AMACRD
MCID: ALP012
MIFTS: 45

Alpha-Methylacyl-Coa Racemase Deficiency (AMACRD) malady

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

Aliases & Descriptions for Alpha-Methylacyl-Coa Racemase Deficiency:

Name: Alpha-Methylacyl-Coa Racemase Deficiency 54 12 24 25 66 29 13 14 69
Amacr Deficiency 12 24 25 66
Alpha-Methylacyl-Coa Racemase 13
Amacrd 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 614307
Disease Ontology 12 DOID:0060602
MeSH 42 D018901

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 tremor, and has symptoms including ataxia, tremor and depression. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase), and among its related pathways/superpathways are Metabolism and Synthesis of bile acids and bile salts. The drugs Celecoxib and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotypes are homeostasis/metabolism and liver/biliary system

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 : 54 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable... (614307) more...

UniProtKB/Swiss-Prot : 66 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.

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 by clinical synopsis from OMIM:

614307

Clinical features from OMIM:

614307

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

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

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


muscle spasticity, seizures

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 SCP2 SLC45A2 ACAA1 ACOX1 AMACR CYP46A1
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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
rituximab Approved Phase 2 174722-31-7 10201696
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Thiotepa Approved Phase 2 52-24-4 5453
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
9 Alkylating Agents Phase 2
10 N-monoacetylcystine Phase 2
11 Thioctic Acid Phase 2
12 Tocopherols Phase 2
13 Tocotrienols Phase 2
14 Vitamins Phase 2
15 Immunosuppressive Agents Phase 2
16 Antilymphocyte Serum Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antineoplastic Agents, Alkylating Phase 2
20 Tocopherol Nutraceutical Phase 2
21 Tocotrienol Nutraceutical Phase 2
22 Alpha-lipoic Acid Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2

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:

id Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency 29 24 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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

39
Brain, Eye, Retina

Publications for Alpha-Methylacyl-Coa Racemase Deficiency

Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

id 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:

66
id 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
id 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

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 GeneCards Suite gene sharing:

id 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
11.14 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:

id 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 9.63 ACAA1 ACOX1 AMACR CYP46A1 HACL1 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)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 ACOX1 AKR1D1 CYP46A1 HSD17B4 PHYH
2 lipid metabolic process GO:0006629 9.85 ACAA1 ACOX1 AKR1D1 CYP46A1 HACL1 HSD17B4
3 fatty acid metabolic process GO:0006631 9.63 ACAA1 ACOX1 AMACR HACL1 HSD17B4 PHYH
4 fatty acid beta-oxidation GO:0006635 9.58 ACAA1 ACOX1 HSD17B4
5 alpha-linolenic acid metabolic process GO:0036109 9.56 ACAA1 ACOX1 HSD17B4 SCP2
6 androgen metabolic process GO:0008209 9.51 AKR1D1 HSD17B4
7 very long-chain fatty acid metabolic process GO:0000038 9.5 ACAA1 ACOX1 HSD17B4
8 bile acid metabolic process GO:0008206 9.49 ACAA1 AMACR
9 cholesterol catabolic process GO:0006707 9.48 AKR1D1 CYP46A1
10 fatty acid alpha-oxidation GO:0001561 9.43 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:

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.46 ACAA1 HACL1 PHYH SCP2
2 oxidoreductase activity GO:0016491 9.35 ACOX1 AKR1D1 CYP46A1 HSD17B4 PHYH
3 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.32 ACAA1 SCP2
4 cofactor binding GO:0048037 9.26 HACL1 PHYH
5 receptor binding GO:0005102 9.02 ACOX1 AMACR HACL1 HSD17B4 SCP2

Sources for Alpha-Methylacyl-Coa Racemase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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