance rs886053437 GRCh38 Chromosome 17, 75942452: 75942453
35 ACOX1 NM_004035.6(ACOX1): c.*4021C> T single nucleotide variant Uncertain significance rs536938567 GRCh37 Chromosome 17, 73938808: 73938808
36 ACOX1 NM_004035.6(ACOX1): c.*4021C> T single nucleotide variant Uncertain significance rs536938567 GRCh38 Chromosome 17, 75942727: 75942727
37 ACOX1 NM_004035.6(ACOX1): c.*3988A> T single nucleotide variant Uncertain significance rs149774605 GRCh37 Chromosome 17, 73938841: 73938841
38 ACOX1 NM_004035.6(ACOX1): c.*3988A> T single nucleotide variant Uncertain significance rs149774605 GRCh38 Chromosome 17, 75942760: 75942760
39 ACOX1 NM_004035.6(ACOX1): c.*3943C> T single nucleotide variant Likely benign rs16968333 GRCh37 Chromosome 17, 73938886: 73938886
40 ACOX1 NM_004035.6(ACOX1): c.*3943C> T single nucleotide variant Likely benign rs16968333 GRCh38 Chromosome 17, 75942805: 75942805
41 ACOX1 NM_004035.6(ACOX1): c.*3531dupT duplication Uncertain significance rs572895309 GRCh37 Chromosome 17, 73939298: 73939298
42 ACOX1 NM_004035.6(ACOX1): c.*3531dupT duplication Uncertain significance rs572895309 GRCh38 Chromosome 17, 75943217: 75943217
43 ACOX1 NM_004035.6(ACOX1): c.*3377dupT duplication Uncertain significance rs886053440 GRCh37 Chromosome 17, 73939452: 73939452
44 ACOX1 NM_004035.6(ACOX1): c.*3377dupT duplication Uncertain significance rs886053440 GRCh38 Chromosome 17, 75943371: 75943371
45 ACOX1 NM_004035.6(ACOX1): c.*3345C> A single nucleotide variant Uncertain significance rs745760931 GRCh37 Chromosome 17, 73939484: 73939484
46 ACOX1 NM_004035.6(ACOX1): c.*3345C> A single nucleotide variant Uncertain significance rs745760931 GRCh38 Chromosome 17, 75943403: 75943403
47 ACOX1 NM_004035.6(ACOX1): c.*2771A> C single nucleotide variant Likely benign rs9915973 GRCh37 Chromosome 17, 73940058: 73940058
48 ACOX1 NM_004035.6(ACOX1): c.*2771A> C single nucleotide variant Likely benign rs9915973 GRCh38 Chromosome 17, 75943977: 75943977
49 ACOX1 NM_004035.6(ACOX1): c.*2737C> T single nucleotide variant Uncertain significance rs777324722 GRCh38 Chromosome 17, 75944011: 75944011
50 ACOX1 NM_004035.6(ACOX1): c.*2737C> T single nucleotide variant Uncertain significance rs777324722 GRCh37 Chromosome 17, 73940092: 73940092
51 ACOX1 NM_004035.6(ACOX1): c.*2643C> T single nucleotide variant Uncertain significance rs886053441 GRCh38 Chromosome 17, 75944105: 75944105
52 ACOX1 NM_004035.6(ACOX1): c.*2643C> T single nucleotide variant Uncertain significance rs886053441 GRCh37 Chromosome 17, 73940186: 73940186
53 ACOX1 NM_004035.6(ACOX1): c.*2235G> C single nucleotide variant Uncertain significance rs539726478 GRCh38 Chromosome 17, 75944513: 75944513
54 ACOX1 NM_004035.6(ACOX1): c.*2235G> C single nucleotide variant Uncertain significance rs539726478 GRCh37 Chromosome 17, 73940594: 73940594
55 ACOX1 NM_004035.6(ACOX1): c.*1853T> C single nucleotide variant Uncertain significance rs373499939 GRCh37 Chromosome 17, 73940976: 73940976
56 ACOX1 NM_004035.6(ACOX1): c.*1853T> C single nucleotide variant Uncertain significance rs373499939 GRCh38 Chromosome 17, 75944895: 75944895
57 ACOX1 NM_004035.6(ACOX1): c.*1135_*1141delGGTTAAA deletion Likely benign rs148425334 GRCh38 Chromosome 17, 75945607: 75945613
58 ACOX1 NM_004035.6(ACOX1): c.*1135_*1141delGGTTAAA deletion Likely benign rs148425334 GRCh37 Chromosome 17, 73941688: 73941694
59 ACOX1 NM_004035.6(ACOX1): c.*1083C> T single nucleotide variant Uncertain significance rs886053448 GRCh38 Chromosome 17, 75945665: 75945665
60 ACOX1 NM_004035.6(ACOX1): c.*1083C> T single nucleotide variant Uncertain significance rs886053448 GRCh37 Chromosome 17, 73941746: 73941746
61 ACOX1 NM_004035.6(ACOX1): c.*959dupT duplication Uncertain significance rs35453987 GRCh37 Chromosome 17, 73941870: 73941870
62 ACOX1 NM_004035.6(ACOX1): c.*959dupT duplication Uncertain significance rs35453987 GRCh38 Chromosome 17, 75945789: 75945789
63 ACOX1 NM_004035.6(ACOX1): c.*721A> G single nucleotide variant Uncertain significance rs561931985 GRCh37 Chromosome 17, 73942108: 73942108
64 ACOX1 NM_004035.6(ACOX1): c.*721A> G single nucleotide variant Uncertain significance rs561931985 GRCh38 Chromosome 17, 75946027: 75946027
65 ACOX1 NM_004035.6(ACOX1): c.*620G> A single nucleotide variant Uncertain significance rs777876086 GRCh37 Chromosome 17, 73942209: 73942209
66 ACOX1 NM_004035.6(ACOX1): c.*620G> A single nucleotide variant Uncertain significance rs777876086 GRCh38 Chromosome 17, 75946128: 75946128
67 ACOX1 NM_004035.6(ACOX1): c.*441G> A single nucleotide variant Uncertain significance rs182375752 GRCh37 Chromosome 17, 73942388: 73942388
68 ACOX1 NM_004035.6(ACOX1): c.*441G> A single nucleotide variant Uncertain significance rs182375752 GRCh38 Chromosome 17, 75946307: 75946307
69 ACOX1 NM_004035.6(ACOX1): c.*155A> T single nucleotide variant Uncertain significance rs544439410 GRCh37 Chromosome 17, 73942674: 73942674
70 ACOX1 NM_004035.6(ACOX1): c.*155A> T single nucleotide variant Uncertain significance rs544439410 GRCh38 Chromosome 17, 75946593: 75946593
71 ACOX1 NM_004035.6(ACOX1): c.1584+11G> A single nucleotide variant Uncertain significance rs185329691 GRCh38 Chromosome 17, 75949484: 75949484
72 ACOX1 NM_004035.6(ACOX1): c.1584+11G> A single nucleotide variant Uncertain significance rs185329691 GRCh37 Chromosome 17, 73945565: 73945565
73 ACOX1 NM_004035.6(ACOX1): c.1406_1408delCAG (p.Ala469del) deletion Uncertain significance rs886053457 GRCh37 Chromosome 17, 73945869: 73945871
74 ACOX1 NM_004035.6(ACOX1): c.1406_1408delCAG (p.Ala469del) deletion Uncertain significance rs886053457 GRCh38 Chromosome 17, 75949788: 75949790
75 ACOX1 NM_004035.6(ACOX1): c.788G> C (p.Gly263Ala) single nucleotide variant Uncertain significance rs377216317 GRCh38 Chromosome 17, 75953607: 75953607
76 ACOX1 NM_004035.6(ACOX1): c.788G> C (p.Gly263Ala) single nucleotide variant Uncertain significance rs377216317 GRCh37 Chromosome 17, 73949688: 73949688
77 ACOX1 NM_004035.6(ACOX1): c.591G> A (p.Gly197=) single nucleotide variant Likely benign rs75808808 GRCh38 Chromosome 17, 75955895: 75955895
78 ACOX1 NM_004035.6(ACOX1): c.591G> A (p.Gly197=) single nucleotide variant Likely benign rs75808808 GRCh37 Chromosome 17, 73951976: 73951976
79 ACOX1 NM_004035.6(ACOX1): c.-186T> A single nucleotide variant Uncertain significance rs543914514 GRCh38 Chromosome 17, 75979259: 75979259
80 ACOX1 NM_004035.6(ACOX1): c.-186T> A single nucleotide variant Uncertain significance rs543914514 GRCh37 Chromosome 17, 73975340: 73975340
81 ACOX1 NM_004035.6(ACOX1): c.*5164A> G single nucleotide variant Benign rs3643 GRCh38 Chromosome 17, 75941584: 75941584
82 ACOX1 NM_004035.6(ACOX1): c.*5164A> G single nucleotide variant Benign rs3643 GRCh37 Chromosome 17, 73937665: 73937665
83 ACOX1 NM_004035.6(ACOX1): c.*5134A> G single nucleotide variant Uncertain significance rs116309575 GRCh38 Chromosome 17, 75941614: 75941614
84 ACOX1 NM_004035.6(ACOX1): c.*5134A> G single nucleotide variant Uncertain significance rs116309575 GRCh37 Chromosome 17, 73937695: 73937695
85 ACOX1 NM_004035.6(ACOX1): c.*5117A> C single nucleotide variant Uncertain significance rs886053430 GRCh38 Chromosome 17, 75941631: 75941631
86 ACOX1 NM_004035.6(ACOX1): c.*5117A> C single nucleotide variant Uncertain significance rs886053430 GRCh37 Chromosome 17, 73937712: 73937712
87 ACOX1 NM_004035.6(ACOX1): c.*4590G> A single nucleotide variant Uncertain significance rs886053432 GRCh38 Chromosome 17, 75942158: 75942158
88 ACOX1 NM_004035.6(ACOX1): c.*4590G> A single nucleotide variant Uncertain significance rs886053432 GRCh37 Chromosome 17, 73938239: 73938239
89 ACOX1 NM_004035.6(ACOX1): c.*4039G> T single nucleotide variant Uncertain significance rs577207820 GRCh37 Chromosome 17, 73938790: 73938790
90 ACOX1 NM_004035.6(ACOX1): c.*4039G> T single nucleotide variant Uncertain significance rs577207820 GRCh38 Chromosome 17, 75942709: 75942709
91 ACOX1 NM_004035.6(ACOX1): c.*3621C> G single nucleotide variant Uncertain significance rs886053438 GRCh37 Chromosome 17, 73939208: 73939208
92 ACOX1 NM_004035.6(ACOX1): c.*3621C> G single nucleotide variant Uncertain significance rs886053438 GRCh38 Chromosome 17, 75943127: 75943127
93 ACOX1 NM_004035.6(ACOX1): c.*3529_*3531dupTTT duplication Uncertain significance rs572895309 GRCh37 Chromosome 17, 73939298: 73939300
94 ACOX1 NM_004035.6(ACOX1): c.*3529_*3531dupTTT duplication Uncertain significance rs572895309 GRCh38 Chromosome 17, 75943217: 75943219
95 ACOX1 NM_004035.6(ACOX1): c.*2736G> A single nucleotide variant Uncertain significance rs563182345 GRCh38 Chromosome 17, 75944012: 75944012
96 ACOX1 NM_004035.6(ACOX1): c.*2736G> A single nucleotide variant Uncertain significance rs563182345 GRCh37 Chromosome 17, 73940093: 73940093
97 ACOX1 NM_004035.6(ACOX1): c.*2625T> C single nucleotide variant Uncertain significance rs570538901 GRCh37 Chromosome 17, 73940204: 73940204
98 ACOX1 NM_004035.6(ACOX1): c.*2625T> C single nucleotide variant Uncertain significance rs570538901 GRCh38 Chromosome 17, 75944123: 75944123
99 ACOX1 NM_004035.6(ACOX1): c.*2239A> T single nucleotide variant Uncertain significance rs886053442 GRCh38 Chromosome 17, 75944509: 75944509
100 ACOX1 NM_004035.6(ACOX1): c.*2239A> T single nucleotide variant Uncertain significance rs886053442 GRCh37 Chromosome 17, 73940590: 73940590
101 ACOX1 NM_004035.6(ACOX1): c.*2212delA deletion Uncertain significance rs886053443 GRCh38 Chromosome 17, 75944536: 75944536
102 ACOX1 NM_004035.6(ACOX1): c.*2212delA deletion Uncertain significance rs886053443 GRCh37 Chromosome 17, 73940617: 73940617
103 ACOX1 NM_004035.6(ACOX1): c.*1977C> T single nucleotide variant Uncertain significance rs141097660 GRCh37 Chromosome 17, 73940852: 73940852
104 ACOX1 NM_004035.6(ACOX1): c.*1977C> T single nucleotide variant Uncertain significance rs141097660 GRCh38 Chromosome 17, 75944771: 75944771
105 ACOX1 NM_004035.6(ACOX1): c.*1813C> T single nucleotide variant Uncertain significance rs144899104 GRCh38 Chromosome 17, 75944935: 75944935
106 ACOX1 NM_004035.6(ACOX1): c.*1813C> T single nucleotide variant Uncertain significance rs144899104 GRCh37 Chromosome 17, 73941016: 73941016
107 ACOX1 NM_004035.6(ACOX1): c.*1023A> C single nucleotide variant Uncertain significance rs886053450 GRCh38 Chromosome 17, 75945725: 75945725
108 ACOX1 NM_004035.6(ACOX1): c.*1023A> C single nucleotide variant Uncertain significance rs886053450 GRCh37 Chromosome 17, 73941806: 73941806
109 ACOX1 NM_004035.6(ACOX1): c.*949_*951delGTT deletion Uncertain significance rs879489092 GRCh37 Chromosome 17, 73941878: 73941880
110 ACOX1 NM_004035.6(ACOX1): c.*949_*951delGTT deletion Uncertain significance rs879489092 GRCh38 Chromosome 17, 75945797: 75945799
111 ACOX1 NM_004035.6(ACOX1): c.*756G> A single nucleotide variant Uncertain significance rs886053452 GRCh37 Chromosome 17, 73942073: 73942073
112 ACOX1 NM_004035.6(ACOX1): c.*756G> A single nucleotide variant Uncertain significance rs886053452 GRCh38 Chromosome 17, 75945992: 75945992
113 ACOX1 NM_004035.6(ACOX1): c.*676G> T single nucleotide variant Uncertain significance rs886053453 GRCh37 Chromosome 17, 73942153: 73942153
114 ACOX1 NM_004035.6(ACOX1): c.*676G> T single nucleotide variant Uncertain significance rs886053453 GRCh38 Chromosome 17, 75946072: 75946072
115 ACOX1 NM_004035.6(ACOX1): c.*474G> A single nucleotide variant Likely benign rs115919790 GRCh37 Chromosome 17, 73942355: 73942355
116 ACOX1 NM_004035.6(ACOX1): c.*474G> A single nucleotide variant Likely benign rs115919790 GRCh38 Chromosome 17, 75946274: 75946274
117 ACOX1 NM_004035.6(ACOX1): c.1068C> T (p.Asn356=) single nucleotide variant Uncertain significance rs374533122 GRCh38 Chromosome 17, 75951454: 75951454
118 ACOX1 NM_004035.6(ACOX1): c.1068C> T (p.Asn356=) single nucleotide variant Uncertain significance rs374533122 GRCh37 Chromosome 17, 73947535: 73947535
119 ACOX1 NM_004035.6(ACOX1): c.867T> C (p.Ala289=) single nucleotide variant Uncertain significance rs370001667 GRCh38 Chromosome 17, 75953528: 75953528
120 ACOX1 NM_004035.6(ACOX1): c.867T> C (p.Ala289=) single nucleotide variant Uncertain significance rs370001667 GRCh37 Chromosome 17, 73949609: 73949609
121 ACOX1 NM_004035.6(ACOX1): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs143260706 GRCh38 Chromosome 17, 75955673: 75955673
122 ACOX1 NM_004035.6(ACOX1): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs143260706 GRCh37 Chromosome 17, 73951754: 73951754
123 ACOX1 NM_004035.6(ACOX1): c.659-4G> A single nucleotide variant Uncertain significance rs746563980 GRCh37 Chromosome 17, 73951766: 73951766
124 ACOX1 NM_004035.6(ACOX1): c.659-4G> A single nucleotide variant Uncertain significance rs746563980 GRCh38 Chromosome 17, 75955685: 75955685
125 ACOX1 NM_004035.6(ACOX1): c.510G> A (p.Val170=) single nucleotide variant Uncertain significance rs752375436 GRCh38 Chromosome 17, 75957487: 75957487
126 ACOX1 NM_004035.6(ACOX1): c.510G> A (p.Val170=) single nucleotide variant Uncertain significance rs752375436 GRCh37 Chromosome 17, 73953568: 73953568
127 ACOX1 NM_004035.6(ACOX1): c.458C> T (p.Thr153Ile) single nucleotide variant Uncertain significance rs17855420 GRCh38 Chromosome 17, 75957539: 75957539
128 ACOX1 NM_004035.6(ACOX1): c.458C> T (p.Thr153Ile) single nucleotide variant Uncertain significance rs17855420 GRCh37 Chromosome 17, 73953620: 73953620
129 ACOX1 NM_004035.6(ACOX1): c.-62_-61dupCG duplication Uncertain significance rs886053459 GRCh38 Chromosome 17, 75979134: 75979135
130 ACOX1 NM_004035.6(ACOX1): c.-62_-61dupCG duplication Uncertain significance rs886053459 GRCh37 Chromosome 17, 73975215: 73975216
131 ACOX1 NM_004035.6(ACOX1): c.-173C> T single nucleotide variant Uncertain significance rs575138461 GRCh38 Chromosome 17, 75979246: 75979246
132 ACOX1 NM_004035.6(ACOX1): c.-173C> T single nucleotide variant Uncertain significance rs575138461 GRCh37 Chromosome 17, 73975327: 73975327
133 ACOX1 NM_004035.6(ACOX1): c.*5000G> T single nucleotide variant Uncertain significance rs778738153 GRCh38 Chromosome 17, 75941748: 75941748
134 ACOX1 NM_004035.6(ACOX1): c.*5000G> T single nucleotide variant Uncertain significance rs778738153 GRCh37 Chromosome 17, 73937829: 73937829
135 ACOX1 NM_004035.6(ACOX1): c.*4579C> T single nucleotide variant Uncertain significance rs886053433 GRCh38 Chromosome 17, 75942169: 75942169
136 ACOX1 NM_004035.6(ACOX1): c.*4579C> T single nucleotide variant Uncertain significance rs886053433 GRCh37 Chromosome 17, 73938250: 73938250
137 ACOX1 NM_004035.6(ACOX1): c.*4490A> G single nucleotide variant Likely benign rs7212287 GRCh38 Chromosome 17, 75942258: 75942258
138 ACOX1 NM_004035.6(ACOX1): c.*4490A> G single nucleotide variant Likely benign rs7212287 GRCh37 Chromosome 17, 73938339: 73938339
139 ACOX1 NM_004035.6(ACOX1): c.*4444G> A single nucleotide variant Likely benign rs7207656 GRCh38 Chromosome 17, 75942304: 75942304
140 ACOX1 NM_004035.6(ACOX1): c.*4444G> A single nucleotide variant Likely benign rs7207656 GRCh37 Chromosome 17, 73938385: 73938385
141 ACOX1 NM_004035.6(ACOX1): c.*4440C> T single nucleotide variant Uncertain significance rs886053434 GRCh37 Chromosome 17, 73938389: 73938389
142 ACOX1 NM_004035.6(ACOX1): c.*4440C> T single nucleotide variant Uncertain significance rs886053434 GRCh38 Chromosome 17, 75942308: 75942308
143 ACOX1 NM_004035.6(ACOX1): c.*4317_*4318dupTT duplication Uncertain significance rs886053436 GRCh37 Chromosome 17, 73938511: 73938512
144 ACOX1 NM_004035.6(ACOX1): c.*4317_*4318dupTT duplication Uncertain significance rs886053436 GRCh38 Chromosome 17, 75942430: 75942431
145 ACOX1 NM_004035.6(ACOX1): c.*4296C> A single nucleotide variant Likely benign rs79900384 GRCh37 Chromosome 17, 73938533: 73938533
146 ACOX1 NM_004035.6(ACOX1): c.*4296C> A single nucleotide variant Likely benign rs79900384 GRCh38 Chromosome 17, 75942452: 75942452
147 ACOX1 NM_004035.6(ACOX1): c.*4296delC deletion Uncertain significance rs374686428 GRCh37 Chromosome 17, 73938533: 73938533
148 ACOX1 NM_004035.6(ACOX1): c.*4296delC deletion Uncertain significance rs374686428 GRCh38 Chromosome 17, 75942452: 75942452
149 ACOX1 NM_004035.6(ACOX1): c.*4250T> G single nucleotide variant Uncertain significance rs112541815 GRCh37 Chromosome 17, 73938579: 73938579
150 ACOX1 NM_004035.6(ACOX1): c.*4250T> G single nucleotide variant Uncertain significance rs112541815 GRCh38 Chromosome 17, 75942498: 75942498
151 ACOX1 NM_004035.6(ACOX1): c.*3872G> A single nucleotide variant Benign rs2608880 GRCh37 Chromosome 17, 73938957: 73938957
152 ACOX1 NM_004035.6(ACOX1): c.*3872G> A single nucleotide variant Benign rs2608880 GRCh38 Chromosome 17, 75942876: 75942876
153 ACOX1 NM_004035.6(ACOX1): c.*2969A> G single nucleotide variant Uncertain significance rs186334014 GRCh37 Chromosome 17, 73939860: 73939860
154 ACOX1 NM_004035.6(ACOX1): c.*2969A> G single nucleotide variant Uncertain significance rs186334014 GRCh38 Chromosome 17, 75943779: 75943779
155 ACOX1 NM_004035.6(ACOX1): c.*1809A> G single nucleotide variant Uncertain significance rs548325591 GRCh38 Chromosome 17, 75944939: 75944939
156 ACOX1 NM_004035.6(ACOX1): c.*1809A> G single nucleotide variant Uncertain significance rs548325591 GRCh37 Chromosome 17, 73941020: 73941020
157 ACOX1 NM_004035.6(ACOX1): c.*1782dupT duplication Uncertain significance rs886053445 GRCh38 Chromosome 17, 75944966: 75944966
158 ACOX1 NM_004035.6(ACOX1): c.*1782dupT duplication Uncertain significance rs886053445 GRCh37 Chromosome 17, 73941047: 73941047
159 ACOX1 NM_004035.6(ACOX1): c.*1434C> T single nucleotide variant Uncertain significance rs886053446 GRCh38 Chromosome 17, 75945314: 75945314
160 ACOX1 NM_004035.6(ACOX1): c.*1434C> T single nucleotide variant Uncertain significance rs886053446 GRCh37 Chromosome 17, 73941395: 73941395
161 ACOX1 NM_004035.6(ACOX1): c.*932T> C single nucleotide variant Uncertain significance rs762398053 GRCh37 Chromosome 17, 73941897: 73941897
162 ACOX1 NM_004035.6(ACOX1): c.*932T> C single nucleotide variant Uncertain significance rs762398053 GRCh38 Chromosome 17, 75945816: 75945816
163 ACOX1 NM_004035.6(ACOX1): c.*874C> T single nucleotide variant Likely benign rs12430 GRCh37 Chromosome 17, 73941955: 73941955
164 ACOX1 NM_004035.6(ACOX1): c.*874C> T single nucleotide variant Likely benign rs12430 GRCh38 Chromosome 17, 75945874: 75945874
165 ACOX1 NM_004035.6(ACOX1): c.*720C> T single nucleotide variant Uncertain significance rs531041128 GRCh37 Chromosome 17, 73942109: 73942109
166 ACOX1 NM_004035.6(ACOX1): c.*720C> T single nucleotide variant Uncertain significance rs531041128 GRCh38 Chromosome 17, 75946028: 75946028
167 ACOX1 NM_004035.6(ACOX1): c.*679T> C single nucleotide variant Benign rs3682 GRCh37 Chromosome 17, 73942150: 73942150
168 ACOX1 NM_004035.6(ACOX1): c.*679T> C single nucleotide variant Benign rs3682 GRCh38 Chromosome 17, 75946069: 75946069
169 ACOX1 NM_004035.6(ACOX1): c.*660A> C single nucleotide variant Uncertain significance rs886053454 GRCh37 Chromosome 17, 73942169: 73942169
170 ACOX1 NM_004035.6(ACOX1): c.*660A> C single nucleotide variant Uncertain significance rs886053454 GRCh38 Chromosome 17, 75946088: 75946088
171 ACOX1 NM_004035.6(ACOX1): c.*481G> A single nucleotide variant Uncertain significance rs191031491 GRCh37 Chromosome 17, 73942348: 73942348
172 ACOX1 NM_004035.6(ACOX1): c.*481G> A single nucleotide variant Uncertain significance rs191031491 GRCh38 Chromosome 17, 75946267: 75946267
173 ACOX1 NM_004035.6(ACOX1): c.1866C> A (p.Gly622=) single nucleotide variant Uncertain significance rs886053456 GRCh37 Chromosome 17, 73944401: 73944401
174 ACOX1 NM_004035.6(ACOX1): c.1866C> A (p.Gly622=) single nucleotide variant Uncertain significance rs886053456 GRCh38 Chromosome 17, 75948320: 75948320
175 ACOX1 NM_004035.6(ACOX1): c.1561G> T (p.Val521Phe) single nucleotide variant Uncertain significance rs775115439 GRCh37 Chromosome 17, 73945599: 73945599
176 ACOX1 NM_004035.6(ACOX1): c.1561G> T (p.Val521Phe) single nucleotide variant Uncertain significance rs775115439 GRCh38 Chromosome 17, 75949518: 75949518
177 ACOX1 NM_004035.6(ACOX1): c.1344G> A (p.Val448=) single nucleotide variant Uncertain significance rs753969664 GRCh38 Chromosome 17, 75949852: 75949852
178 ACOX1 NM_004035.6(ACOX1): c.1344G> A (p.Val448=) single nucleotide variant Uncertain significance rs753969664 GRCh37 Chromosome 17, 73945933: 73945933
179 ACOX1 NM_004035.6(ACOX1): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs16968343 GRCh38 Chromosome 17, 75951568: 75951568
180 ACOX1 NM_004035.6(ACOX1): c.954A> G (p.Glu318=) single nucleotide variant Uncertain significance rs16968343 GRCh37 Chromosome 17, 73947649: 73947649
181 ACOX1 NM_004035.6(ACOX1): c.871C> T (p.Arg291Trp) single nucleotide variant Uncertain significance rs778134359 GRCh38 Chromosome 17, 75953524: 75953524
182 ACOX1 NM_004035.6(ACOX1): c.871C> T (p.Arg291Trp) single nucleotide variant Uncertain significance rs778134359 GRCh37 Chromosome 17, 73949605: 73949605
183 ACOX1 NM_004035.6(ACOX1): c.658+4A> G single nucleotide variant Uncertain significance rs886053458 GRCh38 Chromosome 17, 75955824: 75955824
184 ACOX1 NM_004035.6(ACOX1): c.658+4A> G single nucleotide variant Uncertain significance rs886053458 GRCh37 Chromosome 17, 73951905: 73951905
185 ACOX1 NM_004035.6(ACOX1): c.-105C> G single nucleotide variant Uncertain significance rs886053460 GRCh38 Chromosome 17, 75979178: 75979178
186 ACOX1 NM_004035.6(ACOX1): c.-105C> G single nucleotide variant Uncertain significance rs886053460 GRCh37 Chromosome 17, 73975259: 73975259
187 ACOX1 NM_004035.6(ACOX1): c.-317G> A single nucleotide variant Likely benign rs3760132 GRCh38 Chromosome 17, 75979390: 75979390
188 ACOX1 NM_004035.6(ACOX1): c.-317G> A single nucleotide variant Likely benign rs3760132 GRCh37 Chromosome 17, 73975471: 73975471
189 ACOX1 NM_004035.6(ACOX1): c.*5092A> G single nucleotide variant Uncertain significance rs371782179 GRCh38 Chromosome 17, 75941656: 75941656
190 ACOX1 NM_004035.6(ACOX1): c.*5092A> G single nucleotide variant Uncertain significance rs371782179 GRCh37 Chromosome 17, 73937737: 73937737
191 ACOX1 NM_004035.6(ACOX1): c.*4876C> T single nucleotide variant Uncertain significance rs886053431 GRCh38 Chromosome 17, 75941872: 75941872
192 ACOX1 NM_004035.6(ACOX1): c.*4876C> T single nucleotide variant Uncertain significance rs886053431 GRCh37 Chromosome 17, 73937953: 73937953
193 ACOX1 NM_004035.6(ACOX1): c.*4831_*4832delAT deletion Uncertain significance rs139840183 GRCh38 Chromosome 17, 75941916: 75941917
194 ACOX1 NM_004035.6(ACOX1): c.*4831_*4832delAT deletion Uncertain significance rs139840183 GRCh37 Chromosome 17, 73937997: 73937998
195 ACOX1 NM_004035.6(ACOX1): c.*4551C> T single nucleotide variant Uncertain significance rs139936850 GRCh38 Chromosome 17, 75942197: 75942197
196 ACOX1 NM_004035.6(ACOX1): c.*4551C> T single nucleotide variant Uncertain significance rs139936850 GRCh37 Chromosome 17, 73938278: 73938278
197 ACOX1 NM_004035.6(ACOX1): c.*4472dupT duplication Likely benign rs59512794 GRCh38 Chromosome 17, 75942276: 75942276
198 ACOX1 NM_004035.6(ACOX1): c.*4472dupT duplication Likely benign rs59512794 GRCh37 Chromosome 17, 73938357: 73938357
