ACADMD
MCID: ACY009
MIFTS: 58

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of (ACADMD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

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

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

Name: Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 56
Mcad Deficiency 56 25 58 73 36 54
Medium Chain Acyl-Coa Dehydrogenase Deficiency 12 25 58 15
Acadm Deficiency 56 25 58 73
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 56 58 73
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 56 74 13
Mcadh Deficiency 56 25 73
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 25 71
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 74 25
Acadmd 56 73
Mcadd 25 58
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 58
Acyl-Coa Dehydrogenase Medium-Chain Deficiency 73
Medium Chain Acyl Dehydrogenase Deficiency 71

Characteristics:

Orphanet epidemiological data:

58
medium chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
most common disorder of fatty acid oxidation (1/13,000 births)
clinical presentation varies from asymptomatic to fulminant course
onset precipitated by fasting or illness


HPO:

31
acyl-coa dehydrogenase, medium-chain, deficiency of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


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

Genetics Home Reference : 25 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder 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.

MalaCards based summary : Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of, also known as mcad deficiency, is related to lipoid congenital adrenal hyperplasia and organic acidemia, and has symptoms including seizures, vomiting and lethargy. An important gene associated with Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of is ACADM (Acyl-CoA Dehydrogenase Medium Chain), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skeletal muscle, and related phenotypes are muscular hypotonia and hepatomegaly

Disease Ontology : 12 A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.

OMIM : 56 Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986). (201450)

KEGG : 36 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.

UniProtKB/Swiss-Prot : 73 Acyl-CoA dehydrogenase medium-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.

Wikipedia : 74 Medium-chain acyl-CoA dehydrogenase deficiency, is a disorder of fatty acid oxidation that impairs the... more...

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

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 30.7 HADHA BTD ACADM
2 organic acidemia 30.7 MMD BTD ACADS ACADM
3 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.6 CPT2 ACADVL
4 galactokinase deficiency 30.4 SLC25A13 BTD
5 ornithine transcarbamylase deficiency, hyperammonemia due to 30.2 SLC25A13 MMD
6 abdominal obesity-metabolic syndrome 1 30.1 PAH ETFDH BTD ACADM
7 alpha-methylacetoacetic aciduria 30.1 MMD HADH ETFDH BTD
8 phenylketonuria 30.0 PAH HADHA BTD ACADM
9 acyl-coa dehydrogenase, very long-chain, deficiency of 29.9 SLC25A20 SLC25A13 HADHA HADH ETFDH CPT2
10 isovaleric acidemia 29.9 MMD HADHA CPT2 BTD ACADVL ACADS
11 carbonic anhydrase va deficiency, hyperammonemia due to 29.8 SLC25A20 SLC25A13
12 atrial standstill 1 29.7 SLC25A20 SLC22A5 HADHA ACADVL
13 reye syndrome 29.6 SLC22A5 HADHA ETFDH CPT2 ACADVL ACADM
14 acyl-coa dehydrogenase deficiency 29.4 SLC22A5 HADHA ETFDH ETFA ACADVL ACADS
15 hypoglycemia 28.9 SLC25A20 SLC22A5 HADHA HADH CPT2 ACADVL
16 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.9
17 hypotonia 10.5
18 ocular motor apraxia 10.5
19 sudden infant death syndrome 10.5
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
21 metabolic acidosis 10.4
22 fasting hypoglycemia 10.4
23 inherited metabolic disorder 10.3
24 myoglobinuria, recurrent 10.3 CPT2 ACADVL
25 muscular lipidosis 10.3 ETFDH ACADS
26 cystic fibrosis 10.3
27 galactosemia 10.3
28 orotic aciduria 10.3
29 abnormal hair, joint laxity, and developmental delay 10.3
30 congenital hypothyroidism 10.3
31 hypothyroidism 10.3
32 hyperuricemia 10.3
33 sickle cell disease 10.3
34 abetalipoproteinemia 10.3
35 rett syndrome 10.3
36 retinitis pigmentosa 11 10.3
37 cyanosis, transient neonatal 10.3
38 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
39 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
40 dilated cardiomyopathy 10.3
41 hellp syndrome 10.3
42 methylmalonic acidemia 10.3
43 ventricular septal defect 10.3
44 heart septal defect 10.3
45 duodenal ulcer 10.3
46 status epilepticus 10.3
47 epilepsy 10.3
48 cerebral palsy 10.3
49 glycogen storage disease 10.3
50 hyperglycemia 10.3

Graphical network of the top 20 diseases related to Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of:



Diseases related to Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of

Symptoms & Phenotypes for Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of

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

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
3 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
4 decreased liver function 58 31 frequent (33%) Frequent (79-30%) HP:0001410
5 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
6 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
7 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
8 exercise-induced myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003738
9 fatigable weakness of neck muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030199
10 dicarboxylic aciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003215
11 decreased plasma total carnitine 58 31 frequent (33%) Frequent (79-30%) HP:0011936
12 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
15 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
16 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
17 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
18 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
19 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
20 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
21 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
22 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
23 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
24 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
25 febrile seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002373
26 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
27 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
28 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
29 ketosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001946
30 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
31 abnormal lactate dehydrogenase activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0045040
32 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
33 distal arthrogryposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005684
34 elevated urinary 3-hydroxybutyric acid 58 31 occasional (7.5%) Occasional (29-5%) HP:0040155
35 muscle spasm 31 occasional (7.5%) HP:0003394
36 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
37 seizures 31 HP:0001250
38 global developmental delay 31 HP:0001263
39 elevated serum creatine phosphokinase 58 Occasional (29-5%)
40 generalized hypotonia 31 HP:0001290
41 muscle cramps 58 Occasional (29-5%)
42 metabolic acidosis 31 HP:0001942
43 cerebral edema 31 HP:0002181
44 fatigable weakness 58 Frequent (79-30%)
45 decreased plasma carnitine 31 HP:0003234
46 hyperglycinuria 31 HP:0003108
47 medium chain dicarboxylic aciduria 31 HP:0008309

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
coma
lethargy
cerebral edema
hypotonia
more
Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
decreased plasma carnitine
medium chain dicarboxylic aciduria
mildly elevated blood ammonia
increased liver enzymes
acylglycinuria
more
Abdomen Liver:
hepatomegaly
fatty infiltration of liver

Metabolic Features:
hypoglycemia
absent to trace urine and plasma ketones
mild metabolic acidosis

Clinical features from OMIM:

201450

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


seizures, vomiting, lethargy

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 8.92 ACADS CPT2 ETFDH HADHA

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ACADL ACADM ACADS ACADVL BTD CPT1B
2 cardiovascular system MP:0005385 9.92 ACADL ACADM ACADVL CPT2 ETFDH HADHA
3 liver/biliary system MP:0005370 9.76 ACADL ACADM ACADS ACADVL HADHA SLC22A5
4 mortality/aging MP:0010768 9.7 ACADL ACADM ACADS ACADVL CPT1B CPT2
5 renal/urinary system MP:0005367 9.28 ACADL ACADS BTD HADH HADHA PAH

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

Drugs for Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1 56-81-5 753
2 4-phenylbutyric acid Phase 1
3 Protective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients With MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Rhabdomyolysis in Basic Training Completed NCT00601029
3 Fasting Tolerance in Patients With Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the First Six Months of Life: an Investigator-initiated Human Pilot-study Recruiting NCT03761693

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

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

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

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

40
Liver, Brain, Skeletal Muscle, Testes, Whole Blood, Cortex, Skin

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

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

(show top 50) (show all 285)
# Title Authors PMID Year
1
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 54 61 56 6
11349232 2001
2
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? 54 61 56 6
9158144 1997
3
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. 61 56 6
23574375 2014
4
Molecular and functional characterisation of mild MCAD deficiency. 61 56 6
11409868 2001
5
Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein. 61 56 6
1361190 1992
6
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. 56 6
7603790 1995
7
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. 56 6
3786030 1986
8
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. 54 61 6
11346377 2001
9
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. 54 61 56
9797589 1998
10
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. 54 61 56
9797590 1998
11
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands. 54 61 6
8682492 1996
12
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. 54 61 6
7929823 1994
13
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 54 61 6
7904584 1993
14
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. 54 61 56
8488845 1993
15
Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome. 54 61 6
1570195 1992
16
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects. 54 61 6
1601002 1992
17
Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death. 54 61 6
1356169 1992
18
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 54 61 6
1684086 1991
19
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. 54 61 6
1678810 1991
20
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. 54 61 6
1902818 1991
21
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome. 54 61 56
2279505 1990
22
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 54 61 56
2393404 1990
23
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. 61 6
17273963 2007
24
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 61 6
20301597 2000
25
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. 61 6
11263545 1999
26
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 61 6
1729890 1992
27
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population. 61 6
1756601 1991
28
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene. 61 6
1679031 1991
29
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. 61 6
2394825 1990
30
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. 61 56
2246856 1990
31
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. 61 56
3054550 1988
32
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. 61 56
3944676 1986
33
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. 6
18241067 2008
34
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. 6
15479234 2004
35
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. 56
11524729 2001
36
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. 56
11486898 2001
37
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. 6
11486912 2001
38
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. 6
9882619 1999
39
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 6
8770876 1996
40
Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway? 6
7720752 1995
41
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. 56
8120710 1994
42
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. 6
1447668 1992
43
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. 6
2046713 1991
44
Frequency of the G985 MCAD mutation in the general population. 6
1671131 1991
45
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. 6
2251268 1990
46
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. 6
1972503 1990
47
Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples. 56
2143242 1990
48
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. 56
2502671 1989
49
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. 56
3822638 1987
50
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. 56
3575262 1987

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

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

6 (show top 50) (show all 217) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACADM NM_000016.5(ACADM):c.244dup (p.Trp82fs)duplication Pathogenic 188934 rs786204566 1:76198564-76198565 1:75732879-75732880
2 ACADM NM_000016.5(ACADM):c.449_452del (p.Thr150fs)deletion Pathogenic 189036 rs786204642 1:76200534-76200537 1:75734849-75734852
3 ACADM NM_001286044.1(ACADM):c.-100+1907deldeletion Pathogenic 203548 rs777998984 1:76200514-76200514 1:75734829-75734829
4 ACADM NM_000016.5(ACADM):c.880_881AG[1] (p.Arg294fs)short repeat Pathogenic 203549 rs796051901 1:76216166-76216167 1:75750481-75750482
5 ACADM NM_000016.5(ACADM):c.-6_6delinsACCCCGAAGG (p.Met1fs)indel Pathogenic 226085 rs875989865 1:76190467-76190478 1:75724782-75724793
6 ACADM NM_001286044.1(ACADM):c.-100+641_-100+644deldeletion Pathogenic 226102 rs875989873 1:76199245-76199248 1:75733560-75733563
7 ACADM NM_000016.5(ACADM):c.464T>C (p.Met155Thr)SNV Pathogenic 226106 rs875989876 1:76200552-76200552 1:75734867-75734867
8 ACADM NM_000016.5(ACADM):c.469-1G>ASNV Pathogenic 226091 rs875989869 1:76205664-76205664 1:75739979-75739979
9 ACADM NM_000016.5(ACADM):c.609A>C (p.Leu203Phe)SNV Pathogenic 226065 rs751829413 1:76211500-76211500 1:75745815-75745815
10 ACADM NM_000016.5(ACADM):c.742A>G (p.Arg248Gly)SNV Pathogenic 226089 rs875989867 1:76215137-76215137 1:75749452-75749452
11 ACADM NM_000016.5(ACADM):c.985A>C (p.Lys329Gln)SNV Pathogenic 226057 rs77931234 1:76226846-76226846 1:75761161-75761161
12 ACADM NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter)SNV Pathogenic 226087 rs796051896 1:76226873-76226873 1:75761188-75761188
13 ACADM NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer)insertion Pathogenic 226103 rs875989874 1:76226872-76226873 1:75761187-75761188
14 ACADM NM_000016.5(ACADM):c.1189dup (p.Tyr397fs)duplication Pathogenic 226109 rs875989877 1:76227049-76227050 1:75761364-75761365
15 ACADM NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr)SNV Pathogenic 3589 rs121434275 1:76226985-76226985 1:75761300-75761300
16 ACADM NM_000016.5(ACADM):c.730T>C (p.Cys244Arg)SNV Pathogenic 3590 rs121434276 1:76215125-76215125 1:75749440-75749440
17 ACADM NM_001286044.1(ACADM):c.-100+1928G>ASNV Pathogenic 3591 rs121434277 1:76200535-76200535 1:75734850-75734850
18 ACADM NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs)deletion Pathogenic 3592 rs387906297 1:76226961-76226964 1:75761276-75761279
19 ACADM NM_001286044.1(ACADM):c.-100+662_-100+667deldeletion Pathogenic 3593 rs864621963 1:76199268-76199273 1:75733583-75733588
20 ACADM NM_000016.5(ACADM):c.577A>G (p.Thr193Ala)SNV Pathogenic 3595 rs121434279 1:76205773-76205773 1:75740088-75740088
21 ACADM NM_000016.5(ACADM):c.842G>C (p.Arg281Thr)SNV Pathogenic 3596 rs121434282 1:76215237-76215237 1:75749552-75749552
22 ACADM NM_000016.5(ACADM):c.157C>T (p.Arg53Cys)SNV Pathogenic 92258 rs398123072 1:76198367-76198367 1:75732682-75732682
23 ACADM NM_000016.5(ACADM):c.233T>C (p.Ile78Thr)SNV Pathogenic 92261 rs398123074 1:76198554-76198554 1:75732869-75732869
24 ACADM NM_000016.5(ACADM):c.946-2A>CSNV Pathogenic 265452 rs758753966 1:76226805-76226805 1:75761120-75761120
25 ACADM NM_000016.5(ACADM):c.387+1G>ASNV Pathogenic 371544 rs1057516983 1:76199314-76199314 1:75733629-75733629
26 ACADM NM_000016.5(ACADM):c.1114dup (p.Ala372fs)duplication Pathogenic 370160 rs1057516278 1:76226974-76226975 1:75761289-75761290
27 ACADM NM_000016.5(ACADM):c.989_1010del (p.Val330fs)deletion Pathogenic 458791 rs1553127172 1:76226850-76226871 1:75761165-75761186
28 ACADM NM_001286044.1(ACADM):c.-100+1906deldeletion Pathogenic 458787 rs886042087 1:76200510-76200510 1:75734825-75734825
29 ACADM NM_000016.5(ACADM):c.431_434del (p.Lys144fs)deletion Pathogenic 371546 rs1057517356 1:76200518-76200521 1:75734833-75734836
30 ACADM NM_000016.5(ACADM):c.1190A>C (p.Tyr397Ser)SNV Pathogenic 528453 rs1553127216 1:76227051-76227051 1:75761366-75761366
31 ACADM NM_001286042.1(ACADM):c.10+3600deldeletion Pathogenic 528454 rs1325949559 1:76194102-76194102 1:75728417-75728417
32 ACADM NM_000016.5(ACADM):c.946-6T>GSNV Pathogenic 558685 rs765793260 1:76226801-76226801 1:75761116-75761116
33 ACADM NM_000016.5(ACADM):c.1194+1G>ASNV Pathogenic 555602 rs769331400 1:76227056-76227056 1:75761371-75761371
34 ACADM NC_000001.10:g.(?_76007120)_(76540569_?)deldeletion Pathogenic 584254 1:76007120-76540569 1:75541435-76074884
35 ACADM NC_000001.10:g.(?_76226787)_(76228468_?)deldeletion Pathogenic 583848 1:76226787-76228468 1:75761102-75762783
36 ACADM NM_001286044.1(ACADM):c.-221deldeletion Pathogenic 576994 rs1319192670 1:76198373-76198373 1:75732688-75732688
37 ACADM NM_001127328.2(ACADM):c.806_815delinsTTTAA (p.Gly269_Ala272delinsValTer)indel Pathogenic 569821 rs1557457623 1:76215189-76215198 1:75749504-75749513
38 ACADM NM_000016.5(ACADM):c.67C>T (p.Gln23Ter)SNV Pathogenic 665907 1:76194122-76194122 1:75728437-75728437
39 ACADM NM_000016.5(ACADM):c.217-1G>ASNV Pathogenic 643196 1:76198537-76198537 1:75732852-75732852
40 ACADM NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)SNV Pathogenic 801498 1:76198411-76198411 1:75732726-75732726
41 ACADM NM_001286044.1(ACADM):c.-100+1877TAT[2]short repeat Pathogenic 650461 1:76200484-76200486 1:75734799-75734801
42 ACADM NM_000016.5(ACADM):c.843A>T (p.Arg281Ser)SNV Pathogenic/Likely pathogenic 550313 rs780504551 1:76215238-76215238 1:75749553-75749553
43 ACADM NM_000016.5(ACADM):c.599+2T>CSNV Pathogenic/Likely pathogenic 370479 rs148260275 1:76205797-76205797 1:75740112-75740112
44 ACADM NM_000016.5(ACADM):c.616C>T (p.Arg206Cys)SNV Pathogenic/Likely pathogenic 92267 rs373715782 1:76211507-76211507 1:75745822-75745822
45 ACADM NM_000016.5(ACADM):c.617G>A (p.Arg206His)SNV Pathogenic/Likely pathogenic 92268 rs200724875 1:76211508-76211508 1:75745823-75745823
46 ACADM NM_000016.5(ACADM):c.734C>T (p.Ser245Leu)SNV Pathogenic/Likely pathogenic 3598 rs121434281 1:76215129-76215129 1:75749444-75749444
47 ACADM NM_000016.5(ACADM):c.583G>A (p.Gly195Arg)SNV Pathogenic/Likely pathogenic 3594 rs121434278 1:76205779-76205779 1:75740094-75740094
48 ACADM NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter)duplication Pathogenic/Likely pathogenic 3587 rs1225471006 1:76226858-76226859 1:75761173-75761174
49 ACADM NM_000016.5(ACADM):c.799G>A (p.Gly267Arg)SNV Pathogenic/Likely pathogenic 3588 rs121434274 1:76215194-76215194 1:75749509-75749509
50 ACADM NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs)deletion Pathogenic/Likely pathogenic 226069 rs875989860 1:76228402-76228403 1:75762717-75762718

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

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 ACADM p.Arg53Cys VAR_000317 rs398123072
2 ACADM p.Met149Ile VAR_000319 rs121434277
3 ACADM p.Thr193Ala VAR_000320 rs121434279
4 ACADM p.Gly195Arg VAR_000321 rs121434278
5 ACADM p.Cys244Arg VAR_000322 rs121434276
6 ACADM p.Gly267Arg VAR_000323 rs121434274
7 ACADM p.Met326Thr VAR_000324 rs786204631
8 ACADM p.Lys329Glu VAR_000325 rs77931234
9 ACADM p.Ser336Arg VAR_000326
10 ACADM p.Ile375Thr VAR_000327 rs121434275
11 ACADM p.Tyr67His VAR_013698 rs121434280
12 ACADM p.Ser245Leu VAR_013699 rs121434281
13 ACADM p.Arg281Thr VAR_013700 rs121434282
14 ACADM p.Ile78Thr VAR_015954 rs398123074
15 ACADM p.Cys116Tyr VAR_015955 rs875989859
16 ACADM p.Thr121Ile VAR_015956 rs121434283
17 ACADM p.Arg206Leu VAR_015957 rs200724875
18 ACADM p.Gly310Arg VAR_015958 rs747268471
19 ACADM p.Tyr352Cys VAR_015959 rs122780078

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

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

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

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 SLC25A20 SLC25A13 PAH HADHA HADH ETFDH
2
Show member pathways
12.68 SLC25A20 HADHA HADH CPT2 CPT1B ACADVL
3
Show member pathways
12.21 HADHA HADH CPT2 CPT1B ACADVL ACADS
4 11.91 PAH HADHA ACADM
5
Show member pathways
11.85 HADHA HADH ACADS ACADM
6 11.64 CPT2 CPT1B ACADM ACADL
7 11.31 HADH CPT1B ACADVL ACADM
8
Show member pathways
11.25 HADHA HADH ACADS
9
Show member pathways
11.25 HADHA HADH ACADVL ACADS ACADM ACADL
10 11.08 HADHA ACADS
11
Show member pathways
11.07 HADHA ACADS
12
Show member pathways
11 SLC25A20 HADHA HADH CPT2 CPT1B ACADVL
13 10.93 CPT2 ACADM
14 10.65 SLC25A20 CPT2 CPT1B
15
Show member pathways
10.58 HADHA HADH ACADM

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

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.63 SLC25A20 SLC25A13 HADHA ETFDH CPT2 ACADVL
2 mitochondrial membrane GO:0031966 9.56 ETFDH ACADVL ACADM ACADL
3 mitochondrial matrix GO:0005759 9.56 HADH ETFDH ETFA BTD ACADVL ACADS
4 mitochondrion GO:0005739 9.4 SLC25A20 SLC25A13 HADHA HADH ETFDH ETFA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 HADHA HADH CPT2 CPT1B ACADVL ACADS
2 oxidation-reduction process GO:0055114 9.91 PAH HADHA HADH ETFDH ETFA ACADVL
3 fatty acid metabolic process GO:0006631 9.76 HADHA HADH CPT2 CPT1B ACADVL ACADS
4 positive regulation of cold-induced thermogenesis GO:0120162 9.65 HADH CPT2 ACADL
5 temperature homeostasis GO:0001659 9.54 ACADVL ACADL
6 carnitine shuttle GO:0006853 9.54 SLC25A20 CPT2 CPT1B
7 respiratory electron transport chain GO:0022904 9.52 ETFDH ETFA
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.51 ACADVL ACADL
9 regulation of cholesterol metabolic process GO:0090181 9.49 ACADVL ACADL
10 carnitine metabolic process GO:0009437 9.46 CPT1B ACADM
11 negative regulation of fatty acid oxidation GO:0046322 9.43 ACADVL ACADL
12 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 ETFDH ETFA ACADVL ACADS ACADM ACADL
13 carnitine metabolic process, CoA-linked GO:0019254 9.4 ACADM ACADL
14 fatty acid beta-oxidation GO:0006635 9.23 HADHA HADH CPT2 CPT1B ACADVL ACADS

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.61 PAH HADHA HADH ETFDH ETFA ACADVL
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.56 ACADVL ACADS ACADM ACADL
3 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACADL
4 acyl-CoA dehydrogenase activity GO:0003995 9.46 ACADVL ACADS ACADM ACADL
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.43 HADHA HADH
6 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.4 ACADVL ACADL
7 carnitine O-palmitoyltransferase activity GO:0004095 9.37 CPT2 CPT1B
8 flavin adenine dinucleotide binding GO:0050660 9.1 ETFDH ETFA ACADVL ACADS ACADM ACADL

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....