ACADSD
MCID: ACY005
MIFTS: 39

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of (ACADSD) 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 52 12
Scad Deficiency 23 48 24 25 54 70 50
Short Chain Acyl-Coa Dehydrogenase Deficiency 11 24 54 13
Acads Deficiency 48 25 54 70
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 48 25 70
Short-Chain Acyl-Coa Dehydrogenase Deficiency 23 48 25
 
Deficiency of Butyryl-Coa Dehydrogenase 25 27 68
Scadh Deficiency 48 25 70
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 48 25
Acyl-Coa Dehydrogenase Short-Chain Deficiency 70
Acadsd 70
Scadd 54

Characteristics:

Orphanet epidemiological data:

54
scad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal

HPO:

64
acyl-coa dehydrogenase, short-chain, deficiency of:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset

Classifications:



External Ids:

OMIM52 201470
Disease Ontology11 DOID:0080154
Orphanet54 ORPHA26792
MESH via Orphanet40 C537596
ICD10 via Orphanet31 E71.3
MedGen37 C0342783
MeSH39 D008052

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

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NIH Rare Diseases:48 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 lethargy, lethargy and seizures. 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 Mitochondrial Fatty Acid Beta-Oxidation. Related mouse phenotype liver/biliary system.

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

UniProtKB/Swiss-Prot:70 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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Graphical network of diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:



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

Symptoms & Phenotypes 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:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 external ophthalmoplegia64 HP:0000544
2 psychosis64 HP:0000709
3 delayed speech and language development64 HP:0000750
4 seizures64 HP:0001250
5 muscular hypotonia64 HP:0001252
6 lethargy64 HP:0001254
7 global developmental delay64 HP:0001263
8 flexion contracture64 HP:0001371
9 failure to thrive64 HP:0001508
10 cardiomyopathy64 HP:0001638
11 abnormality of the cerebral white matter64 HP:0002500
12 scoliosis64 HP:0002650
13 myopathy64 HP:0003198
14 ethylmalonic aciduria64 HP:0003219
15 episodic metabolic acidosis64 HP:0004911
16 feeding difficulties in infancy64 HP:0008872
17 facial palsy64 HP:0010628

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


lethargy, seizures, muscle weakness, facial paresis

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4ACAD8, ACADM, ACADS, SLC25A13

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 Dehydrogenase27
2 Short Chain Acyl-Coa Dehydrogenase Deficiency24 ACADS

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

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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:

70
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 32)
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)deletionPathogenic/ Likely pathogenicrs786204691GRCh37Chr 12, 121176140: 121176141
3ACADSNM_ 000017.3(ACADS): c.1095G> T (p.Gln365His)SNVPathogenic/ Likely pathogenicrs368469075GRCh37Chr 12, 121177107: 121177107
4ACADSNM_ 000017.3(ACADS): c.164C> T (p.Pro55Leu)SNVPathogenicrs147442301GRCh37Chr 12, 121164946: 121164946
5ACADSNM_ 000017.3(ACADS): c.1031A> G (p.Glu344Gly)SNVPathogenic/ Likely pathogenicrs387906950GRCh37Chr 12, 121176944: 121176944
6ACADSNM_ 000017.3(ACADS): c.323G> A (p.Gly108Asp)SNVPathogenicrs387906951GRCh37Chr 12, 121174901: 121174901
7ACADSNM_ 000017.3(ACADS): c.473-2A> GSNVLikely pathogenicrs1057516231GRCh37Chr 12, 121175638: 121175638
8ACADSNM_ 000017.3(ACADS): c.1084C> T (p.Gln362Ter)SNVLikely pathogenicrs541587321GRCh37Chr 12, 121176997: 121176997
9ACADSNM_ 000017.3(ACADS): c.315delC (p.Ser106Alafs)deletionLikely pathogenicrs1057516385GRCh37Chr 12, 121174893: 121174893
10ACADSNM_ 000017.3(ACADS): c.1164_ 1165delTG (p.Glu389Aspfs)deletionLikely pathogenicrs1057516421GRCh38Chr 12, 120739373: 120739374
11ACADSNM_ 000017.3(ACADS): c.675dupG (p.Lys226Glufs)duplicationLikely pathogenicrs1057516436GRCh37Chr 12, 121176133: 121176133
12ACADSNM_ 000017.3(ACADS): c.369C> G (p.Tyr123Ter)SNVPathogenic/ Likely pathogenicrs749491616GRCh37Chr 12, 121175167: 121175167
13ACADSNM_ 000017.3(ACADS): c.211-1G> ASNVLikely pathogenicrs1057516566GRCh37Chr 12, 121174788: 121174788
14ACADSNM_ 000017.3(ACADS): c.417G> A (p.Trp139Ter)SNVLikely pathogenicrs149107232GRCh37Chr 12, 121175215: 121175215
15ACADSNM_ 000017.3(ACADS): c.910dupC (p.Leu304Profs)duplicationLikely pathogenicrs1057516606GRCh38Chr 12, 120738647: 120738647
16ACADSNM_ 000017.3(ACADS): c.1029+1G> ASNVLikely pathogenicrs1057516639GRCh38Chr 12, 120738916: 120738916
17ACADSNM_ 000017.3(ACADS): c.593_ 594delTT (p.Phe198Cysfs)deletionLikely pathogenicrs1057516685GRCh37Chr 12, 121175760: 121175761
18ACADSNM_ 000017.3(ACADS): c.125_ 135delTCCAGACATGC (p.Leu42Profs)deletionLikely pathogenicrs1057516733GRCh38Chr 12, 120727104: 120727114
19ACADSNM_ 000017.3(ACADS): c.527C> A (p.Ser176Ter)SNVLikely pathogenicrs1057516848GRCh38Chr 12, 120737891: 120737891
20ACADSNM_ 000017.3(ACADS): c.32delG (p.Gly11Alafs)deletionLikely pathogenicrs1057516967GRCh37Chr 12, 121163720: 121163720
21ACADSNM_ 000017.3(ACADS): c.1031delA (p.Glu344Glyfs)deletionLikely pathogenicrs1057517155GRCh38Chr 12, 120739141: 120739141
22ACADSNM_ 000017.3(ACADS): c.136C> T (p.Arg46Trp)SNVPathogenic/ Likely pathogenicrs121908003GRCh37Chr 12, 121164918: 121164918
23ACADSNM_ 000017.3(ACADS): c.319C> T (p.Arg107Cys)SNVPathogenicrs61732144GRCh37Chr 12, 121174897: 121174897
24ACADSNM_ 000017.3(ACADS): c.274G> T (p.Gly92Cys)SNVPathogenicrs121908004GRCh37Chr 12, 121174852: 121174852
25ACADSNM_ 000017.3(ACADS): c.529T> C (p.Trp177Arg)SNVPathogenic/ Likely pathogenicrs57443665GRCh37Chr 12, 121175696: 121175696
26ACADSNM_ 000017.3(ACADS): c.1147C> T (p.Arg383Cys)SNVPathogenicrs28940872GRCh37Chr 12, 121177159: 121177159
27ACADSNM_ 000017.3(ACADS): c.268G> A (p.Gly90Ser)SNVPathogenicrs121908005GRCh37Chr 12, 121174846: 121174846
28ACADSNM_ 000017.3(ACADS): c.310_ 312delGAG (p.Glu104del)deletionPathogenicrs387906308GRCh37Chr 12, 121174888: 121174890
29ACADSNM_ 000017.3(ACADS): c.575C> T (p.Ala192Val)SNVPathogenicrs28940874GRCh37Chr 12, 121175742: 121175742
30ACADSNM_ 000017.3(ACADS): c.973C> T (p.Arg325Trp)SNVPathogenicrs121908006GRCh37Chr 12, 121176662: 121176662
31ACADSNM_ 000017.3(ACADS): c.1058C> T (p.Ser353Leu)SNVPathogenic/ Likely pathogenicrs28941773GRCh37Chr 12, 121176971: 121176971
32ACADSNM_ 000017.3(ACADS): c.1138C> T (p.Arg380Trp)SNVPathogenic/ Likely 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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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:00057598.8ACAD8, ACADM, ACADS, ACADSB
2mitochondrionGO:00057397.5ACAD8, ACADM, ACADS, ACADSB, SLC25A13

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:000663510.2ACADM, ACADS
2branched-chain amino acid catabolic processGO:00090839.8ACAD8, ACADSB
3fatty acid metabolic processGO:00066319.4ACADM, ACADS, ACADSB
4lipid metabolic processGO:00066298.8ACAD8, ACADM, ACADS, ACADSB
5metabolic processGO:00081528.7ACAD8, ACADM, ACADS, ACADSB
6oxidation-reduction processGO:00551148.1ACAD8, ACADM, ACADS, ACADSB

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:00039958.7ACAD8, ACADM, ACADS, ACADSB
2flavin adenine dinucleotide bindingGO:00506608.7ACAD8, ACADM, ACADS, ACADSB
3oxidoreductase activityGO:00164918.4ACAD8, ACADM, ACADS, ACADSB
4oxidoreductase activity, acting on the CH-CH group of donorsGO:00166278.1ACAD8, ACADM, ACADS, ACADSB

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

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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