199 ACOX1 NM_004035.6(ACOX1): c.*4346G> C single nucleotide variant Uncertain significance rs886053435 GRCh37 Chromosome 17, 73938483: 73938483
200 ACOX1 NM_004035.6(ACOX1): c.*4346G> C single nucleotide variant Uncertain significance rs886053435 GRCh38 Chromosome 17, 75942402: 75942402
201 ACOX1 NM_004035.6(ACOX1): c.*4259C> T single nucleotide variant Uncertain significance rs150647165 GRCh37 Chromosome 17, 73938570: 73938570
202 ACOX1 NM_004035.6(ACOX1): c.*4259C> T single nucleotide variant Uncertain significance rs150647165 GRCh38 Chromosome 17, 75942489: 75942489
203 ACOX1 NM_004035.6(ACOX1): c.*3533delA deletion Uncertain significance rs886053439 GRCh37 Chromosome 17, 73939296: 73939296
204 ACOX1 NM_004035.6(ACOX1): c.*3533delA deletion Uncertain significance rs886053439 GRCh38 Chromosome 17, 75943215: 75943215
205 ACOX1 NM_004035.6(ACOX1): c.*2875C> T single nucleotide variant Uncertain significance rs150295638 GRCh37 Chromosome 17, 73939954: 73939954
206 ACOX1 NM_004035.6(ACOX1): c.*2875C> T single nucleotide variant Uncertain significance rs150295638 GRCh38 Chromosome 17, 75943873: 75943873
207 ACOX1 NM_004035.6(ACOX1): c.*2644G> A single nucleotide variant Uncertain significance rs566241535 GRCh38 Chromosome 17, 75944104: 75944104
208 ACOX1 NM_004035.6(ACOX1): c.*2644G> A single nucleotide variant Uncertain significance rs566241535 GRCh37 Chromosome 17, 73940185: 73940185
209 ACOX1 NM_004035.6(ACOX1): c.*1938C> T single nucleotide variant Uncertain significance rs886053444 GRCh38 Chromosome 17, 75944810: 75944810
210 ACOX1 NM_004035.6(ACOX1): c.*1938C> T single nucleotide variant Uncertain significance rs886053444 GRCh37 Chromosome 17, 73940891: 73940891
211 ACOX1 NM_004035.6(ACOX1): c.*1431A> G single nucleotide variant Uncertain significance rs138647867 GRCh38 Chromosome 17, 75945317: 75945317
212 ACOX1 NM_004035.6(ACOX1): c.*1431A> G single nucleotide variant Uncertain significance rs138647867 GRCh37 Chromosome 17, 73941398: 73941398
213 ACOX1 NM_004035.6(ACOX1): c.*1380T> C single nucleotide variant Uncertain significance rs886053447 GRCh38 Chromosome 17, 75945368: 75945368
214 ACOX1 NM_004035.6(ACOX1): c.*1380T> C single nucleotide variant Uncertain significance rs886053447 GRCh37 Chromosome 17, 73941449: 73941449
215 ACOX1 NM_004035.6(ACOX1): c.*1126A> G single nucleotide variant Uncertain significance rs545439135 GRCh38 Chromosome 17, 75945622: 75945622
216 ACOX1 NM_004035.6(ACOX1): c.*1126A> G single nucleotide variant Uncertain significance rs545439135 GRCh37 Chromosome 17, 73941703: 73941703
217 ACOX1 NM_004035.6(ACOX1): c.*1034T> G single nucleotide variant Uncertain significance rs886053449 GRCh38 Chromosome 17, 75945714: 75945714
218 ACOX1 NM_004035.6(ACOX1): c.*1034T> G single nucleotide variant Uncertain significance rs886053449 GRCh37 Chromosome 17, 73941795: 73941795
219 ACOX1 NM_004035.6(ACOX1): c.*1021C> A single nucleotide variant Uncertain significance rs867741007 GRCh38 Chromosome 17, 75945727: 75945727
220 ACOX1 NM_004035.6(ACOX1): c.*1021C> A single nucleotide variant Uncertain significance rs867741007 GRCh37 Chromosome 17, 73941808: 73941808
221 ACOX1 NM_004035.6(ACOX1): c.*765G> A single nucleotide variant Uncertain significance rs886053451 GRCh37 Chromosome 17, 73942064: 73942064
222 ACOX1 NM_004035.6(ACOX1): c.*765G> A single nucleotide variant Uncertain significance rs886053451 GRCh38 Chromosome 17, 75945983: 75945983
223 ACOX1 NM_004035.6(ACOX1): c.*654A> G single nucleotide variant Uncertain significance rs1057921 GRCh37 Chromosome 17, 73942175: 73942175
224 ACOX1 NM_004035.6(ACOX1): c.*654A> G single nucleotide variant Uncertain significance rs1057921 GRCh38 Chromosome 17, 75946094: 75946094
225 ACOX1 NM_004035.6(ACOX1): c.*633G> C single nucleotide variant Likely benign rs71382188 GRCh37 Chromosome 17, 73942196: 73942196
