MCID: ACY005
MIFTS: 37

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 50 12
Scad Deficiency 22 46 23 24 52 68 48
Acads Deficiency 46 24 52 68
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 46 24 68
Short Chain Acyl-Coa Dehydrogenase Deficiency 11 23 52
Short-Chain Acyl-Coa Dehydrogenase Deficiency 22 46 24
 
Deficiency of Butyryl-Coa Dehydrogenase 24 25 66
Scadh Deficiency 46 24 68
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 46 24
Acyl-Coa Dehydrogenase Short-Chain Deficiency 68
Acadsd 68
Scadd 52

Characteristics:

Orphanet epidemiological data:

52
scad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal

HPO:

62
acyl-coa dehydrogenase, short-chain, deficiency of:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset


Classifications:



External Ids:

OMIM50 201470
Disease Ontology11 DOID:0080154
Orphanet52 ORPHA26792
ICD10 via Orphanet29 E71.3
MESH via Orphanet38 C537596
MedGen35 C0342783
MeSH37 D008052

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

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NIH Rare Diseases:46 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 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.

UniProtKB/Swiss-Prot:68 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:24 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:50 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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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 deficiency10.5
2myopathy10.3
3hepatitis10.2
4scoliosis10.2
5epilepsy10.2
6cerebritis10.2
7axonal neuropathy10.2
8neuronitis10.2
9neuropathy10.2
10deafness, autosomal dominant 259.6ACADM, ACADS
11acyl-coa dehydrogenase, medium chain, deficiency of9.5ACADM, ACADS
12fatal infantile encephalocardiomyopathy9.5ACADM, ACADS
13fga-related congenital afibrinogenemia9.4ACADM, ACADS
14dyskeratosis congenita, autosomal recessive 19.2ACADM, 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

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

(show all 17)
id Description Frequency HPO Source Accession
1 external ophthalmoplegia HP:0000544
2 psychosis HP:0000709
3 delayed speech and language development HP:0000750
4 seizures HP:0001250
5 muscular hypotonia HP:0001252
6 lethargy HP:0001254
7 global developmental delay HP:0001263
8 flexion contracture HP:0001371
9 failure to thrive HP:0001508
10 cardiomyopathy HP:0001638
11 abnormality of the cerebral white matter HP:0002500
12 scoliosis HP:0002650
13 myopathy HP:0003198
14 ethylmalonic aciduria HP:0003219
15 episodic metabolic acidosis HP:0004911
16 feeding difficulties in infancy HP:0008872
17 facial palsy 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 Dehydrogenase25
2 Short Chain Acyl-Coa Dehydrogenase Deficiency23 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:

68
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 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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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:00550889.3ACADM, ACADS
3response to starvationGO:00425949.1ACADM, ACADS
4fatty acid beta-oxidationGO:00066359.0ACADM, 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:00039959.7ACADM, ACADS
2fatty-acyl-CoA bindingGO:00000629.5ACADM, ACADS
3flavin adenine dinucleotide bindingGO:00506609.1ACADM, ACADS
4electron carrier activityGO:00090558.8ACADM, ACADS

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet