PSEUDO-NALD
MCID: PRX028
MIFTS: 52

Peroxisomal Acyl-Coa Oxidase Deficiency (PSEUDO-NALD)

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

Aliases & Classifications for Peroxisomal Acyl-Coa Oxidase Deficiency

MalaCards integrated aliases for Peroxisomal Acyl-Coa Oxidase Deficiency:

Name: Peroxisomal Acyl-Coa Oxidase Deficiency 58 12 54 26 60 76 38 13 45 15 74
Pseudoneonatal Adrenoleukodystrophy 58 54 26 30 6
Straight-Chain Acyl-Coa Oxidase Deficiency 58 54 26
Pseudoadrenoleukodystrophy 54 26 60
Pseudo-Nald 26 60 76
Pseudo-Neonatal Adrenoleukodystrophy 54 60
Deficiency, Peroxisomal Acyl-Coa Oxidase 41
Adrenoleukodystrophy, Pseudoneonatal 76
Peroxisomal Acyl-Coenzyme a Oxidase 12
Acyl-Coenzyme a Oxidase Deficiency 26
Acyl-Coa Oxidase Deficiency 74

Characteristics:

Orphanet epidemiological data:

60
peroxisomal acyl-coa oxidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 54 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 neonatal 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 Fludarabine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related phenotypes are seizures and muscular hypotonia

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

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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.

Wikipedia : 77 Acyl-CoA oxidase]] deficiency (ACOX1 deficiency) is a rare disorder that leads to significant damage and... more...

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

Human phenotypes related to Peroxisomal Acyl-Coa Oxidase Deficiency:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
4 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
5 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
6 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
7 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
8 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
9 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
10 abnormality of visual evoked potentials 60 33 hallmark (90%) Very frequent (99-80%) HP:0000649
11 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
12 abnormality of metabolism/homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001939
13 abnormality of nervous system morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0012639
14 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
15 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
16 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
17 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
18 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
19 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
20 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
21 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
22 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
23 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
24 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
25 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
26 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
27 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
28 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
29 frontal bossing 33 HP:0002007
30 dysphagia 33 HP:0002015
31 wide nasal bridge 33 HP:0000431
32 neonatal hypotonia 33 HP:0001319
33 brachycephaly 33 HP:0000248
34 irritability 33 HP:0000737
35 death in infancy 60 Frequent (79-30%)
36 severe global developmental delay 33 HP:0011344
37 inverted nipples 33 HP:0003186
38 babinski sign 33 HP:0003487
39 dystonia 33 HP:0001332
40 intellectual disability, progressive 33 HP:0006887
41 rod-cone dystrophy 33 HP:0000510
42 leukodystrophy 33 HP:0002415
43 diffuse hepatic steatosis 33 HP:0006555
44 pigmentary retinopathy 33 HP:0000580
45 bilateral sensorineural hearing impairment 33 HP:0008619
46 cns demyelination 33 HP:0007305
47 no social interaction 33 HP:0008763
48 elevated hepatic transaminase 33 HP:0002910
49 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Peroxisomal Acyl-Coa Oxidase Deficiency:


seizures, abnormal pyramidal signs

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 ACOX1 HSD17B4 LEP PPARA PRODH SCP2
2 liver/biliary system MP:0005370 9.35 ACOX1 HSD17B4 LEP PPARA SCP2
3 pigmentation MP:0001186 8.8 LEP PRODH SPAG9

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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
2
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
rituximab Approved Phase 2 174722-31-7 10201696
6
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Tocotrienol Investigational Phase 2 6829-55-6
11 N-monoacetylcystine Phase 2
12 Tocopherols Phase 2
13 Alpha-lipoic Acid Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Antimetabolites Phase 2
16 Immunosuppressive Agents Phase 2
17 Vitamins Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Immunologic Factors Phase 2
20 Tocotrienols Phase 2
21 Alkylating Agents Phase 2
22 Antilymphocyte Serum Phase 2
23 Thioctic Acid Phase 2

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 30 ACOX1

Anatomical Context for Peroxisomal Acyl-Coa Oxidase Deficiency

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

42
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:

76
# 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 244)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACOX1 NM_004035.6(ACOX1): c.1851delT (p.Gly618Alafs) deletion Likely pathogenic rs797045080 GRCh38 Chromosome 17, 75948335: 75948335
2 ACOX1 NM_004035.6(ACOX1): c.1851delT (p.Gly618Alafs) deletion Likely pathogenic rs797045080 GRCh37 Chromosome 17, 73944416: 73944416
3 ACOX1 NM_004035.6(ACOX1): c.176G> C (p.Arg59Pro) single nucleotide variant Likely pathogenic rs777937235 GRCh38 Chromosome 17, 75978627: 75978627
4 ACOX1 NM_004035.6(ACOX1): c.176G> C (p.Arg59Pro) single nucleotide variant Likely pathogenic rs777937235 GRCh37 Chromosome 17, 73974708: 73974708
5 ACOX1 nsv513791 deletion Pathogenic
6 ACOX1 NM_004035.6(ACOX1): c.832A> G (p.Met278Val) single nucleotide variant Pathogenic rs118204090 GRCh37 Chromosome 17, 73949644: 73949644
7 ACOX1 NM_004035.6(ACOX1): c.832A> G (p.Met278Val) single nucleotide variant Pathogenic rs118204090 GRCh38 Chromosome 17, 75953563: 75953563
8 ACOX1 NM_004035.6(ACOX1): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs118204091 GRCh37 Chromosome 17, 73953546: 73953546
9 ACOX1 NM_004035.6(ACOX1): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs118204091 GRCh38 Chromosome 17, 75957465: 75957465
10 ACOX1 NM_004035.6(ACOX1): c.926A> G (p.Gln309Arg) single nucleotide variant Pathogenic rs118204092 GRCh37 Chromosome 17, 73949550: 73949550
11 ACOX1 NM_004035.6(ACOX1): c.926A> G (p.Gln309Arg) single nucleotide variant Pathogenic rs118204092 GRCh38 Chromosome 17, 75953469: 75953469
12 ACOX1 NM_004035.6(ACOX1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs118204093 GRCh37 Chromosome 17, 73953636: 73953636
13 ACOX1 NM_004035.6(ACOX1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs118204093 GRCh38 Chromosome 17, 75957555: 75957555
14 ACOX1 NM_004035.6(ACOX1): c.372_389del18 (p.Phe124_Asn129del) deletion Pathogenic rs387906248 GRCh37 Chromosome 17, 73956337: 73956354
15 ACOX1 NM_004035.6(ACOX1): c.372_389del18 (p.Phe124_Asn129del) deletion Pathogenic rs387906248 GRCh38 Chromosome 17, 75960256: 75960273
16 ACOX1 nsv513790 deletion Pathogenic
17 ACOX1 NM_004035.6(ACOX1): c.80C> T (p.Pro27Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145082938 GRCh37 Chromosome 17, 73975075: 73975075
18 ACOX1 NM_004035.6(ACOX1): c.80C> T (p.Pro27Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145082938 GRCh38 Chromosome 17, 75978994: 75978994
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 Conflicting interpretations of pathogenicity rs79677613 GRCh38 Chromosome 17, 75953474: 75953474
26 ACOX1 NM_004035.6(ACOX1): c.921G> A (p.Arg307=) single nucleotide variant Conflicting interpretations of pathogenicity 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.*3988A> T single nucleotide variant Uncertain significance rs149774605 GRCh37 Chromosome 17, 73938841: 73938841
36 ACOX1 NM_004035.6(ACOX1): c.*4021C> T single nucleotide variant Uncertain significance rs536938567 GRCh37 Chromosome 17, 73938808: 73938808
37 ACOX1 NM_004035.6(ACOX1): c.*4021C> T single nucleotide variant Uncertain significance rs536938567 GRCh38 Chromosome 17, 75942727: 75942727
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:

38
# 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 peroxisomal membrane GO:0005778 9.16 ACOX1 HSD17B4
2 peroxisome GO:0005777 9.13 ACOX1 HSD17B4 SCP2
3 peroxisomal matrix GO:0005782 8.8 ACOX1 HSD17B4 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 fatty acid metabolic process GO:0006631 9.61 ACOX1 HSD17B4 PPARA
2 lipid metabolic process GO:0006629 9.55 ACOX1 APOC3 HSD17B4 LEP PPARA
3 regulation of lipid metabolic process GO:0019216 9.51 ACOX1 PPARA
4 protein targeting to peroxisome GO:0006625 9.5 ACOX1 HSD17B4 SCP2
5 response to insulin GO:0032868 9.49 LEP PPARA
6 bile acid biosynthetic process GO:0006699 9.48 HSD17B4 SCP2
7 lipoprotein metabolic process GO:0042157 9.46 APOC3 PPARA
8 fatty acid beta-oxidation GO:0006635 9.43 ACOX1 HSD17B4 LEP
9 very long-chain fatty acid metabolic process GO:0000038 9.4 ACOX1 HSD17B4
10 negative regulation of appetite GO:0032099 9.37 LEP PPARA
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 9.5 APOC3 PPARA SCP2
2 cholesterol binding GO:0015485 9.26 APOC3 SCP2
3 FAD binding GO:0071949 9.16 ACOX1 PRODH
4 fatty acid binding GO:0005504 8.96 ACOX1 PPARA
5 signaling receptor binding GO:0005102 8.92 ACOX1 HSD17B4 LEP SCP2

Sources for Peroxisomal Acyl-Coa Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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