226 ACOX1 NM_004035.6(ACOX1): c.*633G> C single nucleotide variant Likely benign rs71382188 GRCh38 Chromosome 17, 75946115: 75946115
227 ACOX1 NM_004035.6(ACOX1): c.*478T> C single nucleotide variant Uncertain significance rs886053455 GRCh37 Chromosome 17, 73942351: 73942351
228 ACOX1 NM_004035.6(ACOX1): c.*478T> C single nucleotide variant Uncertain significance rs886053455 GRCh38 Chromosome 17, 75946270: 75946270
229 ACOX1 NM_004035.6(ACOX1): c.1821T> C (p.Val607=) single nucleotide variant Uncertain significance rs762221413 GRCh37 Chromosome 17, 73944446: 73944446
230 ACOX1 NM_004035.6(ACOX1): c.1821T> C (p.Val607=) single nucleotide variant Uncertain significance rs762221413 GRCh38 Chromosome 17, 75948365: 75948365
231 ACOX1 NM_004035.6(ACOX1): c.1541T> C (p.Val514Ala) single nucleotide variant Uncertain significance rs776575018 GRCh38 Chromosome 17, 75949538: 75949538
232 ACOX1 NM_004035.6(ACOX1): c.1541T> C (p.Val514Ala) single nucleotide variant Uncertain significance rs776575018 GRCh37 Chromosome 17, 73945619: 73945619
233 ACOX1 NM_004035.6(ACOX1): c.1368C> T (p.Asn456=) single nucleotide variant Uncertain significance rs151255626 GRCh38 Chromosome 17, 75949828: 75949828
234 ACOX1 NM_004035.6(ACOX1): c.1368C> T (p.Asn456=) single nucleotide variant Uncertain significance rs151255626 GRCh37 Chromosome 17, 73945909: 73945909
235 ACOX1 NM_004035.6(ACOX1): c.912C> T (p.Ser304=) single nucleotide variant Uncertain significance rs144826451 GRCh38 Chromosome 17, 75953483: 75953483
236 ACOX1 NM_004035.6(ACOX1): c.912C> T (p.Ser304=) single nucleotide variant Uncertain significance rs144826451 GRCh37 Chromosome 17, 73949564: 73949564

Expression for Peroxisomal Acyl-Coa Oxidase Deficiency

Search GEO for disease gene expression data for Peroxisomal Acyl-Coa Oxidase Deficiency.

Pathways for Peroxisomal Acyl-Coa Oxidase Deficiency

Pathways related to Peroxisomal Acyl-Coa Oxidase Deficiency according to KEGG:

37 (showing 3, show less)
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Peroxisome hsa04146
3 PPAR signaling pathway hsa03320

GO Terms for Peroxisomal Acyl-Coa Oxidase Deficiency

Cellular components related to Peroxisomal Acyl-Coa Oxidase Deficiency according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACOX1 AGXT CAT HSD17B4 PEX5 SCP2
2 intracellular membrane-bounded organelle GO:0043231 9.62 ACOX1 AGXT CAT SCP2
3 peroxisomal membrane GO:0005778 9.46 ACOX1 CAT HSD17B4 PEX5
4 peroxisomal matrix GO:0005782 9.35 ACOX1 AGXT CAT HSD17B4 SCP2
5 peroxisome GO:0005777 9.1 ACOX1 AGXT CAT HSD17B4 PEX5 SCP2

Biological processes related to Peroxisomal Acyl-Coa Oxidase Deficiency according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 ACOX1 APOC3 HSD17B4 PPARA
2 osteoblast differentiation GO:0001649 9.51 CAT HSD17B4
3 fatty acid metabolic process GO:0006631 9.5 ACOX1 HSD17B4 PPARA
4 regulation of lipid metabolic process GO:0019216 9.49 ACOX1 PPARA
5 response to insulin GO:0032868 9.48 CAT PPARA
6 triglyceride metabolic process GO:0006641 9.46 APOC3 CAT
7 bile acid biosynthetic process GO:0006699 9.43 HSD17B4 SCP2
8 lipoprotein metabolic process GO:0042157 9.4 APOC3 PPARA
9 peroxisome organization GO:0007031 9.37 PEX5 SCP2
10 fatty acid beta-oxidation GO:0006635 9.33 ACOX1 HSD17B4 PEX5
11 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.13 ACOX1 HSD17B4 SCP2
12 alpha-linolenic acid metabolic process GO:0036109 8.8 ACOX1 HSD17B4 SCP2

Molecular functions related to Peroxisomal Acyl-Coa Oxidase Deficiency according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.33 APOC3 PPARA SCP2
2 protein N-terminus binding GO:0047485 9.26 ACOX1 PEX5
3 signaling receptor binding GO:0005102 9.02 ACOX1 AGXT CAT HSD17B4 SCP2
4 cholesterol binding GO:0015485 8.96 APOC3 SCP2

Sources for Peroxisomal Acyl-Coa Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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