MCID: ALP012
MIFTS: 27

Alpha-Methylacyl-Coa Racemase Deficiency malady

Categories: Genetic diseases (common), Metabolic diseases

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 52 11 24 25 70 27 12 68
Amacr Deficiency 11 24 25 70
 
Alpha-Methylacyl-Coa Racemase 12
Amacrd 70

Characteristics:

HPO:

64
alpha-methylacyl-coa racemase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 614307
Disease Ontology11 DOID:0060602
MeSH39 D018901

Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

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Genetics Home Reference:25 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.

Disease Ontology:11 A peroxisomal disease that has material basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.

OMIM:52 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable... (614307) more...

UniProtKB/Swiss-Prot:70 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, 411.4
2oculocutaneous albinism10.2
3albinism10.2
4encephalopathy10.2
5tremor10.2

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



Diseases related to alpha-methylacyl-coa racemase deficiency

Symptoms & Phenotypes for Alpha-Methylacyl-Coa Racemase Deficiency

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Symptoms by clinical synopsis from OMIM:

614307

Clinical features from OMIM:

614307

Human phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 ataxia64 rare (5%) HP:0001251
2 tremor64 rare (5%) HP:0001337
3 visual impairment64 HP:0000505
4 pigmentary retinopathy64 HP:0000580
5 spasticity64 HP:0001257
6 migraine64 HP:0002076
7 status epilepticus64 HP:0002133
8 sensorimotor neuropathy64 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 Deficiency27 24 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

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

36
Brain, Retina, Eye

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:

70
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
1AMACRNM_014324.5(AMACR): c.154T> C (p.Ser52Pro)SNVPathogenicrs121917814GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet