MCID: ALP012
MIFTS: 22

Alpha-Methylacyl-Coa Racemase Deficiency malady

Genetic diseases (common) category

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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Sources:
48OMIM, 34MalaCards
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MalaCards: Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to oculocutaneous albinism and albinism. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (alpha-methylacyl-CoA racemase). Affiliated tissues include brain.

Description from OMIM:48 614307

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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Sources:
21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

alpha-methylacyl-coa racemase deficiency 21 23 22 48 63
amacr deficiency 22 63


Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Alpha-Methylacyl-Coa Racemase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism10.5
2albinism10.5
3oculocutaneous albinism type 410.5
4tremor10.5
5bile acid synthesis defect, congenital, 410.2

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

614307

Clinical features from OMIM:

614307

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Alpha-Methylacyl-Coa Racemase Deficiency

Drug clinical trials:

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

Search CenterWatch for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic Tests for Alpha-Methylacyl-Coa Racemase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Alpha-Methylacyl-Coa Racemase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency21 23 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Alpha-Methylacyl-Coa Racemase Deficiency:

34
Brain

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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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

65
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661

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

1
id Gene Name 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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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Compounds 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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Products for genes affiliated with Alpha-Methylacyl-Coa Racemase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Methylacyl-Coa Racemase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet