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 51 12
Scad Deficiency 23 47 24 25 53 69 49
Acads Deficiency 47 25 53 69
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 47 25 69
Short-Chain Acyl-Coa Dehydrogenase Deficiency 23 47 25
Short Chain Acyl-Coa Dehydrogenase Deficiency 11 24 53
 
Deficiency of Butyryl-Coa Dehydrogenase 25 26 67
Scadh Deficiency 47 25 69
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 47 25
Acyl-Coa Dehydrogenase Short-Chain Deficiency 69
Acadsd 69
Scadd 53

Characteristics:

Orphanet epidemiological data:

53
scad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal

HPO:

63
acyl-coa dehydrogenase, short-chain, deficiency of:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset

Classifications:



External Ids:

OMIM51 201470
Disease Ontology11 DOID:0080154
Orphanet53 ORPHA26792
MESH via Orphanet39 C537596
ICD10 via Orphanet30 E71.3
MedGen36 C0342783
MeSH38 D008052

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

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NIH Rare Diseases:47 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 myopathy, and has symptoms including external ophthalmoplegia, psychosis and delayed speech and language development. 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).

Disease Ontology:11 A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.

Genetics Home Reference:25 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:51 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are... (201470) more...

UniProtKB/Swiss-Prot:69 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.

GeneReviews for NBK63582

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:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1vlcad deficiency11.4
2myopathy10.2
3hepatitis10.1
4scoliosis10.1
5epilepsy10.1
6cerebritis10.1
7axonal neuropathy10.1
8neuronitis10.1
9neuropathy10.1
10deafness, autosomal dominant 259.6ACADM, ACADS
11acyl-coa dehydrogenase, medium chain, deficiency of9.5ACADM, ACADS
12fatal infantile encephalocardiomyopathy9.5ACADM, ACADS
13fga-related congenital afibrinogenemia9.5ACADM, ACADS
14dyskeratosis congenita, autosomal recessive 19.3ACADM, ACADS

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

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

 63 (show all 17)
id Description HPO Frequency HPO Source Accession
1 external ophthalmoplegia63 HP:0000544
2 psychosis63 HP:0000709
3 delayed speech and language development63 HP:0000750
4 seizures63 HP:0001250
5 muscular hypotonia63 HP:0001252
6 lethargy63 HP:0001254
7 global developmental delay63 HP:0001263
8 flexion contracture63 HP:0001371
9 failure to thrive63 HP:0001508
10 cardiomyopathy63 HP:0001638
11 abnormality of the cerebral white matter63 HP:0002500
12 scoliosis63 HP:0002650
13 myopathy63 HP:0003198
14 ethylmalonic aciduria63 HP:0003219
15 episodic metabolic acidosis63 HP:0004911
16 feeding difficulties in infancy63 HP:0008872
17 facial palsy63 HP:0010628

UMLS symptoms related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:


lethargy, seizures, muscle weakness, facial paresis

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 Deficiency of Butyryl-Coa Dehydrogenase26
2 Short Chain Acyl-Coa Dehydrogenase Deficiency24 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:

69
id Symbol AA change Variation ID SNP ID
1ACADSp.Arg46TrpVAR_000310rs121908003
2ACADSp.Gly92CysVAR_000311rs121908004
3ACADSp.Arg107CysVAR_000312rs61732144
4ACADSp.Trp177ArgVAR_000314rs57443665
5ACADSp.Arg383CysVAR_000316rs28940872
6ACADSp.Gly90SerVAR_013565rs121908005
7ACADSp.Ala192ValVAR_013568rs28940874
8ACADSp.Arg325TrpVAR_013569rs121908006
9ACADSp.Ser353LeuVAR_013570rs28941773
10ACADSp.Arg380TrpVAR_013571rs28940875

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

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADSNM_000017.3(ACADS): c.409C> T (p.Gln137Ter)SNVLikely pathogenicrs752677472GRCh38Chr 12, 120737404: 120737404
2ACADSNM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs)deletionLikely pathogenic, Pathogenicrs786204691GRCh37Chr 12, 121176140: 121176141
3ACADSNM_000017.3(ACADS): c.1095G> T (p.Gln365His)SNVLikely pathogenic, Pathogenicrs368469075GRCh37Chr 12, 121177107: 121177107
4ACADSNM_000017.3(ACADS): c.1108A> G (p.Met370Val)SNVPathogenicrs566325901GRCh37Chr 12, 121177120: 121177120
5ACADSNM_000017.3(ACADS): c.164C> T (p.Pro55Leu)SNVPathogenicrs147442301GRCh37Chr 12, 121164946: 121164946
6ACADSNM_000017.3(ACADS): c.1031A> G (p.Glu344Gly)SNVLikely pathogenic, Pathogenicrs387906950GRCh37Chr 12, 121176944: 121176944
7ACADSNM_000017.3(ACADS): c.323G> A (p.Gly108Asp)SNVPathogenicrs387906951GRCh37Chr 12, 121174901: 121174901
8ACADSNM_000017.2: c.473-2A> GSNVLikely pathogenicChr na, -1: -1
9ACADSNM_000017.2: c.1084C> TSNVLikely pathogenicChr na, -1: -1
10ACADSNM_000017.2: c.315delCdeletionLikely pathogenicChr na, -1: -1
11ACADSNM_000017.2: c.1164_1165delTGdeletionLikely pathogenicChr na, -1: -1
12ACADSNM_000017.2: c.675dupGduplicationLikely pathogenicChr na, -1: -1
13ACADSNM_000017.2: c.369C> GSNVLikely pathogenicChr na, -1: -1
14ACADSNM_000017.2: c.211-1G> ASNVLikely pathogenicChr na, -1: -1
15ACADSNM_000017.2: c.417G> ASNVLikely pathogenicChr na, -1: -1
16ACADSNM_000017.2: c.910dupCduplicationLikely pathogenicChr na, -1: -1
17ACADSNM_000017.2: c.1029+1G> ASNVLikely pathogenicChr na, -1: -1
18ACADSNM_000017.2: c.593_594delTTdeletionLikely pathogenicChr na, -1: -1
19ACADSNM_000017.2: c.125_135del11deletionLikely pathogenicChr na, -1: -1
20ACADSNM_000017.2: c.527C> ASNVLikely pathogenicChr na, -1: -1
21ACADSNM_000017.2: c.32delGdeletionLikely pathogenicChr na, -1: -1
22ACADSNM_000017.2: c.1031delAdeletionLikely pathogenicChr na, -1: -1
23ACADSNM_000017.3(ACADS): c.136C> T (p.Arg46Trp)SNVLikely pathogenic, Pathogenicrs121908003GRCh37Chr 12, 121164918: 121164918
24ACADSNM_000017.3(ACADS): c.319C> T (p.Arg107Cys)SNVPathogenicrs61732144GRCh37Chr 12, 121174897: 121174897
25ACADSNM_000017.3(ACADS): c.274G> T (p.Gly92Cys)SNVPathogenicrs121908004GRCh37Chr 12, 121174852: 121174852
26ACADSNM_000017.3(ACADS): c.529T> C (p.Trp177Arg)SNVLikely pathogenic, Pathogenicrs57443665GRCh37Chr 12, 121175696: 121175696
27ACADSNM_000017.3(ACADS): c.1147C> T (p.Arg383Cys)SNVPathogenicrs28940872GRCh37Chr 12, 121177159: 121177159
28ACADSNM_000017.3(ACADS): c.511C> T (p.Arg171Trp)SNVLikely pathogenic, Pathogenicrs1800556GRCh37Chr 12, 121175678: 121175678
29ACADSNM_000017.3(ACADS): c.625G> A (p.Gly209Ser)SNVLikely pathogenic, Pathogenicrs1799958GRCh37Chr 12, 121176083: 121176083
30ACADSNM_000017.3(ACADS): c.268G> A (p.Gly90Ser)SNVPathogenicrs121908005GRCh37Chr 12, 121174846: 121174846
31ACADSNM_000017.3(ACADS): c.310_312delGAG (p.Glu104del)deletionPathogenicrs387906308GRCh37Chr 12, 121174888: 121174890
32ACADSNM_000017.3(ACADS): c.575C> T (p.Ala192Val)SNVPathogenicrs28940874GRCh37Chr 12, 121175742: 121175742
33ACADSNM_000017.3(ACADS): c.973C> T (p.Arg325Trp)SNVPathogenicrs121908006GRCh37Chr 12, 121176662: 121176662
34ACADSNM_000017.3(ACADS): c.1058C> T (p.Ser353Leu)SNVPathogenicrs28941773GRCh37Chr 12, 121176971: 121176971
35ACADSNM_000017.3(ACADS): c.1138C> T (p.Arg380Trp)SNVLikely 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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Cellular components related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.1ACADM, ACADS

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.6ACADM, ACADS
2lipid homeostasisGO:00550889.4ACADM, ACADS
3response to starvationGO:00425949.1ACADM, ACADS
4fatty acid beta-oxidationGO:00066358.8ACADM, ACADS

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

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:00039959.6ACADM, ACADS
2fatty-acyl-CoA bindingGO:00000629.6ACADM, ACADS
3flavin adenine dinucleotide bindingGO:00506609.1ACADM, ACADS
4electron carrier activityGO:00090559.0ACADM, ACADS

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet