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

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

Name: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 13
Scad Deficiency 23 50 24 25 56 66 52
Short Chain Acyl-Coa Dehydrogenase Deficiency 12 24 56 14
Acads Deficiency 50 25 56 66
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 50 25 66
Short-Chain Acyl-Coa Dehydrogenase Deficiency 23 50 25
Deficiency of Butyryl-Coa Dehydrogenase 25 29 69
Scadh Deficiency 50 25 66
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 50 25
Acyl-Coa Dehydrogenase Short-Chain Deficiency 66
Acadsd 66
Scadd 56

Characteristics:

Orphanet epidemiological data:

56
short chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal;

HPO:

32
acyl-coa dehydrogenase, short-chain, deficiency of:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:



External Ids:

OMIM 54 201470
Disease Ontology 12 DOID:0080154
Orphanet 56 ORPHA26792
MESH via Orphanet 43 C537596
ICD10 via Orphanet 34 E71.3
MedGen 40 C0342783
MeSH 42 D008052

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

NIH Rare Diseases : 50 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 seizures, lethargy and muscular hypotonia. 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/superpathways are Metabolism and Carbon metabolism. Related phenotype is liver/biliary system.

Disease Ontology : 12 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 : 54 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are... (201470) more...

UniProtKB/Swiss-Prot : 66 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: NBK63582

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

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 & Phenotypes for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Symptoms by clinical synopsis from OMIM:

201470

Clinical features from OMIM:

201470

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 lethargy 32 HP:0001254
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 scoliosis 32 HP:0002650
6 facial palsy 32 HP:0010628
7 global developmental delay 32 HP:0001263
8 delayed speech and language development 32 HP:0000750
9 flexion contracture 32 HP:0001371
10 feeding difficulties in infancy 32 HP:0008872
11 myopathy 32 HP:0003198
12 cardiomyopathy 32 HP:0001638
13 psychosis 32 HP:0000709
14 external ophthalmoplegia 32 HP:0000544
15 abnormality of the cerebral white matter 32 HP:0002500
16 ethylmalonic aciduria 32 HP:0003219
17 episodic metabolic acidosis 32 HP:0004911

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 ACAD8 ACADM ACADS SLC25A13

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

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

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

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

id Genetic test Affiliating Genes
1 Deficiency of Butyryl-Coa Dehydrogenase 29
2 Short Chain Acyl-Coa Dehydrogenase Deficiency 24 ACADS

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 ACADS p.Arg46Trp VAR_000310 rs121908003
2 ACADS p.Gly92Cys VAR_000311 rs121908004
3 ACADS p.Arg107Cys VAR_000312 rs61732144
4 ACADS p.Trp177Arg VAR_000314 rs57443665
5 ACADS p.Arg383Cys VAR_000316 rs28940872
6 ACADS p.Gly90Ser VAR_013565 rs121908005
7 ACADS p.Ala192Val VAR_013568 rs28940874
8 ACADS p.Arg325Trp VAR_013569 rs121908006
9 ACADS p.Ser353Leu VAR_013570 rs28941773
10 ACADS p.Arg380Trp VAR_013571 rs28940875

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

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 ACADS NM_000017.3(ACADS): c.136C> T (p.Arg46Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908003 GRCh37 Chromosome 12, 121164918: 121164918
2 ACADS NM_000017.3(ACADS): c.319C> T (p.Arg107Cys) single nucleotide variant Pathogenic rs61732144 GRCh37 Chromosome 12, 121174897: 121174897
3 ACADS NM_000017.3(ACADS): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs121908004 GRCh37 Chromosome 12, 121174852: 121174852
4 ACADS NM_000017.3(ACADS): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57443665 GRCh37 Chromosome 12, 121175696: 121175696
5 ACADS NM_000017.3(ACADS): c.1147C> T (p.Arg383Cys) single nucleotide variant Pathogenic rs28940872 GRCh37 Chromosome 12, 121177159: 121177159
6 ACADS NM_000017.3(ACADS): c.268G> A (p.Gly90Ser) single nucleotide variant Pathogenic rs121908005 GRCh37 Chromosome 12, 121174846: 121174846
7 ACADS NM_000017.3(ACADS): c.310_312delGAG (p.Glu104del) deletion Pathogenic rs387906308 GRCh37 Chromosome 12, 121174888: 121174890
8 ACADS NM_000017.3(ACADS): c.575C> T (p.Ala192Val) single nucleotide variant Pathogenic rs28940874 GRCh37 Chromosome 12, 121175742: 121175742
9 ACADS NM_000017.3(ACADS): c.973C> T (p.Arg325Trp) single nucleotide variant Pathogenic rs121908006 GRCh37 Chromosome 12, 121176662: 121176662
10 ACADS NM_000017.3(ACADS): c.1058C> T (p.Ser353Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28941773 GRCh37 Chromosome 12, 121176971: 121176971
11 ACADS NM_000017.3(ACADS): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28940875 GRCh37 Chromosome 12, 121177150: 121177150
12 ACADS NM_000017.3(ACADS): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic rs147442301 GRCh37 Chromosome 12, 121164946: 121164946
13 ACADS NM_000017.3(ACADS): c.1031A> G (p.Glu344Gly) single nucleotide variant Pathogenic/Likely pathogenic rs387906950 GRCh37 Chromosome 12, 121176944: 121176944
14 ACADS NM_000017.3(ACADS): c.323G> A (p.Gly108Asp) single nucleotide variant Pathogenic rs387906951 GRCh37 Chromosome 12, 121174901: 121174901
15 ACADS NM_000017.3(ACADS): c.409C> T (p.Gln137Ter) single nucleotide variant Likely pathogenic rs752677472 GRCh38 Chromosome 12, 120737404: 120737404
16 ACADS NM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs) deletion Pathogenic/Likely pathogenic rs786204691 GRCh37 Chromosome 12, 121176140: 121176141
17 ACADS NM_000017.3(ACADS): c.1095G> T (p.Gln365His) single nucleotide variant Pathogenic/Likely pathogenic rs368469075 GRCh37 Chromosome 12, 121177107: 121177107
18 ACADS NM_000017.3(ACADS): c.32delG (p.Gly11Alafs) deletion Likely pathogenic rs1057516967 GRCh37 Chromosome 12, 121163720: 121163720
19 ACADS NM_000017.3(ACADS): c.125_135delTCCAGACATGC (p.Leu42Profs) deletion Likely pathogenic rs1057516733 GRCh38 Chromosome 12, 120727104: 120727114
20 ACADS NM_000017.3(ACADS): c.211-1G> A single nucleotide variant Likely pathogenic rs1057516566 GRCh37 Chromosome 12, 121174788: 121174788
21 ACADS NM_000017.3(ACADS): c.315delC (p.Ser106Alafs) deletion Likely pathogenic rs1057516385 GRCh37 Chromosome 12, 121174893: 121174893
22 ACADS NM_000017.3(ACADS): c.369C> G (p.Tyr123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749491616 GRCh37 Chromosome 12, 121175167: 121175167
23 ACADS NM_000017.3(ACADS): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs149107232 GRCh37 Chromosome 12, 121175215: 121175215
24 ACADS NM_000017.3(ACADS): c.473-2A> G single nucleotide variant Likely pathogenic rs1057516231 GRCh37 Chromosome 12, 121175638: 121175638
25 ACADS NM_000017.3(ACADS): c.527C> A (p.Ser176Ter) single nucleotide variant Likely pathogenic rs1057516848 GRCh38 Chromosome 12, 120737891: 120737891
26 ACADS NM_000017.3(ACADS): c.593_594delTT (p.Phe198Cysfs) deletion Likely pathogenic rs1057516685 GRCh37 Chromosome 12, 121175760: 121175761
27 ACADS NM_000017.3(ACADS): c.675dupG (p.Lys226Glufs) duplication Likely pathogenic rs1057516436 GRCh37 Chromosome 12, 121176133: 121176133
28 ACADS NM_000017.3(ACADS): c.910dupC (p.Leu304Profs) duplication Likely pathogenic rs1057516606 GRCh38 Chromosome 12, 120738647: 120738647
29 ACADS NM_000017.3(ACADS): c.1029+1G> A single nucleotide variant Likely pathogenic rs1057516639 GRCh38 Chromosome 12, 120738916: 120738916
30 ACADS NM_000017.3(ACADS): c.1031delA (p.Glu344Glyfs) deletion Likely pathogenic rs1057517155 GRCh38 Chromosome 12, 120739141: 120739141
31 ACADS NM_000017.3(ACADS): c.1084C> T (p.Gln362Ter) single nucleotide variant Likely pathogenic rs541587321 GRCh37 Chromosome 12, 121176997: 121176997
32 ACADS NM_000017.3(ACADS): c.1164_1165delTG (p.Glu389Aspfs) deletion Likely pathogenic rs1057516421 GRCh38 Chromosome 12, 120739373: 120739374

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

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

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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 ACAD8 ACADM ACADS ACADSB SLC25A13
2
Show member pathways
11.69 ACADM ACADS
3
Show member pathways
11.1 ACADM ACADS ACADSB
4
Show member pathways
11.08 ACADM ACADS
5
Show member pathways
11 ACAD8 ACADM ACADS ACADSB
6
Show member pathways
10.88 ACADM ACADS

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

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 ACAD8 ACADM ACADS ACADSB SLC25A13
2 mitochondrial matrix GO:0005759 8.92 ACAD8 ACADM ACADS ACADSB

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 ACAD8 ACADM ACADS ACADSB
2 fatty acid beta-oxidation GO:0006635 9.37 ACADM ACADS
3 fatty acid metabolic process GO:0006631 9.33 ACADM ACADS ACADSB
4 branched-chain amino acid catabolic process GO:0009083 9.32 ACAD8 ACADSB
5 lipid metabolic process GO:0006629 9.26 ACAD8 ACADM ACADS ACADSB
6 metabolic process GO:0008152 8.92 ACAD8 ACADM ACADS ACADSB

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 ACAD8 ACADM ACADS ACADSB
2 flavin adenine dinucleotide binding GO:0050660 9.46 ACAD8 ACADM ACADS ACADSB
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACAD8 ACADM ACADS ACADSB
4 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACAD8 ACADM ACADS ACADSB

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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