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 (show all 49)
# 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
# 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):

(show all 22)
# 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:


# 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:

# 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
# 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
(show top 50) (show all 236)
# 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

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
# 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:

# 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:

(show all 12)
# 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:

# 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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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