ACADSD
MCID: ACY005
MIFTS: 54

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 57 13
Scad Deficiency 57 75 24 53 25 59 74 37 55
Acads Deficiency 57 53 25 59 74
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 57 53 25 74
Short-Chain Acyl-Coa Dehydrogenase Deficiency 75 24 53 25
Deficiency of Butyryl-Coa Dehydrogenase 25 29 6 72
Scadh Deficiency 57 53 25 74
Short Chain Acyl-Coa Dehydrogenase Deficiency 12 59 15
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 53 25
Acadsd 57 74
Scadd 24 59
Acyl-Coa Dehydrogenase, Short Chain, Deficiency of 75
Acyl-Coa Dehydrogenase Short-Chain Deficiency 74
Butyryl-Coa Dehydrogenase Deficiency 40

Characteristics:

Orphanet epidemiological data:

59
short chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080154
OMIM 57 201470
KEGG 37 H01980
MeSH 44 D008052
MESH via Orphanet 45 C537596
ICD10 via Orphanet 34 E71.3
Orphanet 59 ORPHA26792
MedGen 42 C0342783
UMLS 72 C0342783

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

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). 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 acyl-coa dehydrogenase, very long-chain, deficiency of and hypoglycemia, 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 testes, liver and 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.

NIH Rare Diseases : 53 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)

KEGG : 37
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 : 74 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 : 75 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 64)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 31.9 SLC25A13 HADHA HADH CPT2 ACADVL ACADS
2 hypoglycemia 31.2 HADH CPT2 ACADVL ACADM
3 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.5 HADHA HADH ACADVL ACADM
4 hypotonia 10.8
5 myopathy 10.6
6 citrullinemia, classic 10.6 SLC25A13 ACADS
7 urea cycle disorder 10.5 SLC25A13 ACADS
8 isovaleric acidemia 10.5 ACADS ACAD8
9 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
10 organic acidemia 10.5
11 inherited metabolic disorder 10.5
12 classic phenylketonuria 10.4 PTS PAH
13 fatty liver disease, nonalcoholic 1 10.4
14 mild hyperphenylalaninemia 10.4 PTS PAH
15 autosomal recessive disease 10.4
16 metabolic acidosis 10.4
17 scoliosis 10.4
18 myoglobinuria, recurrent 10.3 CPT2 ACADVL
19 carnitine deficiency, systemic primary 10.3 CPT2 ACADVL
20 reye syndrome 10.3 HADHA ACADM
21 liver disease 10.3
22 placenta disease 10.3
23 acyl-coa dehydrogenase deficiency 10.3
24 hyperphenylalaninemia, bh4-deficient, a 10.3 SLC25A13 PTS PAH
25 cleft palate, isolated 10.3
26 galactosemia 10.3
27 minicore myopathy with external ophthalmoplegia 10.3
28 ocular motor apraxia 10.3
29 kearns-sayre syndrome 10.3
30 encephalopathy, ethylmalonic 10.3
31 ptosis 10.3
32 bronchopneumonia 10.3
33 chronic progressive external ophthalmoplegia 10.3
34 hellp syndrome 10.3
35 diarrhea 10.3
36 cholestasis 10.3
37 polyneuropathy 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 microcephaly 10.3
45 chiari malformation 10.3
46 encephalopathy 10.3
47 hypertonia 10.3
48 muscular lipidosis 10.3
49 tetrahydrobiopterin deficiency 10.2 PTS PAH
50 carnitine palmitoyltransferase ii deficiency, infantile 10.2 CPT2 ACADVL

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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 progressive external ophthalmoplegia 32 occasional (7.5%) HP:0000590
2 seizures 32 HP:0001250
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 generalized hypotonia 32 HP:0001290
13 cardiomyopathy 32 HP:0001638
14 psychosis 32 HP:0000709
15 lethargy 32 HP:0001254
16 abnormality of the cerebral white matter 32 HP:0002500
17 ethylmalonic aciduria 32 HP:0003219
18 episodic metabolic acidosis 32 HP:0004911

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

46
# 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 29 ACADS

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

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

41
Testes, Liver, Brain, Skeletal Muscle, Skin, Thyroid, Cortex

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

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

(show top 50) (show all 86)
# Title Authors PMID Year
1
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. 9 38 4 8 71
11134486 2001
2
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 9 38 8 71
20376488 2010
3
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. 4 8 71
18054510 2008
4
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. 9 38 8 71
9499414 1998
5
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. 9 38 4 8
18523805 2008
6
Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. 38 8 71
2808706 1989
7
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. 9 4 8
11524729 2001
8
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. 9 38 8
9932958 1999
9
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. 9 38 8
8325633 1993
10
Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. 9 38 8
1635815 1992
11
Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency. 9 38 8
2260861 1990
12
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. 4 8
3571488 1987
13
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. 9 38 4
18676165 2008
14
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. 9 38 4
16926354 2006
15
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. 9 38 4
16773466 2006
16
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. 9 38 4
14595061 2003
17
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. 38 8
2919115 1989
18
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. 38 4
27051597 2016
19
Short-Chain Acyl-CoA Dehydrogenase Deficiency 71
21938826 2011
20
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. 38 4
20373143 2010
21
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. 8
9578969 1998
22
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. 8
9266373 1997
23
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. 8
7776094 1995
24
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. 8
8279487 1993
25
Gluconeogenesis and ketogenesis in perfused livers from short-chain acyl-CoA dehydrogenase-deficient mice. 8
1405468 1992
26
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy. 8
2774489 1989
27
Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. 8
2712823 1989
28
Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. 8
3335634 1988
29
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. 8
6493275 1984
30
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. 4
28516284 2017
31
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. 4
22424739 2012
32
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. 4
20978941 2010
33
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. 4
20429031 2010
34
Pathophysiology of fatty acid oxidation disorders. 4
20824345 2010
35
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. 4
20371198 2010
36
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. 4
19952864 2010
37
Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. 4
19757035 2010
38
Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. 4
19800078 2010
39
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency. 9 38
20389114 2010
40
Short-chain acyl-coenzyme A dehydrogenase deficiency. 4
18977676 2008
41
Mitochondrial fatty acid oxidation defects--remaining challenges. 9 38
18836889 2008
42
[Neonatal screening for metabolic diseases: need for efficacy studies]. 9 38
18714517 2008
43
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 9 38
18175080 2007
44
Approach to management of malignant hyperthermia-like syndrome in pediatric diabetes mellitus. 9 38
16531950 2006
45
Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. 9 38
16101709 2005
46
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. 9 38
15902559 2005
47
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. 9 38
15534767 2004
48
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. 9 38
14506246 2003
49
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 9 38
12736383 2003
50
Short-chain fatty acid inhibitors of histone deacetylases: promising anticancer therapeutics? 4
12769690 2003

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 129)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACADS NM_000017.4(ACADS): c.369C> G (p.Tyr123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749491616 12:121175167-121175167 12:120737364-120737364
2 ACADS NM_000017.4(ACADS): c.136C> T (p.Arg46Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908003 12:121164918-121164918 12:120727115-120727115
3 ACADS NM_000017.4(ACADS): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57443665 12:121175696-121175696 12:120737893-120737893
4 ACADS NM_000017.4(ACADS): c.1147C> T (p.Arg383Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940872 12:121177159-121177159 12:120739356-120739356
5 ACADS NM_000017.4(ACADS): c.307_309GAG[1] (p.Glu104del) short repeat Pathogenic/Likely pathogenic rs387906308 12:121174888-121174890 12:120737085-120737087
6 ACADS NM_000017.4(ACADS): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28940875 12:121177150-121177150 12:120739347-120739347
7 ACADS NM_000017.4(ACADS): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic/Likely pathogenic rs147442301 12:121164946-121164946 12:120727143-120727143
8 ACADS NM_000017.4(ACADS): c.1031A> G (p.Glu344Gly) single nucleotide variant Pathogenic/Likely pathogenic rs387906950 12:121176944-121176944 12:120739141-120739141
9 ACADS NM_000017.4(ACADS): c.682_683del (p.Glu228fs) deletion Pathogenic/Likely pathogenic rs786204691 12:121176140-121176141 12:120738337-120738338
10 ACADS NM_000017.4(ACADS): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs140853839 12:121176677-121176677 12:120738874-120738874
11 ACADS NM_000017.4(ACADS): c.409C> T (p.Gln137Ter) single nucleotide variant Likely pathogenic rs752677472 12:121175207-121175207 12:120737404-120737404
12 ACADS NM_000017.4(ACADS): c.29_35dup (p.Ala13fs) duplication Likely pathogenic rs765758808 12:121163716-121163716 12:120725914-120725920
13 ACADS NM_000017.4(ACADS): c.1086+1G> A single nucleotide variant Likely pathogenic rs1555244367 12:121177000-121177000 12:120739197-120739197
14 ACADS NM_000017.4(ACADS): c.107dup (p.Thr37fs) duplication Likely pathogenic rs750941135 12:121164888-121164888 12:120727086-120727086
15 ACADS NM_000017.4(ACADS): c.1030-1G> A single nucleotide variant Likely pathogenic rs1226857910 12:121176942-121176942 12:120739139-120739139
16 ACADS NM_000017.4(ACADS): c.1086+1G> T single nucleotide variant Likely pathogenic rs1555244367 12:121177000-121177000 12:120739197-120739197
17 ACADS NM_000017.3(ACADS): c.1086+1del deletion Likely pathogenic rs1555244366 12:121176998-121176999 12:120739197-120739197
18 ACADS NM_000017.4(ACADS): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1291226969 12:121163689-121163689 12:120725886-120725886
19 ACADS NM_000017.4(ACADS): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs149107232 12:121175215-121175215 12:120737412-120737412
20 ACADS NM_000017.4(ACADS): c.473-2A> G single nucleotide variant Likely pathogenic rs1057516231 12:121175638-121175638 12:120737835-120737835
21 ACADS NM_000017.4(ACADS): c.527C> A (p.Ser176Ter) single nucleotide variant Likely pathogenic rs1057516848 12:121175694-121175694 12:120737891-120737891
22 ACADS NM_000017.4(ACADS): c.593_594del (p.Phe198fs) deletion Likely pathogenic rs1057516685 12:121175760-121175761 12:120737957-120737958
23 ACADS NM_000017.4(ACADS): c.675dup (p.Lys226fs) duplication Likely pathogenic rs1057516436 12:121176133-121176133 12:120738330-120738330
24 ACADS NM_000017.4(ACADS): c.32del (p.Gly11fs) deletion Likely pathogenic rs1057516967 12:121163720-121163720 12:120725917-120725917
25 ACADS NM_000017.4(ACADS): c.125_135del (p.Leu42fs) deletion Likely pathogenic rs1057516733 12:121164907-121164917 12:120727104-120727114
26 ACADS NM_000017.4(ACADS): c.211-1G> A single nucleotide variant Likely pathogenic rs1057516566 12:121174788-121174788 12:120736985-120736985
27 ACADS NM_000017.4(ACADS): c.315del (p.Ser106fs) deletion Likely pathogenic rs1057516385 12:121174893-121174893 12:120737090-120737090
28 ACADS NM_000017.4(ACADS): c.1029+1G> A single nucleotide variant Likely pathogenic rs1057516639 12:121176719-121176719 12:120738916-120738916
29 ACADS NM_000017.4(ACADS): c.1031del (p.Glu344fs) deletion Likely pathogenic rs1057517155 12:121176944-121176944 12:120739141-120739141
30 ACADS NM_000017.4(ACADS): c.1084C> T (p.Gln362Ter) single nucleotide variant Likely pathogenic rs541587321 12:121176997-121176997 12:120739194-120739194
31 ACADS NM_000017.4(ACADS): c.1164_1165del (p.Glu389fs) deletion Likely pathogenic rs1057516421 12:121177176-121177177 12:120739373-120739374
32 ACADS NM_000017.4(ACADS): c.1153G> T (p.Ala385Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202124189 12:121177165-121177165 12:120739362-120739362
33 ACADS NM_000017.4(ACADS): c.1192C> T (p.Gln398Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs767774362 12:121177204-121177204 12:120739401-120739401
34 ACADS NM_000017.4(ACADS): c.814C> T (p.Arg272Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs539219309 12:121176354-121176354 12:120738551-120738551
35 ACADS NM_000017.4(ACADS): c.910dup (p.Leu304fs) duplication Conflicting interpretations of pathogenicity rs1057516606 12:121176450-121176450 12:120738647-120738647
36 ACADS NM_000017.4(ACADS): c.974G> A (p.Arg325Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs932525260 12:121176663-121176663 12:120738860-120738860
37 ACADS NM_000017.4(ACADS): c.1130C> T (p.Pro377Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183161718 12:121177142-121177142 12:120739339-120739339
38 ACADS NM_000017.4(ACADS): c.328G> A (p.Ala110Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs780571371 12:121174906-121174906 12:120737103-120737103
39 ACADS NM_000017.4(ACADS): c.319C> T (p.Arg107Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61732144 12:121174897-121174897 12:120737094-120737094
40 ACADS NM_000017.4(ACADS): c.511C> T (p.Arg171Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800556 12:121175678-121175678 12:120737875-120737875
41 ACADS NM_000017.4(ACADS): c.625G> A (p.Gly209Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799958 12:121176083-121176083 12:120738280-120738280
42 ACADS NM_000017.4(ACADS): c.973C> T (p.Arg325Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121908006 12:121176662-121176662 12:120738859-120738859
43 ACADS NM_000017.4(ACADS): c.1058C> T (p.Ser353Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28941773 12:121176971-121176971 12:120739168-120739168
44 ACADS NM_000017.4(ACADS): c.815G> A (p.Arg272His) single nucleotide variant Conflicting interpretations of pathogenicity rs374726386 12:121176355-121176355 12:120738552-120738552
45 ACADS NM_000017.4(ACADS): c.1112G> T (p.Gly371Val) single nucleotide variant Conflicting interpretations of pathogenicity rs796051905 12:121177124-121177124 12:120739321-120739321
46 ACADS NM_000017.4(ACADS): c.1156C> T (p.Arg386Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs537072819 12:121177168-121177168 12:120739365-120739365
47 ACADS NM_000017.4(ACADS): c.*4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs774815274 12:121177255-121177255 12:120739452-120739452
48 ACADS NM_000017.4(ACADS): c.820G> A (p.Gly274Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs746368198 12:121176360-121176360 12:120738557-120738557
49 ACADS NM_000017.4(ACADS): c.465C> T (p.Ser155=) single nucleotide variant Conflicting interpretations of pathogenicity rs141492002 12:121175263-121175263 12:120737460-120737460
50 ACADS NM_000017.4(ACADS): c.1095G> T (p.Gln365His) single nucleotide variant Conflicting interpretations of pathogenicity rs368469075 12:121177107-121177107 12:120739304-120739304

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

74
# 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:

37
# 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 SLC25A13 SLC25A10 PTS PAH HADHA HADH
2
Show member pathways
12.65 HADHA HADH CPT2 ACADVL ACADS ACADM
3
Show member pathways
12.08 PAH HADHA ACADS ACADM
4 11.9 PAH HADHA ACADM
5
Show member pathways
11.63 HADHA HADH ACADS ACADM ACAD8
6 11.25 HADH ACADVL ACADM
7
Show member pathways
11.17 HADHA HADH ACADVL ACADS ACADM
8
Show member pathways
11.12 HADHA HADH ACADS
9 11.06 HADHA ACADM
10
Show member pathways
10.96 PTS PAH
11 10.89 CPT2 ACADM
12
Show member pathways
10.82 HADHA HADH CPT2 ACADVL ACADS ACADM
13
Show member pathways
10.43 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 mitochondrial matrix GO:0005759 9.56 HADH ETFA ALDH4A1 AK4 ACADVL ACADS
2 mitochondrial inner membrane GO:0005743 9.55 SLC25A13 SLC25A10 HADHA CPT2 ACADVL
3 mitochondrion GO:0005739 9.47 SLC25A13 SLC25A10 PTS NOX4 HADHA HADH
4 mitochondrial membrane GO:0031966 9.43 SLC25A10 ACADVL ACADM

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

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

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
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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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