ACADSD
MCID: ACY005
MIFTS: 54

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

Categories: Genetic diseases, Metabolic diseases, Muscle 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 57 13
Scad Deficiency 57 73 25 20 43 58 72 36 54
Acads Deficiency 57 20 43 58 72
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 57 20 43 72
Short-Chain Acyl-Coa Dehydrogenase Deficiency 73 25 20 43
Deficiency of Butyryl-Coa Dehydrogenase 43 29 6 70
Scadh Deficiency 57 20 43 72
Short Chain Acyl-Coa Dehydrogenase Deficiency 12 58 15
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 20 43
Acadsd 57 72
Scadd 25 58
Acyl-Coa Dehydrogenase, Short Chain, Deficiency of 73
Acyl-Coa Dehydrogenase Short-Chain Deficiency 72
Butyryl-Coa Dehydrogenase Deficiency 39

Characteristics:

Orphanet epidemiological data:

58
short chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
acyl-coa dehydrogenase, short-chain, deficiency of:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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

MedlinePlus Genetics : 43 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).Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly).The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting.The severity of this condition varies widely, even among members of the same family. Some individuals are diagnosed with SCAD deficiency based on laboratory testing but never develop any symptoms of the condition.

MalaCards based summary : Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to organic acidemia and muscular lipidosis, 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 liver, skeletal muscle and cortex, and related phenotypes are failure to thrive and feeding difficulties

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.

GARD : 20 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).

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting to hypotonia and seizures accompanied with developmental delay.

UniProtKB/Swiss-Prot : 72 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 : 73 Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), is an autosomal recessive fatty acid... 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 top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 organic acidemia 30.9 ACADS ACADM
2 muscular lipidosis 30.6 ETFDH ACADS
3 isobutyryl-coa dehydrogenase deficiency 30.5 ETFDH ACAD8
4 encephalopathy, ethylmalonic 30.4 ETHE1 ACADS ACAD8
5 hypoglycemia 30.2 HADHA HADH CPT2 ACADVL ACADM
6 abdominal obesity-metabolic syndrome 1 30.2 HADHA ETFDH ACADM
7 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.1 HADHA HADH ACADVL ACADM
8 encephalopathy 30.0 ETHE1 CPT2 ACADM
9 acyl-coa dehydrogenase deficiency 29.6 ETFDH ETFA ACADVL ACADSB ACADM
10 myopathy 29.6 HADHA ETFDH CPT2 ACADVL ACADS
11 acyl-coa dehydrogenase, very long-chain, deficiency of 28.7 MCCC1 HADHA HADH ETFDH ETFA CPT2
12 acyl-coa dehydrogenase, medium-chain, deficiency of 28.4 HADHA HADH ETFDH ETFA CPT2 ACADVL
13 hypotonia 10.8
14 inherited metabolic disorder 10.6
15 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
16 autosomal recessive disease 10.5
17 metabolic acidosis 10.4
18 scoliosis 10.4
19 fatty liver disease, nonalcoholic 1 10.3
20 non-alcoholic fatty liver disease 10.3
21 liver disease 10.3
22 placenta disease 10.3
23 cleft palate, isolated 10.3
24 galactosemia i 10.3
25 minicore myopathy with external ophthalmoplegia 10.3
26 ocular motor apraxia 10.3
27 kearns-sayre syndrome 10.3
28 anxiety 10.3
29 vitamin b12 deficiency 10.3
30 ptosis 10.3
31 microcephaly 10.3
32 bronchopneumonia 10.3
33 chronic progressive external ophthalmoplegia 10.3
34 hellp syndrome 10.3
35 cholestasis 10.3
36 polyneuropathy 10.3
37 epilepsy 10.3
38 dystonia 10.3
39 axonal neuropathy 10.3
40 muscular atrophy 10.3
41 cataract 10.3
42 neuropathy 10.3
43 fatty liver disease 10.3
44 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.3
45 chiari malformation 10.3
46 granulocytopenia 10.3
47 hypertonia 10.3
48 complement component 2 deficiency 10.1 HADHA ACADVL
49 argininemia 10.1 HADHA ACADM
50 biotinidase deficiency 10.0 HADHA HADH

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
3 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
4 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
5 ethylmalonic aciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003219
6 increased level of methylsuccinic acid in urine 58 31 frequent (33%) Frequent (79-30%) HP:0410153
7 elevated circulating acylcarnitine concentration 31 frequent (33%) HP:0045045
8 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
9 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
10 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
11 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
12 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
13 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
14 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
15 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
16 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
17 hypoglycemic encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006929
18 ketotic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012734
19 progressive external ophthalmoplegia 31 occasional (7.5%) HP:0000590
20 seizure 31 occasional (7.5%) HP:0001250
21 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
22 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
23 hypertonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001276
24 intrauterine growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0001511
25 seizures 58 Occasional (29-5%)
26 scoliosis 31 HP:0002650
27 facial palsy 31 HP:0010628
28 global developmental delay 31 HP:0001263
29 flexion contracture 31 HP:0001371
30 feeding difficulties in infancy 31 HP:0008872
31 neurodevelopmental delay 58 Frequent (79-30%)
32 psychosis 31 HP:0000709
33 abnormality of the cerebral white matter 31 HP:0002500
34 generalized hypotonia 31 HP:0001290
35 elevated plasma acylcarnitine levels 58 Frequent (79-30%)
36 hypotonia 31 HP:0001252
37 episodic metabolic acidosis 31 HP:0004911

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
lethargy
hypotonia
developmental delay
speech delay
more
Muscle Soft Tissue:
muscle weakness
myopathy
hypotonia
multiminicore myopathy
lipid storage myopathy

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)

Skeletal Spine:
scoliosis

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 (Updated 20-May-2021)

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.46 ACADS ACADVL ETFDH MCCC1
2 Decreased POU5F1-GFP protein expression GR00184-A-1 9.35 ACADS CPT2 ECHDC1 ETFDH HADHA
3 shRNA abundance <= 50% GR00343-S 9.02 ACAD8 ACAD9 ACADVL CPT2 ETFDH

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 29 ACADS

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

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

40
Liver, Skeletal Muscle, Cortex, Placenta, Brain, Skin

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

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

(show top 50) (show all 107)
# Title Authors PMID Year
1
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. 6 25 57 61 54
18523805 2008
2
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. 61 54 6 57 25
11134486 2001
3
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 61 54 6 57
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. 6 57 25
18054510 2008
5
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. 61 54 6 57
9499414 1998
6
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. 6 25 54 61
18676165 2008
7
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. 6 61 54 25
16926354 2006
8
Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. 61 57 6
2808706 1989
9
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. 54 25 57
11524729 2001
10
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. 25 6
28516284 2017
11
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. 25 6
22424739 2012
12
Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. 25 6
19800078 2010
13
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. 61 54 6
14506246 2003
14
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 6 61 54
12736383 2003
15
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. 61 6 54
12872838 2003
16
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. 61 57 54
9932958 1999
17
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. 61 6 54
9582344 1998
18
Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA. 57 54 61
8325633 1993
19
Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. 57 61 54
1635815 1992
20
Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency. 54 57 61
2260861 1990
21
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. 25 57
3571488 1987
22
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. 61 6
29678161 2018
23
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 61 6
29519241 2018
24
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. 61 6
27466294 2016
25
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD). 61 6
26110041 2015
26
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. 61 6
24485985 2014
27
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. 6 61
21170680 2011
28
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. 54 25 61
16773466 2006
29
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. 25 54 61
14595061 2003
30
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. 6 61
14568186 2003
31
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. 61 57
2919115 1989
32
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. 6
28532786 2017
33
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 6
28454995 2017
34
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. 6
30035407 2017
35
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]. 6
27938594 2016
36
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. 6
28018444 2016
37
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. 25 61
27051597 2016
38
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 6
26055667 2016
39
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. 6
26274329 2015
40
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 6
23798014 2013
41
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. 6
22241096 2012
42
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. 6
21483766 2011
43
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood. 6
21500142 2011
44
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. 6
21325261 2011
45
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. 61 25
20373143 2010
46
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. 6
18951053 2008
47
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. 6
16906473 2006
48
Understanding mutations and protein stability through tripeptides. 6
16546179 2006
49
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. 57
9578969 1998
50
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. 57
9266373 1997

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

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

6 (show top 50) (show all 199)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACADS NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) SNV Pathogenic 3837 rs28940875 GRCh37: 12:121177150-121177150
GRCh38: 12:120739347-120739347
2 ACADS NM_000017.4(ACADS):c.175C>T (p.Gln59Ter) SNV Pathogenic 1029426 GRCh37: 12:121164957-121164957
GRCh38: 12:120727154-120727154
3 ACADS NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) SNV Pathogenic/Likely pathogenic 30612 rs387906950 GRCh37: 12:121176944-121176944
GRCh38: 12:120739141-120739141
4 ACADS NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) SNV Pathogenic/Likely pathogenic 30611 rs147442301 GRCh37: 12:121164946-121164946
GRCh38: 12:120727143-120727143
5 ACADS NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) Microsatellite Pathogenic/Likely pathogenic 3833 rs387906308 GRCh37: 12:121174884-121174886
GRCh38: 12:120737081-120737083
6 ACADS NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) SNV Pathogenic/Likely pathogenic 3828 rs57443665 GRCh37: 12:121175696-121175696
GRCh38: 12:120737893-120737893
7 ACADS NM_000017.4(ACADS):c.1086+1G>T SNV Likely pathogenic 555304 rs1555244367 GRCh37: 12:121177000-121177000
GRCh38: 12:120739197-120739197
8 ACADS NM_000017.4(ACADS):c.1086+1del Deletion Likely pathogenic 554099 rs1555244366 GRCh37: 12:121176999-121176999
GRCh38: 12:120739196-120739196
9 ACADS NM_000017.4(ACADS):c.1086+1G>A SNV Likely pathogenic 552214 rs1555244367 GRCh37: 12:121177000-121177000
GRCh38: 12:120739197-120739197
10 ACADS NM_000017.4(ACADS):c.1029+1G>A SNV Likely pathogenic 370627 rs1057516639 GRCh37: 12:121176719-121176719
GRCh38: 12:120738916-120738916
11 ACADS NM_000017.4(ACADS):c.315del (p.Ser106fs) Deletion Likely pathogenic 370300 rs1057516385 GRCh37: 12:121174893-121174893
GRCh38: 12:120737090-120737090
12 ACADS NM_000017.4(ACADS):c.1031del (p.Glu344fs) Deletion Likely pathogenic 371289 rs1057517155 GRCh37: 12:121176944-121176944
GRCh38: 12:120739141-120739141
13 ACADS NM_000017.4(ACADS):c.473-2A>G SNV Likely pathogenic 370096 rs1057516231 GRCh37: 12:121175638-121175638
GRCh38: 12:120737835-120737835
14 ACADS NM_000017.4(ACADS):c.32del (p.Gly11fs) Deletion Likely pathogenic 371051 rs1057516967 GRCh37: 12:121163718-121163718
GRCh38: 12:120725915-120725915
15 ACADS NM_000017.4(ACADS):c.593_594del (p.Phe198fs) Deletion Likely pathogenic 370685 rs1057516685 GRCh37: 12:121175759-121175760
GRCh38: 12:120737956-120737957
16 ACADS NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) SNV Likely pathogenic 370560 rs149107232 GRCh37: 12:121175215-121175215
GRCh38: 12:120737412-120737412
17 ACADS NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) SNV Likely pathogenic 370099 rs541587321 GRCh37: 12:121176997-121176997
GRCh38: 12:120739194-120739194
18 ACADS NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) Deletion Likely pathogenic 370351 rs1057516421 GRCh37: 12:121177176-121177177
GRCh38: 12:120739373-120739374
19 ACADS NM_000017.4(ACADS):c.125_135del (p.Leu42fs) Deletion Likely pathogenic 370741 rs1057516733 GRCh37: 12:121164904-121164914
GRCh38: 12:120727101-120727111
20 ACADS NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) SNV Likely pathogenic 370891 rs1057516848 GRCh37: 12:121175694-121175694
GRCh38: 12:120737891-120737891
21 ACADS NM_000017.4(ACADS):c.211-1G>A SNV Likely pathogenic 370534 rs1057516566 GRCh37: 12:121174788-121174788
GRCh38: 12:120736985-120736985
22 ACADS NM_000017.4(ACADS):c.934-5T>A SNV Likely pathogenic 973488 GRCh37: 12:121176618-121176618
GRCh38: 12:120738815-120738815
23 ECHDC1 NM_001002030.2(ECHDC1):c.221-4_222delinsTA Indel Likely pathogenic 978062 GRCh37: 6:127648288-127648293
GRCh38: 6:127327143-127327148
24 ECHDC1 NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr) SNV Likely pathogenic 978063 GRCh37: 6:127637622-127637622
GRCh38: 6:127316477-127316477
25 ECHDC1 NM_001002030.2(ECHDC1):c.498-40AG[2] Microsatellite Likely pathogenic 978064 GRCh37: 6:127611455-127611458
GRCh38: 6:127290310-127290313
26 ACADS NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) SNV Likely pathogenic 3825 rs121908003 GRCh37: 12:121164918-121164918
GRCh38: 12:120727115-120727115
27 ACADS NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) SNV Likely pathogenic 3829 rs28940872 GRCh37: 12:121177159-121177159
GRCh38: 12:120739356-120739356
28 ACADS NM_000017.4(ACADS):c.682_683del (p.Glu228fs) Deletion Likely pathogenic 189093 rs786204691 GRCh37: 12:121176139-121176140
GRCh38: 12:120738336-120738337
29 ACADS NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) SNV Likely pathogenic 203557 rs140853839 GRCh37: 12:121176677-121176677
GRCh38: 12:120738874-120738874
30 ACADS NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) Indel Likely pathogenic 203569 rs796051906 GRCh37: 12:121176677-121176679
GRCh38: 12:120738874-120738876
31 ACADS NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) SNV Likely pathogenic 189087 rs752677472 GRCh37: 12:121175207-121175207
GRCh38: 12:120737404-120737404
32 ACADS NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) SNV Likely pathogenic 370525 rs749491616 GRCh37: 12:121175167-121175167
GRCh38: 12:120737364-120737364
33 ACADS NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) Duplication Likely pathogenic 553547 rs765758808 GRCh37: 12:121163716-121163717
GRCh38: 12:120725913-120725914
34 ACADS NM_000017.4(ACADS):c.675dup (p.Lys226fs) Duplication Likely pathogenic 370372 rs1057516436 GRCh37: 12:121176129-121176130
GRCh38: 12:120738326-120738327
35 ACADS NM_000017.4(ACADS):c.1030-1G>A SNV Likely pathogenic 558285 rs1226857910 GRCh37: 12:121176942-121176942
GRCh38: 12:120739139-120739139
36 ACADS NM_000017.4(ACADS):c.107dup (p.Thr37fs) Duplication Conflicting interpretations of pathogenicity 550479 rs750941135 GRCh37: 12:121164888-121164889
GRCh38: 12:120727085-120727086
37 ACADS NM_000017.4(ACADS):c.1A>G (p.Met1Val) SNV Conflicting interpretations of pathogenicity 552667 rs1291226969 GRCh37: 12:121163689-121163689
GRCh38: 12:120725886-120725886
38 ACADS NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) SNV Conflicting interpretations of pathogenicity 3836 rs28941773 GRCh37: 12:121176971-121176971
GRCh38: 12:120739168-120739168
39 ACADS NM_000017.4(ACADS):c.910dup (p.Leu304fs) Duplication Conflicting interpretations of pathogenicity 370584 rs1057516606 GRCh37: 12:121176446-121176447
GRCh38: 12:120738643-120738644
40 ACADS NM_000017.4(ACADS):c.1095G>T (p.Gln365His) SNV Conflicting interpretations of pathogenicity 203560 rs368469075 GRCh37: 12:121177107-121177107
GRCh38: 12:120739304-120739304
41 ACADS NM_000017.4(ACADS):c.596C>T (p.Ala199Val) SNV Conflicting interpretations of pathogenicity 623120 rs766579880 GRCh37: 12:121175763-121175763
GRCh38: 12:120737960-120737960
42 ACADS NM_000017.4(ACADS):c.624+8C>T SNV Conflicting interpretations of pathogenicity 307438 rs371550264 GRCh37: 12:121175799-121175799
GRCh38: 12:120737996-120737996
43 ACADS NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) SNV Conflicting interpretations of pathogenicity 3826 rs61732144 GRCh37: 12:121174897-121174897
GRCh38: 12:120737094-120737094
44 ACADS NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) SNV Conflicting interpretations of pathogenicity 3830 rs1800556 GRCh37: 12:121175678-121175678
GRCh38: 12:120737875-120737875
45 ACADS NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr) SNV Uncertain significance 555291 rs768733898 GRCh37: 12:121176979-121176979
GRCh38: 12:120739176-120739176
46 ACADS NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) SNV Uncertain significance 30613 rs387906951 GRCh37: 12:121174901-121174901
GRCh38: 12:120737098-120737098
47 ACADS NM_000017.4(ACADS):c.995C>T (p.Ala332Val) SNV Uncertain significance 551883 rs1555244290 GRCh37: 12:121176684-121176684
GRCh38: 12:120738881-120738881
48 ACADS NM_000017.4(ACADS):c.1182del (p.Ser395fs) Deletion Uncertain significance 551521 rs1555244432 GRCh37: 12:121177193-121177193
GRCh38: 12:120739390-120739390
49 ACADS NM_000017.4(ACADS):c.47-6C>A SNV Uncertain significance 550915 rs749023748 GRCh37: 12:121164823-121164823
GRCh38: 12:120727020-120727020
50 ACADS NM_000017.4(ACADS):c.842G>C (p.Gly281Ala) SNV Uncertain significance 550463 rs762083095 GRCh37: 12:121176382-121176382
GRCh38: 12:120738579-120738579

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

72
# 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

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:

36
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 MCCC1 HADHA HADH ETHE1 ETFDH ETFA
2
Show member pathways
12.65 HADHA HADH CPT2 ACADVL ACADS ACADM
3
Show member pathways
12.25 HADHA HADH CPT2 ACADVL ACADSB ACADS
4 11.63 MCCC1 HADH ACADM
5
Show member pathways
11.54 HADHA HADH ACADVL ACADS ACADM
6 11.3 HADH ACADVL ACADM
7
Show member pathways
11.24 MCCC1 HADHA HADH ACADSB ACADS ACADM
8
Show member pathways
11.21 HADHA HADH ACADS
9
Show member pathways
11.16 HADHA HADH CPT2 ACADVL ACADS ACADM
10 11.14 HADHA ECHDC1 ACADS
11
Show member pathways
11.07 HADHA ACADS
12 10.95 CPT2 ACADM
13 10.87 HADH ECHDC1
14
Show member pathways
10.81 HADHA ACADSB
15
Show member pathways
10.54 HADHA HADH ACADM

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 mitochondrion GO:0005739 9.77 MCCC1 HADHA HADH ETHE1 ETFDH ETFA
2 mitochondrial inner membrane GO:0005743 9.65 HADHA ETFDH CPT2 ACADVL ACAD9
3 mitochondrial membrane GO:0031966 9.46 ETFDH ACADVL ACADM ACAD9
4 mitochondrial nucleoid GO:0042645 9.32 HADHA ACADVL
5 mitochondrial matrix GO:0005759 9.32 MCCC1 HADH ETHE1 ETFDH ETFA ACADVL

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 HADHA HADH CPT2 ACADVL ACADSB ACADS
2 fatty acid metabolic process GO:0006631 9.8 HADHA HADH CPT2 ACADVL ACADSB ACADS
3 oxidation-reduction process GO:0055114 9.7 HADHA HADH ETHE1 ETFDH ETFA ACADVL
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.55 ETFDH ETFA ACADVL ACADS ACADM
5 branched-chain amino acid catabolic process GO:0009083 9.54 MCCC1 ACADSB ACAD8
6 response to cold GO:0009409 9.49 ACADVL ACADM
7 long-chain fatty acid metabolic process GO:0001676 9.48 CPT2 ACAD9
8 respiratory electron transport chain GO:0022904 9.46 ETFDH ETFA
9 carnitine metabolic process GO:0009437 9.43 CPT2 ACADM
10 medium-chain fatty acid metabolic process GO:0051791 9.4 ACADM ACAD9
11 fatty acid beta-oxidation GO:0006635 9.17 HADHA HADH ECHDC1 CPT2 ACADVL ACADS

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 oxidoreductase activity GO:0016491 9.9 HADHA HADH ETHE1 ETFDH ETFA ACADVL
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.73 ACADVL ACADSB ACADS ACADM ACAD9 ACAD8
3 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACAD9
4 enoyl-CoA hydratase activity GO:0004300 9.48 HADHA ECHDC1
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.46 HADHA HADH
6 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACADVL ACAD9
7 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADSB ACADS ACADM ACAD9 ACAD8
8 medium-chain-acyl-CoA dehydrogenase activity GO:0070991 9.4 ACADM ACAD9
9 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.37 ACADVL ACAD9
10 flavin adenine dinucleotide binding GO:0050660 9.23 ETFDH ETFA ACADVL ACADSB ACADS ACADM

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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