PSEUDO-NALD
MCID: PRX028
MIFTS: 46

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 57 12 20 43 58 72 36 29 13 6 44 15 70
Straight-Chain Acyl-Coa Oxidase Deficiency 57 20 43
Pseudoneonatal Adrenoleukodystrophy 57 20 43
Pseudoadrenoleukodystrophy 20 43 58
Pseudo-Nald 43 58 72
Pseudo-Neonatal Adrenoleukodystrophy 20 58
Deficiency, Peroxisomal Acyl-Coa Oxidase 39
Adrenoleukodystrophy, Pseudoneonatal 72
Peroxisomal Acyl-Coenzyme a Oxidase 12
Acyl-Coenzyme a Oxidase Deficiency 43
Acyl-Coa Oxidase Deficiency 70

Characteristics:

Orphanet epidemiological data:

58
peroxisomal acyl-coa oxidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
peroxisomal acyl-coa oxidase deficiency:
Onset and clinical course death in infancy infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Peroxisomal Acyl-Coa Oxidase Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2971 Definition Peroxisomal 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. Epidemiology Acyl-CoA oxidase deficiency is a rare disease with only 30-40 patients identified world-wide so far. Clinical description The 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. Etiology Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene (17q25.1) encoding peroxisomal straight-chain acyl-CoA oxidase. Diagnostic methods Diagnosis 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 diagnosis Differential 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 diagnosis Antenatal diagnosis is possible through biochemical and/or molecular analysis of amniocytes or chorionic villus cells. Genetic counseling Transmission is autosomal recessive. Genetic counseling should be offered to the families of patients. Management and treatment No specific treatment is available. Multidisciplinary supportive care should be offered. Prognosis Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues.

MalaCards based summary : Peroxisomal Acyl-Coa Oxidase Deficiency, also known as straight-chain acyl-coa oxidase deficiency, 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 Biosynthesis of unsaturated fatty acids. Affiliated tissues include liver and brain, and related phenotypes are hyperreflexia and neurological speech impairment

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

MedlinePlus Genetics : 43 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.Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.

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) (Updated 20-May-2021)

KEGG : 36 Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.

UniProtKB/Swiss-Prot : 72 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 : 73 Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of... 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:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
8 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
9 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
10 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
12 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
13 seizure 31 hallmark (90%) HP:0001250
14 hypotonia 31 hallmark (90%) HP:0001252
15 abnormal nervous system morphology 31 hallmark (90%) HP:0012639
16 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
17 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
18 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
19 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
20 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
21 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
22 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
23 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
24 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
25 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
26 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
27 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
28 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
29 seizures 58 Very frequent (99-80%)
30 frontal bossing 31 HP:0002007
31 dysphagia 31 HP:0002015
32 muscular hypotonia 58 Very frequent (99-80%)
33 wide nasal bridge 31 HP:0000431
34 neonatal hypotonia 31 HP:0001319
35 brachycephaly 31 HP:0000248
36 elevated hepatic transaminase 31 HP:0002910
37 inverted nipples 31 HP:0003186
38 irritability 31 HP:0000737
39 intellectual disability, progressive 31 HP:0006887
40 death in infancy 58 Frequent (79-30%)
41 abnormality of nervous system morphology 58 Very frequent (99-80%)
42 dystonia 31 HP:0001332
43 severe global developmental delay 31 HP:0011344
44 rod-cone dystrophy 31 HP:0000510
45 babinski sign 31 HP:0003487
46 leukodystrophy 31 HP:0002415
47 pigmentary retinopathy 31 HP:0000580
48 bilateral sensorineural hearing impairment 31 HP:0008619
49 no social interaction 31 HP:0008763
50 cns demyelination 31 HP:0007305

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dystonia
leukodystrophy
extensor plantar responses
mental retardation, severe
more
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
pigmentary retinopathy
tapetoretinal degeneration
more
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

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

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

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
brachycephaly

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 (Updated 20-May-2021)

UMLS symptoms related to Peroxisomal Acyl-Coa Oxidase Deficiency:


seizures; abnormal pyramidal signs

Drugs & Therapeutics for Peroxisomal Acyl-Coa Oxidase Deficiency

Search Clinical Trials , 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 Peroxisomal Acyl-Coa Oxidase Deficiency 29 ACOX1

Anatomical Context for Peroxisomal Acyl-Coa Oxidase Deficiency

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

40
Liver, Brain

Publications for Peroxisomal Acyl-Coa Oxidase Deficiency

Articles related to Peroxisomal Acyl-Coa Oxidase Deficiency:

(show all 17)
# Title Authors PMID Year
1
Peroxisomal acyl-CoA-oxidase deficiency: two new cases. 6 61 57
18536048 2008
2
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. 61 57 6
17458872 2007
3
Peroxisomal acyl CoA oxidase deficiency. 61 57 6
11815777 2002
4
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. 61 6 57
8040306 1994
5
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. 61 6 57
8279468 1994
6
Early white matter involvement in an infant carrying a novel mutation in ACOX1. 6 57
26965209 2016
7
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). 57 6
2894756 1988
8
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. 57 61
15065573 2004
9
Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. 57
7668838 1995
10
First prenatal diagnosis of acyl-CoA oxidase deficiency. 57
2122103 1990
11
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. 61
33234382 2021
12
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect. 61
16773508 2006
13
[Peroxisomal acyl-CoA oxidase deficiency]. 61
9645072 1998
14
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase. 61
1779614 1991
15
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. 61
2463966 1989
16
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. 61
3386829 1988
17
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies. 61
3440444 1987

Variations for Peroxisomal Acyl-Coa Oxidase Deficiency

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

6 (show top 50) (show all 231)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACOX1 nsv513791 Deletion Pathogenic 1498 GRCh37:
GRCh38:
2 ACOX1 NM_004035.7(ACOX1):c.832A>G (p.Met278Val) SNV Pathogenic 1499 rs118204090 GRCh37: 17:73949644-73949644
GRCh38: 17:75953563-75953563
3 ACOX1 NM_004035.7(ACOX1):c.532G>T (p.Gly178Cys) SNV Pathogenic 1500 rs118204091 GRCh37: 17:73953546-73953546
GRCh38: 17:75957465-75957465
4 ACOX1 NM_004035.7(ACOX1):c.926A>G (p.Gln309Arg) SNV Pathogenic 1501 rs118204092 GRCh37: 17:73949550-73949550
GRCh38: 17:75953469-75953469
5 ACOX1 NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter) SNV Pathogenic 1502 rs118204093 GRCh37: 17:73953636-73953636
GRCh38: 17:75957555-75957555
6 ACOX1 nsv513790 Deletion Pathogenic 1504 GRCh37:
GRCh38:
7 ACOX1 NM_004035.7(ACOX1):c.139del (p.Gln47fs) Deletion Pathogenic 578920 rs1567892272 GRCh37: 17:73974745-73974745
GRCh38: 17:75978664-75978664
8 ACOX1 NC_000017.11:g.(?_75973605)_(75979093_?)del Deletion Pathogenic 583563 GRCh37: 17:73969686-73975174
GRCh38: 17:75973605-75979093
9 ACOX1 NM_004035.7(ACOX1):c.1717del (p.Asp573fs) Deletion Pathogenic 656515 rs1292759098 GRCh37: 17:73945309-73945309
GRCh38: 17:75949228-75949228
10 ACOX1 NM_004035.7(ACOX1):c.276del (p.His93fs) Deletion Pathogenic 861543 GRCh37: 17:73956450-73956450
GRCh38: 17:75960369-75960369
11 ACOX1 NM_004035.7(ACOX1):c.538+1G>A SNV Pathogenic 852761 GRCh37: 17:73953539-73953539
GRCh38: 17:75957458-75957458
12 ACOX1 NM_004035.7(ACOX1):c.320del (p.Phe107fs) Deletion Pathogenic 973761 GRCh37: 17:73956406-73956406
GRCh38: 17:75960325-75960325
13 ACOX1 NM_004035.7(ACOX1):c.1396del (p.Gln466fs) Deletion Pathogenic 977476 GRCh37: 17:73945881-73945881
GRCh38: 17:75949800-75949800
14 ACOX1 NM_004035.7(ACOX1):c.270-1_277delinsA Indel Pathogenic 1030736 GRCh37: 17:73956449-73956457
GRCh38: 17:75960368-75960376
15 ACOX1 NM_004035.7(ACOX1):c.372_389del (p.Phe124_Asn129del) Deletion Pathogenic 1503 rs387906248 GRCh37: 17:73956337-73956354
GRCh38: 17:75960256-75960273
16 ACOX1 NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) SNV Likely pathogenic 977523 GRCh37: 17:73951742-73951742
GRCh38: 17:75955661-75955661
17 ACOX1 NM_004035.7(ACOX1):c.658+1G>T SNV Likely pathogenic 941017 GRCh37: 17:73951908-73951908
GRCh38: 17:75955827-75955827
18 ACOX1 NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs) Deletion Likely pathogenic 804424 rs747192384 GRCh37: 17:73945965-73945966
GRCh38: 17:75949884-75949885
19 ACOX1 NC_000017.11:g.(?_75946738)_(75957576_?)del Deletion Likely pathogenic 830514 GRCh37: 17:73942819-73953657
GRCh38:
20 ACOX1 NC_000017.11:g.(?_75960205)_(75960385_?)dup Duplication Likely pathogenic 830851 GRCh37: 17:73956286-73956466
GRCh38:
21 ACOX1 NM_004035.7(ACOX1):c.1851del (p.Gly618fs) Deletion Likely pathogenic 208560 rs797045080 GRCh37: 17:73944416-73944416
GRCh38: 17:75948335-75948335
22 ACOX1 NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) SNV Likely pathogenic 216884 rs777937235 GRCh37: 17:73974708-73974708
GRCh38: 17:75978627-75978627
23 ACOX1 NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) SNV Conflicting interpretations of pathogenicity 325380 rs374533122 GRCh37: 17:73947535-73947535
GRCh38: 17:75951454-75951454
24 ACOX1 NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) SNV Conflicting interpretations of pathogenicity 325378 rs151255626 GRCh37: 17:73945909-73945909
GRCh38: 17:75949828-75949828
25 ACOX1 NM_004035.7(ACOX1):c.912C>T (p.Ser304=) SNV Conflicting interpretations of pathogenicity 325382 rs144826451 GRCh37: 17:73949564-73949564
GRCh38: 17:75953483-75953483
26 ACOX1 NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) SNV Conflicting interpretations of pathogenicity 325386 rs143260706 GRCh37: 17:73951754-73951754
GRCh38: 17:75955673-75955673
27 ACOX1 NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) SNV Conflicting interpretations of pathogenicity 733268 rs542159010 GRCh37: 17:73949651-73949651
GRCh38: 17:75953570-75953570
28 ACOX1 NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) SNV Conflicting interpretations of pathogenicity 788253 rs200833797 GRCh37: 17:73951993-73951993
GRCh38: 17:75955912-75955912
29 ACOX1 NM_004035.7(ACOX1):c.1344G>A (p.Val448=) SNV Conflicting interpretations of pathogenicity 325379 rs753969664 GRCh37: 17:73945933-73945933
GRCh38: 17:75949852-75949852
30 ACOX1 NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) SNV Conflicting interpretations of pathogenicity 743716 rs774049893 GRCh37: 17:73945331-73945331
GRCh38: 17:75949250-75949250
31 ACOX1 NM_004035.7(ACOX1):c.405T>C (p.Thr135=) SNV Conflicting interpretations of pathogenicity 785740 rs142474717 GRCh37: 17:73956321-73956321
GRCh38: 17:75960240-75960240
32 ACOX1 NM_004035.7(ACOX1):c.659-4G>A SNV Uncertain significance 325387 rs746563980 GRCh37: 17:73951766-73951766
GRCh38: 17:75955685-75955685
33 ACOX1 NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) SNV Uncertain significance 445693 rs200608977 GRCh37: 17:73945859-73945859
GRCh38: 17:75949778-75949778
34 ACOX1 NM_004035.7(ACOX1):c.1771C>A (p.Arg591Ser) SNV Uncertain significance 991134 GRCh37: 17:73944496-73944496
GRCh38: 17:75948415-75948415
35 ACOX1 NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) SNV Uncertain significance 991135 GRCh37: 17:73945808-73945808
GRCh38: 17:75949727-75949727
36 ACOX1 NM_004035.7(ACOX1):c.580A>C (p.Ile194Leu) SNV Uncertain significance 991136 GRCh37: 17:73951987-73951987
GRCh38: 17:75955906-75955906
37 ACOX1 NM_004035.7(ACOX1):c.269+4909G>A SNV Uncertain significance 1029152 GRCh37: 17:73969706-73969706
GRCh38: 17:75973625-75973625
38 ACOX1 NM_004035.7(ACOX1):c.521A>G (p.Lys174Arg) SNV Uncertain significance 1033629 GRCh37: 17:73953557-73953557
GRCh38: 17:75957476-75957476
39 ACOX1 NM_004035.7(ACOX1):c.703A>G (p.Ile235Val) SNV Uncertain significance 1037995 GRCh37: 17:73951718-73951718
GRCh38: 17:75955637-75955637
40 ACOX1 NM_004035.7(ACOX1):c.1333G>A (p.Gly445Arg) SNV Uncertain significance 861980 GRCh37: 17:73945944-73945944
GRCh38: 17:75949863-75949863
41 ACOX1 NM_004035.7(ACOX1):c.774+11A>G SNV Uncertain significance 888588 GRCh37: 17:73951636-73951636
GRCh38: 17:75955555-75955555
42 ACOX1 NM_004035.7(ACOX1):c.737G>A (p.Arg246His) SNV Uncertain significance 888589 GRCh37: 17:73951684-73951684
GRCh38: 17:75955603-75955603
43 ACOX1 NM_004035.7(ACOX1):c.*5028T>G SNV Uncertain significance 889402 GRCh37: 17:73937801-73937801
GRCh38: 17:75941720-75941720
44 ACOX1 NM_004035.7(ACOX1):c.*4820T>C SNV Uncertain significance 889403 GRCh37: 17:73938009-73938009
GRCh38: 17:75941928-75941928
45 ACOX1 NM_004035.7(ACOX1):c.*4806A>G SNV Uncertain significance 889404 GRCh37: 17:73938023-73938023
GRCh38: 17:75941942-75941942
46 ACOX1 NM_004035.7(ACOX1):c.*3628C>T SNV Uncertain significance 889458 GRCh37: 17:73939201-73939201
GRCh38: 17:75943120-75943120
47 ACOX1 NM_004035.7(ACOX1):c.*3576T>G SNV Uncertain significance 889459 GRCh37: 17:73939253-73939253
GRCh38: 17:75943172-75943172
48 ACOX1 NM_004035.7(ACOX1):c.*3551G>A SNV Uncertain significance 889460 GRCh37: 17:73939278-73939278
GRCh38: 17:75943197-75943197
49 ACOX1 NM_004035.7(ACOX1):c.*3421T>C SNV Uncertain significance 889461 GRCh37: 17:73939408-73939408
GRCh38: 17:75943327-75943327
50 ACOX1 NM_004035.7(ACOX1):c.1441G>A (p.Glu481Lys) SNV Uncertain significance 856223 GRCh37: 17:73945836-73945836
GRCh38: 17:75949755-75949755

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

72
# 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

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:

36
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Biosynthesis of unsaturated fatty acids hsa01040
3 PPAR signaling pathway hsa03320
4 Peroxisome hsa04146

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 SCP2 PRODH HSD17B4 HACD1 DHRS4 ACSL6
2
Show member pathways
11.81 SCP2 HSD17B4 HACD1 ACSL6 ACOX1
3
Show member pathways
11.45 SCP2 HSD17B4 HACD1 ACOX1
4 11.43 SCP2 ACSL6 ACOX1
5
Show member pathways
11.22 SCP2 HSD17B4 ACOX1
6
Show member pathways
11.16 SCP2 HSD17B4 ACOX1
7
Show member pathways
11.13 SCP2 ACSL6
8 10.94 SCP2 HSD17B4 DHRS4 ACSL6 ACOX1

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 9.46 HSD17B4 DHRS4 ACSL6 ACOX1
2 peroxisomal matrix GO:0005782 9.26 SCP2 HSD17B4 DHRS4 ACOX1
3 peroxisome GO:0005777 9.02 SCP2 HSD17B4 DHRS4 ACSL6 ACOX1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 PRODH HSD17B4 DHRS4 ACOX1
2 lipid metabolic process GO:0006629 9.73 HSD17B4 HACD1 ACSL6 ACOX1
3 fatty acid metabolic process GO:0006631 9.62 HSD17B4 HACD1 ACSL6 ACOX1
4 fatty acid beta-oxidation GO:0006635 9.54 SCP2 HSD17B4 ACOX1
5 bile acid biosynthetic process GO:0006699 9.46 SCP2 HSD17B4
6 very long-chain fatty acid metabolic process GO:0000038 9.43 HSD17B4 ACSL6 ACOX1
7 long-chain fatty-acyl-CoA biosynthetic process GO:0035338 9.4 HACD1 ACSL6
8 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.33 SCP2 HSD17B4 ACOX1
9 alpha-linolenic acid metabolic process GO:0036109 9.13 SCP2 HSD17B4 ACOX1
10 protein targeting to peroxisome GO:0006625 8.92 SCP2 HSD17B4 DHRS4 ACOX1

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

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 8.96 PRODH ACOX1
2 oxidoreductase activity GO:0016491 8.92 PRODH HSD17B4 DHRS4 ACOX1

Sources for Peroxisomal Acyl-Coa Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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