AMACRD
MCID: ALP012
MIFTS: 49

Alpha-Methylacyl-Coa Racemase Deficiency (AMACRD)

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

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

MalaCards integrated aliases for Alpha-Methylacyl-Coa Racemase Deficiency:

Name: Alpha-Methylacyl-Coa Racemase Deficiency 58 12 26 76 38 30 13 6 15 41 17 74
Amacr Deficiency 58 12 26 76
Amacrd 58 76
Alpha-Methylacyl-Coa Racemase 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset usually in second decade
acute encephalopathic episodes may occur


HPO:

33
alpha-methylacyl-coa racemase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

Genetics Home Reference : 26 Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.

MalaCards based summary : Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to bile acid synthesis defect, congenital, 4 and prostate cancer, and has symptoms including seizures and muscle spasticity. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase), and among its related pathways/superpathways are Peroxisome and Primary bile acid biosynthesis. The drugs Fludarabine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotypes are pigmentary retinopathy and ataxia

Disease Ontology : 12 A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.

OMIM : 58 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010). (614307)

UniProtKB/Swiss-Prot : 76 Alpha-methylacyl-CoA racemase deficiency: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

Wikipedia : 77 In enzymology, an alpha-methylacyl-CoA racemase, also known as AMACR, is an enzyme that catalyzes the... more...

Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

Diseases related to Alpha-Methylacyl-Coa Racemase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 4 33.4 AMACR C1QTNF3-AMACR
2 prostate cancer 11.6
3 prostate cancer, hereditary, 8 11.1
4 prostate cancer, hereditary, 6 11.1
5 adenocarcinoma 10.9
6 adenoma 10.6
7 squamous cell carcinoma 10.5
8 gastric adenocarcinoma 10.5
9 albinism, oculocutaneous, type iv 10.4
10 oculocutaneous albinism 10.4
11 albinism 10.4
12 tremor 10.4
13 encephalopathy 10.4
14 bladder cancer 10.4
15 breast cancer 10.4
16 hepatocellular carcinoma 10.4
17 renal cell carcinoma, nonpapillary 10.4
18 ovarian cancer 10.4
19 prostatic hyperplasia, benign 10.4
20 helicobacter pylori infection 10.4
21 suppression of tumorigenicity 12 10.4
22 renal cell carcinoma, papillary, 1 10.4
23 colorectal adenoma 10.4
24 neuroendocrine carcinoma 10.4
25 benign mesothelioma 10.4
26 sertoli cell tumor 10.4
27 metanephric adenoma 10.4
28 nephrogenic adenoma 10.4
29 neuropathy 10.4
30 chromophil renal cell carcinoma 10.4
31 ovarian epithelial cancer 10.4
32 congenital bile acid synthesis defect 10.2 AKR1D1 AMACR
33 alpha-methylacetoacetic aciduria 10.1 ACAA1 HSD17B4
34 neonatal adrenoleukodystrophy 9.8 ACOX1 SCP2
35 peroxisomal acyl-coa oxidase deficiency 9.8 ACOX1 HSD17B4 SCP2
36 d-bifunctional protein deficiency 9.8 ACOX1 HSD17B4 SCP2
37 peroxisomal disease 9.8 HSD17B4 PHYH
38 peroxisome biogenesis disorder 1b 9.6 HSD17B4 PHYH
39 rhizomelic chondrodysplasia punctata, type 1 9.4 ACOX1 HSD17B4 PHYH SCP2
40 refsum disease, classic 9.3 AMACR HACL1 HSD17B4 PHYH SCP2

Graphical network of the top 20 diseases related to Alpha-Methylacyl-Coa Racemase Deficiency:



Diseases related to Alpha-Methylacyl-Coa Racemase Deficiency

Symptoms & Phenotypes for Alpha-Methylacyl-Coa Racemase Deficiency

Human phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy 33 frequent (33%) HP:0000580
2 ataxia 33 occasional (7.5%) HP:0001251
3 tremor 33 occasional (7.5%) HP:0001337
4 depressivity 33 HP:0000716
5 spasticity 33 HP:0001257
6 dysarthria 33 HP:0001260
7 visual impairment 33 HP:0000505
8 migraine 33 HP:0002076
9 hypergonadotropic hypogonadism 33 HP:0000815
10 status epilepticus 33 HP:0002133
11 sensorimotor neuropathy 33 HP:0007141

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
migraine
status epilepticus
cerebellar ataxia (1 patient)
more
Neurologic Peripheral Nervous System:
sensorimotor neuropathy

Abdomen Liver:
no liver disease

Laboratory Abnormalities:
increased serum pristanic acid
normal or increased serum phytanic acid
increased serum c26-bile-acid intermediates

Head And Neck Eyes:
visual impairment
pigmentary retinopathy (variable)

Neurologic Behavioral Psychiatric Manifestations:
depression

Endocrine Features:
primary hypogonadism (in 2 male patients)

Clinical features from OMIM:

614307

UMLS symptoms related to Alpha-Methylacyl-Coa Racemase Deficiency:


seizures, muscle spasticity

MGI Mouse Phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ACAA1 ACOX1 AMACR CYP46A1 HSD17B4 PHYH
2 liver/biliary system MP:0005370 9.02 ACOX1 AMACR HSD17B4 PHYH SCP2

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

Drugs for Alpha-Methylacyl-Coa Racemase 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 Alpha-Methylacyl-Coa Racemase Deficiency

Genetic Tests for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic tests related to Alpha-Methylacyl-Coa Racemase Deficiency:

# Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency 30 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

MalaCards organs/tissues related to Alpha-Methylacyl-Coa Racemase Deficiency:

42
Brain, Eye, Retina, Prostate, Liver, Breast

Publications for Alpha-Methylacyl-Coa Racemase Deficiency

Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

(show all 12)
# Title Authors Year
1
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. ( 23286897 )
2013
2
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. ( 22987308 )
2012
3
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. ( 21576695 )
2011
4
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. ( 20921516 )
2010
5
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. ( 20821052 )
2010
6
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency. ( 21686617 )
2009
7
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. ( 18032455 )
2008
8
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. ( 15016763 )
2004
9
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. ( 15249642 )
2004
10
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. ( 12512044 )
2003
11
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. ( 11160375 )
2001
12
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. ( 10655068 )
2000

Variations for Alpha-Methylacyl-Coa Racemase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 AMACR p.Ser52Pro VAR_010661 rs121917814

ClinVar genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMACR NM_014324.5(AMACR): c.154T> C (p.Ser52Pro) single nucleotide variant Pathogenic rs121917814 GRCh37 Chromosome 5, 34007971: 34007971
2 AMACR NM_014324.5(AMACR): c.154T> C (p.Ser52Pro) single nucleotide variant Pathogenic rs121917814 GRCh38 Chromosome 5, 34007866: 34007866
3 AMACR NM_014324.5(AMACR): c.25G> A (p.Val9Met) single nucleotide variant Benign rs3195676 GRCh37 Chromosome 5, 34008100: 34008100
4 AMACR NM_014324.5(AMACR): c.25G> A (p.Val9Met) single nucleotide variant Benign rs3195676 GRCh38 Chromosome 5, 34007995: 34007995
5 AMACR NM_014324.5(AMACR): c.524G> A (p.Gly175Asp) single nucleotide variant Benign rs10941112 GRCh37 Chromosome 5, 34004707: 34004707
6 AMACR NM_014324.5(AMACR): c.524G> A (p.Gly175Asp) single nucleotide variant Benign rs10941112 GRCh38 Chromosome 5, 34004602: 34004602
7 AMACR NM_014324.5(AMACR): c.602T> C (p.Leu201Ser) single nucleotide variant Benign rs2287939 GRCh37 Chromosome 5, 33998883: 33998883
8 AMACR NM_014324.5(AMACR): c.602T> C (p.Leu201Ser) single nucleotide variant Benign rs2287939 GRCh38 Chromosome 5, 33998778: 33998778
9 AMACR; C1QTNF3-AMACR NM_014324.5(AMACR): c.717G> T (p.Gln239His) single nucleotide variant Benign/Likely benign rs34677 GRCh37 Chromosome 5, 33998768: 33998768
10 AMACR; C1QTNF3-AMACR NM_014324.5(AMACR): c.717G> T (p.Gln239His) single nucleotide variant Benign/Likely benign rs34677 GRCh38 Chromosome 5, 33998663: 33998663
11 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.829G> A (p.Glu277Lys) single nucleotide variant Benign rs2278008 GRCh37 Chromosome 5, 33989518: 33989518
12 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.829G> A (p.Glu277Lys) single nucleotide variant Benign rs2278008 GRCh38 Chromosome 5, 33989413: 33989413
13 AMACR NM_014324.5(AMACR): c.844G> C (p.Glu282Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs181341030 GRCh38 Chromosome 5, 33989398: 33989398
14 AMACR NM_014324.5(AMACR): c.844G> C (p.Glu282Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs181341030 GRCh37 Chromosome 5, 33989503: 33989503
15 AMACR NM_014324.5(AMACR): c.782T> C (p.Met261Thr) single nucleotide variant Benign/Likely benign rs3195678 GRCh37 Chromosome 5, 33989565: 33989565
16 AMACR NM_014324.5(AMACR): c.782T> C (p.Met261Thr) single nucleotide variant Benign/Likely benign rs3195678 GRCh38 Chromosome 5, 33989460: 33989460
17 AMACR NM_014324.5(AMACR): c.554T> C (p.Val185Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145786819 GRCh37 Chromosome 5, 33998931: 33998931
18 AMACR NM_014324.5(AMACR): c.554T> C (p.Val185Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145786819 GRCh38 Chromosome 5, 33998826: 33998826
19 AMACR NM_014324.5(AMACR): c.*2088A> T single nucleotide variant Uncertain significance rs182361997 GRCh37 Chromosome 5, 33987110: 33987110
20 AMACR NM_014324.5(AMACR): c.*2088A> T single nucleotide variant Uncertain significance rs182361997 GRCh38 Chromosome 5, 33987005: 33987005
21 AMACR NM_014324.5(AMACR): c.*1945A> G single nucleotide variant Likely benign rs79880451 GRCh37 Chromosome 5, 33987253: 33987253
22 AMACR NM_014324.5(AMACR): c.*1945A> G single nucleotide variant Likely benign rs79880451 GRCh38 Chromosome 5, 33987148: 33987148
23 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh38 Chromosome 5, 33988023: 33988023
24 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh37 Chromosome 5, 33988128: 33988128
25 AMACR NM_014324.5(AMACR): c.*753T> G single nucleotide variant Benign/Likely benign rs140021599 GRCh38 Chromosome 5, 33988340: 33988340
26 AMACR NM_014324.5(AMACR): c.*753T> G single nucleotide variant Benign/Likely benign rs140021599 GRCh37 Chromosome 5, 33988445: 33988445
27 AMACR NM_014324.5(AMACR): c.*573dupA duplication Uncertain significance rs886060528 GRCh38 Chromosome 5, 33988520: 33988520
28 AMACR NM_014324.5(AMACR): c.*573dupA duplication Uncertain significance rs886060528 GRCh37 Chromosome 5, 33988625: 33988625
29 AMACR NM_014324.5(AMACR): c.48G> A (p.Pro16=) single nucleotide variant Uncertain significance rs144271819 GRCh38 Chromosome 5, 34007972: 34007972
30 AMACR NM_014324.5(AMACR): c.48G> A (p.Pro16=) single nucleotide variant Uncertain significance rs144271819 GRCh37 Chromosome 5, 34008077: 34008077
31 AMACR NM_014324.5(AMACR): c.*1622T> C single nucleotide variant Uncertain significance rs886060523 GRCh37 Chromosome 5, 33987576: 33987576
32 AMACR NM_014324.5(AMACR): c.*1622T> C single nucleotide variant Uncertain significance rs886060523 GRCh38 Chromosome 5, 33987471: 33987471
33 AMACR NM_014324.5(AMACR): c.*1181G> A single nucleotide variant Uncertain significance rs886060526 GRCh37 Chromosome 5, 33988017: 33988017
34 AMACR NM_014324.5(AMACR): c.*1181G> A single nucleotide variant Uncertain significance rs886060526 GRCh38 Chromosome 5, 33987912: 33987912
35 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh38 Chromosome 5, 33988111: 33988111
36 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh37 Chromosome 5, 33988216: 33988216
37 AMACR NM_014324.5(AMACR): c.*976G> A single nucleotide variant Likely benign rs150664086 GRCh38 Chromosome 5, 33988117: 33988117
38 AMACR NM_014324.5(AMACR): c.*976G> A single nucleotide variant Likely benign rs150664086 GRCh37 Chromosome 5, 33988222: 33988222
39 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh38 Chromosome 5, 33988476: 33988476
40 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh37 Chromosome 5, 33988581: 33988581
41 AMACR NM_014324.5(AMACR): c.*540T> C single nucleotide variant Uncertain significance rs146385238 GRCh38 Chromosome 5, 33988553: 33988553
42 AMACR NM_014324.5(AMACR): c.*540T> C single nucleotide variant Uncertain significance rs146385238 GRCh37 Chromosome 5, 33988658: 33988658
43 AMACR NM_014324.5(AMACR): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs886060529 GRCh38 Chromosome 5, 33989305: 33989305
44 AMACR NM_014324.5(AMACR): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs886060529 GRCh37 Chromosome 5, 33989410: 33989410
45 AMACR NM_014324.5(AMACR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs886060530 GRCh38 Chromosome 5, 33989353: 33989353
46 AMACR NM_014324.5(AMACR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs886060530 GRCh37 Chromosome 5, 33989458: 33989458
47 AMACR NM_014324.5(AMACR): c.353G> A (p.Arg118Gln) single nucleotide variant Benign/Likely benign rs16892150 GRCh38 Chromosome 5, 34005794: 34005794
48 AMACR NM_014324.5(AMACR): c.353G> A (p.Arg118Gln) single nucleotide variant Benign/Likely benign rs16892150 GRCh37 Chromosome 5, 34005899: 34005899
49 AMACR NM_014324.5(AMACR): c.*2044C> A single nucleotide variant Uncertain significance rs529140346 GRCh37 Chromosome 5, 33987154: 33987154
50 AMACR NM_014324.5(AMACR): c.*2044C> A single nucleotide variant Uncertain significance rs529140346 GRCh38 Chromosome 5, 33987049: 33987049

Expression for Alpha-Methylacyl-Coa Racemase Deficiency

Search GEO for disease gene expression data for Alpha-Methylacyl-Coa Racemase Deficiency.

Pathways for Alpha-Methylacyl-Coa Racemase Deficiency

Pathways related to Alpha-Methylacyl-Coa Racemase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Peroxisome hsa04146
2 Primary bile acid biosynthesis hsa00120

GO Terms for Alpha-Methylacyl-Coa Racemase Deficiency

Cellular components related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.92 ACAA1 ACOX1 AKR1D1 AMACR HACL1 HSD17B4
2 intracellular membrane-bounded organelle GO:0043231 9.55 ACAA1 ACOX1 AMACR CYP46A1 SCP2
3 peroxisome GO:0005777 9.5 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
4 peroxisomal membrane GO:0005778 9.26 ACOX1 HSD17B4
5 peroxisomal matrix GO:0005782 9.17 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH

Biological processes related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 ACOX1 AKR1D1 CYP46A1 HSD17B4 OGDH PHYH
2 lipid metabolic process GO:0006629 9.85 ACAA1 ACOX1 AKR1D1 CYP46A1 HSD17B4
3 fatty acid metabolic process GO:0006631 9.8 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
4 fatty acid beta-oxidation GO:0006635 9.61 ACAA1 ACOX1 HSD17B4
5 alpha-linolenic acid metabolic process GO:0036109 9.56 ACAA1 ACOX1 HSD17B4 SCP2
6 generation of precursor metabolites and energy GO:0006091 9.55 ACOX1 OGDH
7 bile acid biosynthetic process GO:0006699 9.55 AKR1D1 AMACR CYP46A1 HSD17B4 SCP2
8 2-oxoglutarate metabolic process GO:0006103 9.54 OGDH PHYH
9 very long-chain fatty acid metabolic process GO:0000038 9.54 ACAA1 ACOX1 HSD17B4
10 androgen metabolic process GO:0008209 9.52 AKR1D1 HSD17B4
11 bile acid metabolic process GO:0008206 9.51 ACAA1 AMACR
12 cholesterol catabolic process GO:0006707 9.49 AKR1D1 CYP46A1
13 fatty acid alpha-oxidation GO:0001561 9.48 HACL1 PHYH
14 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.35 ACAA1 ACOX1 AMACR HSD17B4 SCP2
15 protein targeting to peroxisome GO:0006625 9.17 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH

Molecular functions related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.62 ACAA1 HACL1 PHYH SCP2
2 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.4 ACAA1 SCP2
3 cofactor binding GO:0048037 9.37 HACL1 PHYH
4 signaling receptor binding GO:0005102 9.35 ACOX1 AMACR HACL1 HSD17B4 SCP2
5 thiamine pyrophosphate binding GO:0030976 9.26 HACL1 OGDH
6 palmitoyl-CoA oxidase activity GO:0016401 9.16 ACAA1 ACOX1
7 oxidoreductase activity GO:0016491 9.1 ACOX1 AKR1D1 CYP46A1 HSD17B4 OGDH PHYH

Sources for Alpha-Methylacyl-Coa Racemase 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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