MCID: ALP012
MIFTS: 29

Alpha-Methylacyl-Coa Racemase Deficiency malady

Genetic diseases (common) category
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Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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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 based summary: Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to oculocutaneous albinism and albinism, and has symptoms including An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (alpha-methylacyl-CoA racemase). The compound testosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina.

Description from OMIM:46 614307

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

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

Name: Alpha-Methylacyl-Coa Racemase Deficiency 20 22 21 46 62
 
Amacr Deficiency 21 62


Classifications:

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


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/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
6prostate cancer10.1AMACR

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 10)
id Description Frequency HPO Source Accession
1 ataxia rare (5%) HP:0001251
2 tremor rare (5%) HP:0001337
3 autosomal recessive inheritance HP:0000007
4 visual impairment HP:0000505
5 pigmentary retinopathy HP:0000580
6 spasticity HP:0001257
7 migraine HP:0002076
8 status epilepticus HP:0002133
9 phenotypic variability HP:0003812
10 sensorimotor neuropathy HP:0007141

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Alpha-Methylacyl-Coa Racemase Deficiency

Search 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 Deficiency20 22 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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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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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:

64
id Symbol AA change Variation ID SNP ID
1AMACRp.Ser52ProVAR_010661

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

6
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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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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Sources:
44Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank
See all sources

Compounds related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1testosterone44 61 24 1112.1SACS, AMACR

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

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Cellular components related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057379.1SACS, AMACR
2mitochondrionGO:0057398.8SACS, AMACR

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet