MCID: ALP012
MIFTS: 27

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 49 11 22 23 67 65
Amacr Deficiency 22 23 67
 
Alpha-Methylacyl-Coa Racemase 11 24
Amacrd 67

Characteristics:

HPO:

61
alpha-methylacyl-coa racemase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM49 614307
MeSH36 D018901
UMLS65 C3280428

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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Genetics Home Reference:23 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 oculocutaneous albinism, 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.

OMIM:49 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable... (614307) more...

UniProtKB/Swiss-Prot:67 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

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

idRelated DiseaseScoreTop Affiliating Genes
1bile acid synthesis defect, congenital, 411.5
2oculocutaneous albinism10.3
3albinism10.3
4encephalopathy10.3
5tremor10.3

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:


seizures, muscle spasticity

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 Deficiency22 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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

33
Brain, Retina, Eye, Breast, Prostate, T cells

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
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. (15249642)
2004
6
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. (15016763)
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:

67
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet