MCID: ACY005
MIFTS: 29

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Sources:
46OMIM, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

Name: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 46 9
Scad Deficiency 19 42 21 44 48
Short Chain Acyl-Coa Dehydrogenase Deficiency 42 20 48
Deficiency of Butyryl-Coa Dehydrogenase 21 22 61
Acads Deficiency 42 21 48
Short-Chain Acyl-Coa Dehydrogenase Deficiency 19 21
 
Scadh Deficiency 42 21
Scadd 42 48
Lipid-Storage Myopathy Secondary to Short Chain Acyl Coa Dehydrogenase Deficiency 42
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 21
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 21
Short Chain Acyl Coa Dehydrogenase Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
scad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal


External Ids:

OMIM46 201470
Orphanet48 26792
MESH via Orphanet34 C537596
ICD10 via Orphanet26 E71.3

Summaries for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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NIH Rare Diseases:42 Short-chain acyl-coenzyme a (coa) dehydrogenase (scad) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy. this condition belongs to a group of disorders known as fatty acid oxidation disorders (fod). scad deficiency is caused by the lack of an enzyme known as short-chain acyl-coa dehydrogenase, which is involved in the breakdown of short-chain fatty acids. when not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body. the symptoms of scad deficiency include a lack of energy, poor growth, and developmental delay. treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting). last updated: 10/6/2008

MalaCards based summary: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to myopathy and vlcad deficiency, and has symptoms including autosomal recessive inheritance, external ophthalmoplegia and psychosis. An important gene associated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of is ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain).

Genetics Home Reference:21 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).

OMIM:46 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are... (201470) more...

GeneReviews summary for scad

Related Diseases for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.6
2vlcad deficiency10.5
3hepatitis10.5
4axonal neuropathy10.5
5neuronitis10.5
6cerebritis10.5
7neuropathy10.5
8ophthalmoplegia10.5
9scoliosis10.5

Graphical network of diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:



Diseases related to acyl-coa dehydrogenase, short-chain, deficiency of

Symptoms for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Symptoms by clinical synopsis from OMIM:

201470

Clinical features from OMIM:

201470

HPO human phenotypes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 external ophthalmoplegia HP:0000544
3 psychosis HP:0000709
4 delayed speech and language development HP:0000750
5 seizures HP:0001250
6 muscular hypotonia HP:0001252
7 lethargy HP:0001254
8 global developmental delay HP:0001263
9 flexion contracture HP:0001371
10 failure to thrive HP:0001508
11 cardiomyopathy HP:0001638
12 abnormality of the cerebral white matter HP:0002500
13 scoliosis HP:0002650
14 myopathy HP:0003198
15 ethylmalonic aciduria HP:0003219
16 neonatal onset HP:0003623
17 episodic metabolic acidosis HP:0004911
18 feeding difficulties in infancy HP:0008872
19 facial palsy HP:0010628

Drugs & Therapeutics for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Drug clinical trials:

Search ClinicalTrials for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Search NIH Clinical Center for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Genetic Tests for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Genetic tests related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

id Genetic test Affiliating Genes
1 Short Chain Acyl-Coa Dehydrogenase Deficiency20 ACADS
2 Deficiency of Butyryl-Coa Dehydrogenase22

Anatomical Context for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Animal Models for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of or affiliated genes

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Publications for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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UniProtKB/Swiss-Prot genetic disease variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

63
id Symbol AA change Variation ID SNP ID
1ACADSp.Arg46TrpVAR_000310
2ACADSp.Gly92CysVAR_000311
3ACADSp.Arg107CysVAR_000312
4ACADSp.Trp177ArgVAR_000314rs57443665
5ACADSp.Arg383CysVAR_000316rs28940872
6ACADSp.Gly90SerVAR_013565
7ACADSp.Ala192ValVAR_013568rs28940874
8ACADSp.Arg325TrpVAR_013569
9ACADSp.Ser353LeuVAR_013570rs28941773
10ACADSp.Arg380TrpVAR_013571rs28940875

Clinvar genetic disease variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADSNM_000017.2(ACADS): c.164C> T (p.Pro55Leu)single nucleotide variantPathogenicrs147442301GRCh37Chr 12, 121164946: 121164946
2ACADSNM_000017.2(ACADS): c.1031A> G (p.Glu344Gly)single nucleotide variantPathogenicrs387906950GRCh37Chr 12, 121176944: 121176944
3ACADSNM_000017.2(ACADS): c.323G> A (p.Gly108Asp)single nucleotide variantPathogenicrs387906951GRCh37Chr 12, 121174901: 121174901
4ACADSNM_000017.2(ACADS): c.136C> T (p.Arg46Trp)single nucleotide variantPathogenicrs121908003GRCh37Chr 12, 121164918: 121164918
5ACADSNM_000017.2(ACADS): c.319C> T (p.Arg107Cys)single nucleotide variantPathogenicrs61732144GRCh37Chr 12, 121174897: 121174897
6ACADSNM_000017.2(ACADS): c.274G> T (p.Gly92Cys)single nucleotide variantPathogenicrs121908004GRCh37Chr 12, 121174852: 121174852
7ACADSNM_000017.2(ACADS): c.529T> C (p.Trp177Arg)single nucleotide variantPathogenicrs57443665GRCh37Chr 12, 121175696: 121175696
8ACADSNM_000017.2(ACADS): c.1147C> T (p.Arg383Cys)single nucleotide variantPathogenicrs28940872GRCh37Chr 12, 121177159: 121177159
9ACADSNM_000017.2(ACADS): c.511C> T (p.Arg171Trp)single nucleotide variantLikely pathogenic, Pathogenicrs1800556GRCh37Chr 12, 121175678: 121175678
10ACADSNM_000017.2(ACADS): c.625G> A (p.Gly209Ser)single nucleotide variantLikely pathogenic, Pathogenicrs1799958GRCh37Chr 12, 121176083: 121176083
11ACADSNM_000017.2(ACADS): c.268G> A (p.Gly90Ser)single nucleotide variantPathogenicrs121908005GRCh37Chr 12, 121174846: 121174846
12ACADSNM_000017.2(ACADS): c.310_312delGAG (p.Glu104del)deletionPathogenicrs387906308GRCh37Chr 12, 121174888: 121174890
13ACADSNM_000017.2(ACADS): c.575C> T (p.Ala192Val)single nucleotide variantPathogenicrs28940874GRCh37Chr 12, 121175742: 121175742
14ACADSNM_000017.2(ACADS): c.973C> T (p.Arg325Trp)single nucleotide variantPathogenicrs121908006GRCh37Chr 12, 121176662: 121176662
15ACADSNM_000017.2(ACADS): c.1058C> T (p.Ser353Leu)single nucleotide variantPathogenicrs28941773GRCh37Chr 12, 121176971: 121176971
16ACADSNM_000017.2(ACADS): c.1138C> T (p.Arg380Trp)single nucleotide variantPathogenicrs28940875GRCh37Chr 12, 121177150: 121177150

Expression for genes affiliated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Search GEO for disease gene expression data for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of.

Pathways for genes affiliated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Compounds for genes affiliated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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GO Terms for genes affiliated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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Sources for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet