MCID: ALP012
MIFTS: 18

Alpha-Methylacyl-Coa Racemase Deficiency malady

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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: 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, eye and retina.

Description from OMIM:46 614307

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 60UMLS
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Aliases & Descriptions:

alpha-methylacyl-coa racemase deficiency 20 22 21 46 60
amacr deficiency 21 60


Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

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17GeneCards, 18GeneDecks
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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
4bile acid synthesis defect, congenital, 410.2

Clinical Features for Alpha-Methylacyl-Coa Racemase Deficiency

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46OMIM
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Clinical features from OMIM:

614307

Clinical synopsis from OMIM:

614307

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alpha-Methylacyl-Coa Racemase Deficiency

Drug clinical trials:

Search ClinicalTrials for Alpha-Methylacyl-Coa Racemase Deficiency

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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20GeneTests, 22GTR
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Genetic tests related to Alpha-Methylacyl-Coa Racemase Deficiency:

id Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency20 22 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Alpha-Methylacyl-Coa Racemase Deficiency:

32
Brain, Eye, Retina

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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Genetic Variations for Alpha-Methylacyl-Coa Racemase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661

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

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet