MCID: ACY005
MIFTS: 36

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

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

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

Name: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 49 11
Scad Deficiency 21 45 22 23 47 51 67
Acads Deficiency 45 23 51 67
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 45 23 67
Short-Chain Acyl-Coa Dehydrogenase Deficiency 21 45 23
Deficiency of Butyryl-Coa Dehydrogenase 23 24 65
 
Scadh Deficiency 45 23 67
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 45 23
Short Chain Acyl-Coa Dehydrogenase Deficiency 22 51
Acyl-Coa Dehydrogenase Short-Chain Deficiency 67
Acadsd 67
Scadd 51

Characteristics:

Orphanet epidemiological data:

51
scad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal

HPO:

61
acyl-coa dehydrogenase, short-chain, deficiency of:
Onset and clinical course: neonatal onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 201470
Orphanet51 26792
ICD10 via Orphanet28 E71.3
MESH via Orphanet37 C537596
MedGen34 C0342783
MeSH36 D008052
UMLS65 C0342783

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

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NIH Rare Diseases:45 Short-chain acyl-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 mutations in the acads gene. these mutations lead to a shortage (deficiency) 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: 2/5/2016

MalaCards based summary: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to vlcad deficiency and gastric cancer, and has symptoms including facial palsy, feeding difficulties in infancy and episodic metabolic acidosis. An important gene associated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of is ACADS (Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain), and among its related pathways are Carbon metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha).

UniProtKB/Swiss-Prot:67 Acyl-CoA dehydrogenase short-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid- storage myopathy in adults.

Genetics Home Reference:23 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:49 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are... (201470) more...

GeneReviews summary for NBK63582

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

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Graphical network of the top 20 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 17)
id Description Frequency HPO Source Accession
1 facial palsy HP:0010628
2 feeding difficulties in infancy HP:0008872
3 episodic metabolic acidosis HP:0004911
4 ethylmalonic aciduria HP:0003219
5 myopathy HP:0003198
6 scoliosis HP:0002650
7 abnormality of the cerebral white matter HP:0002500
8 cardiomyopathy HP:0001638
9 failure to thrive HP:0001508
10 flexion contracture HP:0001371
11 global developmental delay HP:0001263
12 lethargy HP:0001254
13 muscular hypotonia HP:0001252
14 seizures HP:0001250
15 delayed speech and language development HP:0000750
16 psychosis HP:0000709
17 external ophthalmoplegia HP:0000544

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22 ACADS

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:

67
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADSNM_000017.3(ACADS): c.409C> T (p.Gln137Ter)single nucleotide variantLikely pathogenicrs752677472GRCh38Chr 12, 120737404: 120737404
2ACADSNM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs)deletionLikely pathogenic, Pathogenicrs786204691GRCh37Chr 12, 121176140: 121176141
3ACADSNM_000017.3(ACADS): c.164C> T (p.Pro55Leu)single nucleotide variantPathogenicrs147442301GRCh37Chr 12, 121164946: 121164946
4ACADSNM_000017.3(ACADS): c.1031A> G (p.Glu344Gly)single nucleotide variantLikely pathogenic, Pathogenicrs387906950GRCh37Chr 12, 121176944: 121176944
5ACADSNM_000017.3(ACADS): c.323G> A (p.Gly108Asp)single nucleotide variantPathogenicrs387906951GRCh37Chr 12, 121174901: 121174901
6ACADSNM_000017.3(ACADS): c.136C> T (p.Arg46Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121908003GRCh37Chr 12, 121164918: 121164918
7ACADSNM_000017.3(ACADS): c.319C> T (p.Arg107Cys)single nucleotide variantPathogenicrs61732144GRCh37Chr 12, 121174897: 121174897
8ACADSNM_000017.3(ACADS): c.274G> T (p.Gly92Cys)single nucleotide variantPathogenicrs121908004GRCh37Chr 12, 121174852: 121174852
9ACADSNM_000017.3(ACADS): c.529T> C (p.Trp177Arg)single nucleotide variantLikely pathogenic, Pathogenicrs57443665GRCh37Chr 12, 121175696: 121175696
10ACADSNM_000017.3(ACADS): c.1147C> T (p.Arg383Cys)single nucleotide variantPathogenicrs28940872GRCh37Chr 12, 121177159: 121177159
11ACADSNM_000017.3(ACADS): c.511C> T (p.Arg171Trp)single nucleotide variantLikely pathogenic, Pathogenicrs1800556GRCh37Chr 12, 121175678: 121175678
12ACADSNM_000017.3(ACADS): c.625G> A (p.Gly209Ser)single nucleotide variantLikely pathogenic, Pathogenicrs1799958GRCh37Chr 12, 121176083: 121176083
13ACADSNM_000017.3(ACADS): c.268G> A (p.Gly90Ser)single nucleotide variantPathogenicrs121908005GRCh37Chr 12, 121174846: 121174846
14ACADSNM_000017.3(ACADS): c.310_312delGAG (p.Glu104del)deletionPathogenicrs387906308GRCh37Chr 12, 121174888: 121174890
15ACADSNM_000017.3(ACADS): c.575C> T (p.Ala192Val)single nucleotide variantPathogenicrs28940874GRCh37Chr 12, 121175742: 121175742
16ACADSNM_000017.3(ACADS): c.973C> T (p.Arg325Trp)single nucleotide variantPathogenicrs121908006GRCh37Chr 12, 121176662: 121176662
17ACADSNM_000017.3(ACADS): c.1058C> T (p.Ser353Leu)single nucleotide variantPathogenicrs28941773GRCh37Chr 12, 121176971: 121176971
18ACADSNM_000017.3(ACADS): c.1138C> T (p.Arg380Trp)single nucleotide variantLikely pathogenic, Pathogenicrs28940875GRCh37Chr 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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Pathways related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ACADM, ACADS
2
Show member pathways
9.1ACADM, ACADS
3
Show member pathways
9.1ACADM, ACADS
4
Show member pathways
9.1ACADM, ACADS
5
Show member pathways
9.1ACADM, ACADS
6
Show member pathways
9.1ACADM, ACADS

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

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Biological processes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:00551149.1ACADM, ACADS

Molecular functions related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.1ACADM, ACADS

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet