MCID: ALP012
MIFTS: 46

Alpha-Methylacyl-Coa Racemase Deficiency

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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

Name: Alpha-Methylacyl-Coa Racemase Deficiency 57 12 25 75 37 29 13 6 15 40 73
Amacr Deficiency 57 12 25 75
Amacrd 57 75
Alpha-Methylacyl-Coa Racemase 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alpha-methylacyl-coa racemase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

Genetics Home Reference : 25 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 albinism, oculocutaneous, type iv, and has symptoms including muscle spasticity and seizures. 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 Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotypes are visual impairment and pigmentary retinopathy

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 : 57 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 : 75 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 : 76 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 pigmentary retinopathy 32 frequent (33%) HP:0000580
3 depressivity 32 HP:0000716
4 hypergonadotropic hypogonadism 32 HP:0000815
5 ataxia 32 occasional (7.5%) HP:0001251
6 spasticity 32 HP:0001257
7 tremor 32 occasional (7.5%) HP:0001337
8 migraine 32 HP:0002076
9 status epilepticus 32 HP:0002133
10 sensorimotor neuropathy 32 HP:0007141

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


muscle spasticity, seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ACOX1 AMACR CYP46A1 HSD17B4 PHYH SCP2
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 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 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 29 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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

41
Brain, Eye, Retina, Liver

Publications for Alpha-Methylacyl-Coa Racemase Deficiency

Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

# 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
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. ( 20921516 )
2010
4
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. ( 18032455 )
2008
5
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. ( 15016763 )
2004
6
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. ( 15249642 )
2004
7
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. ( 11160375 )
2001

Variations for Alpha-Methylacyl-Coa Racemase Deficiency

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

75
# 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 80)
# 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.782T> C (p.Met261Thr) single nucleotide variant Benign/Likely benign rs3195678 GRCh37 Chromosome 5, 33989565: 33989565
4 AMACR NM_014324.5(AMACR): c.782T> C (p.Met261Thr) single nucleotide variant Benign/Likely benign rs3195678 GRCh38 Chromosome 5, 33989460: 33989460
5 AMACR NM_014324.5(AMACR): c.*2088A> T single nucleotide variant Uncertain significance rs182361997 GRCh37 Chromosome 5, 33987110: 33987110
6 AMACR NM_014324.5(AMACR): c.*2088A> T single nucleotide variant Uncertain significance rs182361997 GRCh38 Chromosome 5, 33987005: 33987005
7 AMACR NM_014324.5(AMACR): c.*1945A> G single nucleotide variant Likely benign rs79880451 GRCh37 Chromosome 5, 33987253: 33987253
8 AMACR NM_014324.5(AMACR): c.*1945A> G single nucleotide variant Likely benign rs79880451 GRCh38 Chromosome 5, 33987148: 33987148
9 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh38 Chromosome 5, 33988023: 33988023
10 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*1070C> T single nucleotide variant Likely benign rs16892064 GRCh37 Chromosome 5, 33988128: 33988128
11 AMACR NM_014324.5(AMACR): c.*753T> G single nucleotide variant Benign/Likely benign rs140021599 GRCh38 Chromosome 5, 33988340: 33988340
12 AMACR NM_014324.5(AMACR): c.*753T> G single nucleotide variant Benign/Likely benign rs140021599 GRCh37 Chromosome 5, 33988445: 33988445
13 AMACR NM_014324.5(AMACR): c.*573dupA duplication Uncertain significance rs886060528 GRCh38 Chromosome 5, 33988520: 33988520
14 AMACR NM_014324.5(AMACR): c.*573dupA duplication Uncertain significance rs886060528 GRCh37 Chromosome 5, 33988625: 33988625
15 AMACR NM_014324.5(AMACR): c.48G> A (p.Pro16=) single nucleotide variant Uncertain significance rs144271819 GRCh37 Chromosome 5, 34008077: 34008077
16 AMACR NM_014324.5(AMACR): c.48G> A (p.Pro16=) single nucleotide variant Uncertain significance rs144271819 GRCh38 Chromosome 5, 34007972: 34007972
17 AMACR NM_014324.5(AMACR): c.*1622T> C single nucleotide variant Uncertain significance rs886060523 GRCh37 Chromosome 5, 33987576: 33987576
18 AMACR NM_014324.5(AMACR): c.*1622T> C single nucleotide variant Uncertain significance rs886060523 GRCh38 Chromosome 5, 33987471: 33987471
19 AMACR NM_014324.5(AMACR): c.*1181G> A single nucleotide variant Uncertain significance rs886060526 GRCh37 Chromosome 5, 33988017: 33988017
20 AMACR NM_014324.5(AMACR): c.*1181G> A single nucleotide variant Uncertain significance rs886060526 GRCh38 Chromosome 5, 33987912: 33987912
21 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh38 Chromosome 5, 33988111: 33988111
22 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*982C> T single nucleotide variant Likely benign rs16892066 GRCh37 Chromosome 5, 33988216: 33988216
23 AMACR NM_014324.5(AMACR): c.*976G> A single nucleotide variant Likely benign rs150664086 GRCh38 Chromosome 5, 33988117: 33988117
24 AMACR NM_014324.5(AMACR): c.*976G> A single nucleotide variant Likely benign rs150664086 GRCh37 Chromosome 5, 33988222: 33988222
25 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh38 Chromosome 5, 33988476: 33988476
26 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.*617G> T single nucleotide variant Likely benign rs12659370 GRCh37 Chromosome 5, 33988581: 33988581
27 AMACR NM_014324.5(AMACR): c.*540T> C single nucleotide variant Uncertain significance rs146385238 GRCh38 Chromosome 5, 33988553: 33988553
28 AMACR NM_014324.5(AMACR): c.*540T> C single nucleotide variant Uncertain significance rs146385238 GRCh37 Chromosome 5, 33988658: 33988658
29 AMACR NM_014324.5(AMACR): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs886060529 GRCh38 Chromosome 5, 33989305: 33989305
30 AMACR NM_014324.5(AMACR): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs886060529 GRCh37 Chromosome 5, 33989410: 33989410
31 AMACR NM_014324.5(AMACR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs886060530 GRCh38 Chromosome 5, 33989353: 33989353
32 AMACR NM_014324.5(AMACR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs886060530 GRCh37 Chromosome 5, 33989458: 33989458
33 AMACR NM_014324.5(AMACR): c.353G> A (p.Arg118Gln) single nucleotide variant Benign/Likely benign rs16892150 GRCh37 Chromosome 5, 34005899: 34005899
34 AMACR NM_014324.5(AMACR): c.353G> A (p.Arg118Gln) single nucleotide variant Benign/Likely benign rs16892150 GRCh38 Chromosome 5, 34005794: 34005794
35 AMACR NM_014324.5(AMACR): c.*2044C> A single nucleotide variant Uncertain significance rs529140346 GRCh37 Chromosome 5, 33987154: 33987154
36 AMACR NM_014324.5(AMACR): c.*2044C> A single nucleotide variant Uncertain significance rs529140346 GRCh38 Chromosome 5, 33987049: 33987049
37 AMACR NM_014324.5(AMACR): c.*1853G> A single nucleotide variant Uncertain significance rs886060522 GRCh37 Chromosome 5, 33987345: 33987345
38 AMACR NM_014324.5(AMACR): c.*1853G> A single nucleotide variant Uncertain significance rs886060522 GRCh38 Chromosome 5, 33987240: 33987240
39 AMACR NM_014324.5(AMACR): c.*1804G> T single nucleotide variant Likely benign rs116206502 GRCh37 Chromosome 5, 33987394: 33987394
40 AMACR NM_014324.5(AMACR): c.*1804G> T single nucleotide variant Likely benign rs116206502 GRCh38 Chromosome 5, 33987289: 33987289
41 AMACR NM_014324.5(AMACR): c.*1727G> T single nucleotide variant Likely benign rs116333833 GRCh37 Chromosome 5, 33987471: 33987471
42 AMACR NM_014324.5(AMACR): c.*1727G> T single nucleotide variant Likely benign rs116333833 GRCh38 Chromosome 5, 33987366: 33987366
43 AMACR NM_014324.5(AMACR): c.*1560G> A single nucleotide variant Uncertain significance rs886060524 GRCh38 Chromosome 5, 33987533: 33987533
44 AMACR NM_014324.5(AMACR): c.*1560G> A single nucleotide variant Uncertain significance rs886060524 GRCh37 Chromosome 5, 33987638: 33987638
45 AMACR NM_014324.5(AMACR): c.*1367T> C single nucleotide variant Uncertain significance rs752473789 GRCh37 Chromosome 5, 33987831: 33987831
46 AMACR NM_014324.5(AMACR): c.*1367T> C single nucleotide variant Uncertain significance rs752473789 GRCh38 Chromosome 5, 33987726: 33987726
47 AMACR NM_014324.5(AMACR): c.*1353G> A single nucleotide variant Uncertain significance rs886060525 GRCh37 Chromosome 5, 33987845: 33987845
48 AMACR NM_014324.5(AMACR): c.*1353G> A single nucleotide variant Uncertain significance rs886060525 GRCh38 Chromosome 5, 33987740: 33987740
49 AMACR NM_014324.5(AMACR): c.*449T> C single nucleotide variant Uncertain significance rs550502356 GRCh38 Chromosome 5, 33988644: 33988644
50 AMACR NM_014324.5(AMACR): c.*449T> C single nucleotide variant Uncertain significance rs550502356 GRCh37 Chromosome 5, 33988749: 33988749

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:

37
# Name Kegg Source Accession
1 Peroxisome hsa04146
2 Primary bile acid biosynthesis hsa00120

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ACAA1 ACOX1 AKR1D1 AMACR CYP46A1 HACL1
2
Show member pathways
11.96 AKR1D1 AMACR CYP46A1 HSD17B4 SCP2
3 11.44 ACAA1 ACOX1 SCP2
4 11.42 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
5
Show member pathways
11.28 ACAA1 ACOX1 HSD17B4 SCP2
6
Show member pathways
11.18 ACAA1 ACOX1
7
Show member pathways
11.1 ACAA1 ACOX1 HSD17B4 SCP2
8
Show member pathways
10.89 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
9 10.85 ACAA1 SCP2

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 mitochondrion GO:0005739 9.72 ACOX1 AMACR HSD17B4 PHYH SCP2
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 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 ACOX1 AKR1D1 CYP46A1 HSD17B4 PHYH
2 lipid metabolic process GO:0006629 9.8 ACAA1 ACOX1 AKR1D1 CYP46A1 HSD17B4 PHYH
3 fatty acid metabolic process GO:0006631 9.73 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
4 fatty acid beta-oxidation GO:0006635 9.54 ACAA1 ACOX1 HSD17B4
5 androgen metabolic process GO:0008209 9.51 AKR1D1 HSD17B4
6 bile acid metabolic process GO:0008206 9.49 ACAA1 AMACR
7 very long-chain fatty acid metabolic process GO:0000038 9.48 ACAA1 ACOX1
8 cholesterol catabolic process GO:0006707 9.46 AKR1D1 CYP46A1
9 alpha-linolenic acid metabolic process GO:0036109 9.46 ACAA1 ACOX1 HSD17B4 SCP2
10 fatty acid alpha-oxidation GO:0001561 9.4 HACL1 PHYH
11 bile acid biosynthetic process GO:0006699 9.35 AKR1D1 AMACR CYP46A1 HSD17B4 SCP2
12 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.02 ACAA1 ACOX1 AMACR HSD17B4 SCP2

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 9.56 ACAA1 HACL1 PHYH SCP2
2 oxidoreductase activity GO:0016491 9.55 ACOX1 AKR1D1 CYP46A1 HSD17B4 PHYH
3 cofactor binding GO:0048037 9.37 HACL1 PHYH
4 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.32 ACAA1 SCP2
5 signaling receptor binding GO:0005102 9.02 ACOX1 AMACR HACL1 HSD17B4 SCP2
6 palmitoyl-CoA oxidase activity GO:0016401 8.96 ACAA1 ACOX1

Sources for Alpha-Methylacyl-Coa Racemase 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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