MCID: ALP012
MIFTS: 28

Alpha-Methylacyl-Coa Racemase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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

Name: Alpha-Methylacyl-Coa Racemase Deficiency 50 23 24 68 25 12 66
Amacr Deficiency 23 24 68
 
Alpha-Methylacyl-Coa Racemase 12
Amacrd 68

Characteristics:

HPO:

62
alpha-methylacyl-coa racemase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 614307
MeSH37 D018901

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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Genetics Home Reference:24 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 prostate cancer and prostatitis, and has symptoms including ataxia, tremor and visual impairment. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase). Affiliated tissues include brain, retina and eye.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable... (614307) more...

Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1prostate cancer11.5
2prostatitis11.1
3bile acid synthesis defect, congenital, 411.0
4adenocarcinoma10.8
5prostate adenocarcinoma10.7
6adenoma10.5
7tuberculosis10.4
8oculocutaneous albinism10.3
9albinism10.3
10encephalopathy10.3
11tremor10.3
12hepatocellular carcinoma10.3
13breast cancer10.3
14renal cell carcinoma10.3
15kidney cancer10.3

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



Diseases related to alpha-methylacyl-coa racemase deficiency

Symptoms for Alpha-Methylacyl-Coa Racemase Deficiency

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Symptoms by clinical synopsis from OMIM:

614307

Clinical features from OMIM:

614307

HPO human phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

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

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


muscle spasticity, seizures

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic Tests for Alpha-Methylacyl-Coa Racemase Deficiency

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

id Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency25 23 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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

34
Brain, Retina, Eye

Animal Models for Alpha-Methylacyl-Coa Racemase Deficiency or affiliated genes

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Publications for Alpha-Methylacyl-Coa Racemase Deficiency

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Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

idTitleAuthorsYear
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

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

68
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661rs121917814

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_014324.5(AMACR): c.154T> C (p.Ser52Pro)single nucleotide variantPathogenicrs121917814GRCh37Chr 5, 34007971: 34007971

Expression for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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

Pathways for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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GO Terms for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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Sources for Alpha-Methylacyl-Coa Racemase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet