ACADSD
MCID: ACY005
MIFTS: 48

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of (ACADSD)

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

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

MalaCards integrated aliases for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

Name: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 58 13
Scad Deficiency 58 77 25 54 26 60 76 38 56
Acads Deficiency 58 54 26 60 76
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 58 54 26 76
Short-Chain Acyl-Coa Dehydrogenase Deficiency 77 25 54 26
Deficiency of Butyryl-Coa Dehydrogenase 26 30 6 74
Scadh Deficiency 58 54 26 76
Short Chain Acyl-Coa Dehydrogenase Deficiency 12 60 15
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 54 26
Acadsd 58 76
Scadd 25 60
Acyl-Coa Dehydrogenase, Short Chain, Deficiency of 77
Acyl-Coa Dehydrogenase Short-Chain Deficiency 76
Butyryl-Coa Dehydrogenase Deficiency 41

Characteristics:

Orphanet epidemiological data:

60
short chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset birth to early childhood
highly variable phenotype, ranging from asymptomatic to severe


HPO:

33
acyl-coa dehydrogenase, short-chain, deficiency of:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 54 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).

MalaCards based summary : Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and myopathy, and has symptoms including seizures, muscle weakness and lethargy. An important gene associated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of is ACADS (Acyl-CoA Dehydrogenase Short Chain), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. Affiliated tissues include brain, and related phenotypes are progressive external ophthalmoplegia and seizures

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 : 26 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 : 58 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by Shirao et al., 2010). (201470)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), also called ACADS deficiency and SCAD... more...

GeneReviews: NBK63582

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

Diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 32.0 ACADS ACADVL CPT2 HADH HADHA SLC25A13
2 myopathy 10.4
3 citrullinemia, classic 10.3 ACADS SLC25A13
4 isovaleric acidemia 10.3 ACAD8 ACADS
5 urea cycle disorder 10.3 ACADS SLC25A13
6 classic phenylketonuria 10.3 PAH PTS
7 fatty liver disease 10.3
8 mild hyperphenylalaninemia 10.3 PAH PTS
9 encephalopathy, ethylmalonic 10.3
10 scoliosis 10.3
11 epilepsy 10.3
12 axonal neuropathy 10.3
13 muscular atrophy 10.3
14 neuropathy 10.3
15 microcephaly 10.3
16 encephalopathy 10.3
17 myoglobinuria, recurrent 10.2 ACADVL CPT2
18 carnitine deficiency, systemic primary 10.2 ACADVL CPT2
19 reye syndrome 10.2 ACADM HADHA
20 hyperphenylalaninemia, bh4-deficient, a 10.2 PAH PTS SLC25A13
21 dyskinetic cerebral palsy 10.1 PTS SIX3
22 carnitine palmitoyltransferase ii deficiency, infantile 10.1 ACADVL CPT2
23 tetrahydrobiopterin deficiency 10.1 PAH PTS
24 holocarboxylase synthetase deficiency 10.1 HADH MMD SLC25A13
25 riboflavin deficiency 10.0 ACADS ETFA
26 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 ACADM ACADVL HADH HADHA
27 west syndrome 10.0
28 multiple acyl-coa dehydrogenase deficiency 10.0 ACADS ACADVL CPT2 ETFA
29 hypoglycemia 10.0 ACADM ACADVL CPT2 HADH
30 phenylketonuria 10.0 ACADM HADHA PAH PTS
31 hyperinsulinemic hypoglycemia, familial, 6 10.0 HADH HADHA WDTC1
32 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 ACAD8 ACADM ACADS ACADVL HADHA
33 carnitine palmitoyltransferase i deficiency 9.9 ACADVL CPT2 HADH HADHA
34 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 ACADM ACADVL HADH HADHA PAH

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

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

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 progressive external ophthalmoplegia 33 occasional (7.5%) HP:0000590
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 failure to thrive 33 HP:0001508
5 scoliosis 33 HP:0002650
6 facial palsy 33 HP:0010628
7 global developmental delay 33 HP:0001263
8 delayed speech and language development 33 HP:0000750
9 flexion contracture 33 HP:0001371
10 feeding difficulties in infancy 33 HP:0008872
11 myopathy 33 HP:0003198
12 cardiomyopathy 33 HP:0001638
13 psychosis 33 HP:0000709
14 lethargy 33 HP:0001254
15 generalized hypotonia 33 HP:0001290
16 abnormality of the cerebral white matter 33 HP:0002500
17 ethylmalonic aciduria 33 HP:0003219
18 episodic metabolic acidosis 33 HP:0004911

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
lethargy
developmental delay
hypotonia
speech delay
more
Skeletal Spine:
scoliosis

Laboratory Abnormalities:
ethylmalonic aciduria
methylsuccinic aciduria
decreased scad activity
increased serum acyl carnitines
increased serum butyryl carnitine

Skeletal:
contractures

Head And Neck Eyes:
external ophthalmoplegia, progressive (rare)

Neurologic Behavioral Psychiatric Manifestations:
psychosis (rare)

Muscle Soft Tissue:
muscle weakness
myopathy
hypotonia
multiminicore myopathy
lipid storage myopathy

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Face:
facial muscle weakness

Growth Other:
chronic failure to thrive

Cardiovascular Heart:
cardiomyopathy (rare)

Metabolic Features:
acute metabolic decompensation
metabolic acidosis, episodic

Clinical features from OMIM:

201470

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


seizures, muscle weakness, lethargy, facial paresis

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACAD8 ACADM ACADS ACADVL AK4 ALDH4A1

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ACAD8 ACADM ACADS ACADVL CPT2 HADH
2 mortality/aging MP:0010768 9.73 ACADM ACADS ACADVL CBY1 CPT2 HADHA
3 liver/biliary system MP:0005370 9.7 ACAD8 ACADM ACADS ACADVL HADHA SLC25A13
4 renal/urinary system MP:0005367 9.23 ACAD8 ACADS HADH HADHA NOX4 PAH

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:

# Genetic test Affiliating Genes
1 Deficiency of Butyryl-Coa Dehydrogenase 30 ACADS

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

MalaCards organs/tissues related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

42
Brain

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

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

(show all 12)
# Title Authors Year
1
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. ( 29678161 )
2018
2
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation. ( 27051597 )
2016
3
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. ( 20376488 )
2010
4
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. ( 18054510 )
2008
5
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. ( 18676165 )
2008
6
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. ( 18523805 )
2008
7
Brain malformation and infantile spasms in a SCAD deficiency patient. ( 17162197 )
2007
8
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. ( 14506246 )
2003
9
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. ( 11134486 )
2001
10
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. ( 9499414 )
1998
11
[Short-chain acyl-CoA dehydrogenase (SCAD) deficiency]. ( 9590088 )
1998
12
Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. ( 2808706 )
1989

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

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

76
# 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 top 50) (show all 248)
# 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.136C> T (p.Arg46Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908003 GRCh38 Chromosome 12, 120727115: 120727115
3 ACADS NM_000017.3(ACADS): c.319C> T (p.Arg107Cys) single nucleotide variant Pathogenic rs61732144 GRCh37 Chromosome 12, 121174897: 121174897
4 ACADS NM_000017.3(ACADS): c.319C> T (p.Arg107Cys) single nucleotide variant Pathogenic rs61732144 GRCh38 Chromosome 12, 120737094: 120737094
5 ACADS NM_000017.3(ACADS): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs121908004 GRCh37 Chromosome 12, 121174852: 121174852
6 ACADS NM_000017.3(ACADS): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs121908004 GRCh38 Chromosome 12, 120737049: 120737049
7 ACADS NM_000017.3(ACADS): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57443665 GRCh37 Chromosome 12, 121175696: 121175696
8 ACADS NM_000017.3(ACADS): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57443665 GRCh38 Chromosome 12, 120737893: 120737893
9 ACADS NM_000017.3(ACADS): c.1147C> T (p.Arg383Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940872 GRCh37 Chromosome 12, 121177159: 121177159
10 ACADS NM_000017.3(ACADS): c.1147C> T (p.Arg383Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940872 GRCh38 Chromosome 12, 120739356: 120739356
11 ACADS NM_000017.3(ACADS): c.511C> T (p.Arg171Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800556 GRCh37 Chromosome 12, 121175678: 121175678
12 ACADS NM_000017.3(ACADS): c.511C> T (p.Arg171Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800556 GRCh38 Chromosome 12, 120737875: 120737875
13 ACADS NM_000017.3(ACADS): c.625G> A (p.Gly209Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799958 GRCh37 Chromosome 12, 121176083: 121176083
14 ACADS NM_000017.3(ACADS): c.625G> A (p.Gly209Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799958 GRCh38 Chromosome 12, 120738280: 120738280
15 ACADS NM_000017.3(ACADS): c.268G> A (p.Gly90Ser) single nucleotide variant Uncertain significance rs121908005 GRCh37 Chromosome 12, 121174846: 121174846
16 ACADS NM_000017.3(ACADS): c.268G> A (p.Gly90Ser) single nucleotide variant Uncertain significance rs121908005 GRCh38 Chromosome 12, 120737043: 120737043
17 ACADS NM_000017.3(ACADS): c.310_312delGAG (p.Glu104del) deletion Pathogenic/Likely pathogenic rs387906308 GRCh37 Chromosome 12, 121174888: 121174890
18 ACADS NM_000017.3(ACADS): c.310_312delGAG (p.Glu104del) deletion Pathogenic/Likely pathogenic rs387906308 GRCh38 Chromosome 12, 120737085: 120737087
19 ACADS NM_000017.3(ACADS): c.575C> T (p.Ala192Val) single nucleotide variant Uncertain significance rs28940874 GRCh37 Chromosome 12, 121175742: 121175742
20 ACADS NM_000017.3(ACADS): c.575C> T (p.Ala192Val) single nucleotide variant Uncertain significance rs28940874 GRCh38 Chromosome 12, 120737939: 120737939
21 ACADS NM_000017.3(ACADS): c.973C> T (p.Arg325Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121908006 GRCh37 Chromosome 12, 121176662: 121176662
22 ACADS NM_000017.3(ACADS): c.973C> T (p.Arg325Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121908006 GRCh38 Chromosome 12, 120738859: 120738859
23 ACADS NM_000017.3(ACADS): c.1058C> T (p.Ser353Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28941773 GRCh37 Chromosome 12, 121176971: 121176971
24 ACADS NM_000017.3(ACADS): c.1058C> T (p.Ser353Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28941773 GRCh38 Chromosome 12, 120739168: 120739168
25 ACADS NM_000017.3(ACADS): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28940875 GRCh37 Chromosome 12, 121177150: 121177150
26 ACADS NM_000017.3(ACADS): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28940875 GRCh38 Chromosome 12, 120739347: 120739347
27 ACADS NM_000017.3(ACADS): c.164C> T (p.Pro55Leu) single nucleotide variant Likely pathogenic rs147442301 GRCh37 Chromosome 12, 121164946: 121164946
28 ACADS NM_000017.3(ACADS): c.164C> T (p.Pro55Leu) single nucleotide variant Likely pathogenic rs147442301 GRCh38 Chromosome 12, 120727143: 120727143
29 ACADS NM_000017.3(ACADS): c.1031A> G (p.Glu344Gly) single nucleotide variant Pathogenic/Likely pathogenic rs387906950 GRCh37 Chromosome 12, 121176944: 121176944
30 ACADS NM_000017.3(ACADS): c.1031A> G (p.Glu344Gly) single nucleotide variant Pathogenic/Likely pathogenic rs387906950 GRCh38 Chromosome 12, 120739141: 120739141
31 ACADS NM_000017.3(ACADS): c.323G> A (p.Gly108Asp) single nucleotide variant Uncertain significance rs387906951 GRCh37 Chromosome 12, 121174901: 121174901
32 ACADS NM_000017.3(ACADS): c.323G> A (p.Gly108Asp) single nucleotide variant Uncertain significance rs387906951 GRCh38 Chromosome 12, 120737098: 120737098
33 ACADS NM_000017.3(ACADS): c.321T> C (p.Arg107=) single nucleotide variant Benign rs3914 GRCh37 Chromosome 12, 121174899: 121174899
34 ACADS NM_000017.3(ACADS): c.321T> C (p.Arg107=) single nucleotide variant Benign rs3914 GRCh38 Chromosome 12, 120737096: 120737096
35 ACADS NM_000017.3(ACADS): c.990C> T (p.Arg330=) single nucleotide variant Benign rs3915 GRCh37 Chromosome 12, 121176679: 121176679
36 ACADS NM_000017.3(ACADS): c.990C> T (p.Arg330=) single nucleotide variant Benign rs3915 GRCh38 Chromosome 12, 120738876: 120738876
37 ACADS NM_000017.3(ACADS): c.409C> T (p.Gln137Ter) single nucleotide variant Likely pathogenic rs752677472 GRCh38 Chromosome 12, 120737404: 120737404
38 ACADS NM_000017.3(ACADS): c.409C> T (p.Gln137Ter) single nucleotide variant Likely pathogenic rs752677472 GRCh37 Chromosome 12, 121175207: 121175207
39 ACADS NM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs) deletion Pathogenic/Likely pathogenic rs786204691 GRCh37 Chromosome 12, 121176140: 121176141
40 ACADS NM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs) deletion Pathogenic/Likely pathogenic rs786204691 GRCh38 Chromosome 12, 120738337: 120738338
41 ACADS NM_000017.3(ACADS): c.*5G> A single nucleotide variant Benign/Likely benign rs2229533 GRCh37 Chromosome 12, 121177256: 121177256
42 ACADS NM_000017.3(ACADS): c.*5G> A single nucleotide variant Benign/Likely benign rs2229533 GRCh38 Chromosome 12, 120739453: 120739453
43 ACADS NM_000017.3(ACADS): c.360C> T (p.Asn120=) single nucleotide variant Benign/Likely benign rs76543640 GRCh37 Chromosome 12, 121174938: 121174938
44 ACADS NM_000017.3(ACADS): c.360C> T (p.Asn120=) single nucleotide variant Benign/Likely benign rs76543640 GRCh38 Chromosome 12, 120737135: 120737135
45 ACADS NM_000017.3(ACADS): c.423G> A (p.Thr141=) single nucleotide variant Benign/Likely benign rs2239686 GRCh37 Chromosome 12, 121175221: 121175221
46 ACADS NM_000017.3(ACADS): c.423G> A (p.Thr141=) single nucleotide variant Benign/Likely benign rs2239686 GRCh38 Chromosome 12, 120737418: 120737418
47 ACADS NM_000017.2(ACADS): c.815G> A (p.Arg272His) single nucleotide variant Conflicting interpretations of pathogenicity rs374726386 GRCh38 Chromosome 12, 120738552: 120738552
48 ACADS NM_000017.2(ACADS): c.815G> A (p.Arg272His) single nucleotide variant Conflicting interpretations of pathogenicity rs374726386 GRCh37 Chromosome 12, 121176355: 121176355
49 ACADS NM_000017.2(ACADS): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs140853839 GRCh37 Chromosome 12, 121176677: 121176677
50 ACADS NM_000017.2(ACADS): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs140853839 GRCh38 Chromosome 12, 120738874: 120738874

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 KEGG:

38
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ACAD8 ACADM ACADS ACADVL AK4 ALDH4A1
2
Show member pathways
12.65 ACADM ACADS ACADVL CPT2 HADH HADHA
3
Show member pathways
12.08 ACADM ACADS HADHA PAH
4 11.9 ACADM HADHA PAH
5
Show member pathways
11.73 ACAD8 ACADM ACADS HADH HADHA
6
Show member pathways
11.42 ACADM ACADS ACADVL CPT2 HADH HADHA
7
Show member pathways
11.37 ACADM ACADS ACADVL HADH HADHA
8 11.25 ACADM ACADVL HADH
9
Show member pathways
11.12 ACADS HADH HADHA
10 11.03 ACADM HADHA
11
Show member pathways
10.96 PAH PTS
12 10.89 ACADM CPT2
13
Show member pathways
10.82 ACADM ACADS ACADVL CPT2 HADH HADHA

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 ACAD8 ACADM ACADS ACADVL AK4 ALDH4A1
2 mitochondrial inner membrane GO:0005743 9.55 ACADVL CPT2 HADHA SLC25A10 SLC25A13
3 mitochondrion GO:0005739 9.47 ACAD8 ACADM ACADS ACADVL AK4 ALDH4A1
4 mitochondrial membrane GO:0031966 9.43 ACADM ACADVL SLC25A10

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.87 ACAD8 ACADM ACADS ACADVL CPT2 HADH
2 fatty acid metabolic process GO:0006631 9.73 ACADM ACADS ACADVL CPT2 HADH HADHA
3 oxidation-reduction process GO:0055114 9.65 ACAD8 ACADM ACADS ACADVL ALDH4A1 ETFA
4 electron transport chain GO:0022900 9.58 ALDH4A1 ETFA NOX4
5 cardiac muscle cell differentiation GO:0055007 9.54 ACADM CBY1 NOX4
6 mitochondrial transport GO:0006839 9.46 SLC25A10 SLC25A13
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.46 ACADM ACADS ACADVL ETFA
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.43 ACADVL WDTC1
9 fatty acid beta-oxidation GO:0006635 9.1 ACADM ACADS ACADVL CPT2 HADH HADHA

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 ACADM ALDH4A1 CBY1 PTS SLC25A13 TBK1
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.56 ACAD8 ACADM ACADS ACADVL
3 electron transfer activity GO:0009055 9.54 ALDH4A1 ETFA NOX4
4 acyl-CoA dehydrogenase activity GO:0003995 9.46 ACAD8 ACADM ACADS ACADVL
5 flavin adenine dinucleotide binding GO:0050660 9.43 ACAD8 ACADM ACADS ACADVL ETFA NOX4
6 fatty-acyl-CoA binding GO:0000062 9.4 ACADVL HADHA
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.32 HADH HADHA
8 oxidoreductase activity GO:0016491 9.32 ACAD8 ACADM ACADS ACADVL ALDH4A1 ETFA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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