ACADMD
MCID: ACY009
MIFTS: 55

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 58
Mcad Deficiency 58 26 60 76 38 56
Medium Chain Acyl-Coa Dehydrogenase Deficiency 12 26 60 15
Acadm Deficiency 58 26 60 76
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 58 60 76
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 58 77 13
Mcadh Deficiency 58 26 76
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 26 74
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 77 26
Acadmd 58 76
Mcadd 26 60
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 60
Acyl-Coa Dehydrogenase Medium-Chain Deficiency 76
Medium Chain Acyl Dehydrogenase Deficiency 74

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
acyl-coa dehydrogenase, medium-chain, deficiency of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


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

OMIM : 58 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)

MalaCards based summary : Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of, also known as mcad deficiency, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and reye syndrome, 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 whole blood, and related phenotypes are seizures and muscular hypotonia

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.

Genetics Home Reference : 26 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).

UniProtKB/Swiss-Prot : 76 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 : 77 Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder... 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 all 35)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 31.3 ACADL ACADS ACADVL HADHA
2 reye syndrome 30.7 ACADM HADHA
3 phenylketonuria 29.6 ACADM BTD HADHA
4 hypoglycemia 29.5 ACADL ACADM ACADVL
5 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.8
6 isovaleric acidemia 10.4
7 sudden infant death syndrome 10.3
8 lipoid congenital adrenal hyperplasia 10.3
9 alpha-methylacetoacetic aciduria 10.3
10 cystic fibrosis 10.3
11 hyperuricemia 10.3
12 fatty liver disease 10.3
13 rett syndrome 10.3
14 dilated cardiomyopathy 10.3
15 glycogen storage disease 10.3
16 hellp syndrome 10.3
17 duodenal ulcer 10.3
18 epilepsy 10.3
19 inherited metabolic disorder 10.3
20 encephalopathy 10.3
21 hypoparathyroidism 10.1
22 ocular motor apraxia 10.0
23 fatty liver disease, nonalcoholic 1 10.0
24 infantile liver failure syndrome 1 10.0
25 acute liver failure 10.0
26 multiple acyl-coa dehydrogenase deficiency 9.9 ACADS ACADVL
27 carnitine palmitoyltransferase i deficiency 9.9 ACADVL HADHA
28 carnitine palmitoyltransferase ii deficiency, infantile 9.8 ACADL ACADVL
29 organic acidemia 9.7 ACADM ACADS BTD
30 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 ACADM ACADVL HADHA
31 holocarboxylase synthetase deficiency 9.7 ACADL BTD
32 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 ACADM ACADVL HADHA
33 maple syrup urine disease 9.7 BTD HADHA
34 atrial standstill 1 9.7 ACADVL HADHA
35 acyl-coa dehydrogenase, short-chain, deficiency of 9.6 ACADL ACADM ACADS

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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 muscular hypotonia 33 HP:0001252
3 global developmental delay 33 HP:0001263
4 hepatomegaly 33 HP:0002240
5 vomiting 33 HP:0002013
6 hypoglycemia 33 HP:0001943
7 hepatic steatosis 33 HP:0001397
8 coma 33 HP:0001259
9 lethargy 33 HP:0001254
10 metabolic acidosis 33 HP:0001942
11 cerebral edema 33 HP:0002181
12 generalized hypotonia 33 HP:0001290
13 decreased plasma carnitine 33 HP:0003234
14 hyperglycinuria 33 HP:0003108
15 medium chain dicarboxylic aciduria 33 HP:0008309
16 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
coma
lethargy
cerebral edema
hypotonia
more
Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
decreased plasma carnitine
mildly elevated blood ammonia
increased liver enzymes
medium chain dicarboxylic aciduria
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ACADL ACADM ACADS ACADVL BTD HADHA
2 liver/biliary system MP:0005370 9.55 ACADL ACADM ACADS ACADVL HADHA
3 muscle MP:0005369 9.35 ACADM ACADS ACADVL BTD HADHA
4 renal/urinary system MP:0005367 8.92 ACADL ACADS BTD HADHA

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):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1,Not Applicable 56-81-5 753
2 4-phenylbutyric acid Phase 1
3 Protective Agents Phase 1,Not Applicable
4
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
5
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
6 Pharmaceutical Solutions Not Applicable
7 Insulin, Globin Zinc Not Applicable
8 Soybean oil, phospholipid emulsion Not Applicable
9 Anticoagulants Not Applicable
10 insulin Not Applicable
11 Calcium, Dietary Not Applicable
12 Fat Emulsions, Intravenous Not Applicable
13 Parenteral Nutrition Solutions Not Applicable
14 Soy Bean Not Applicable
15 Hypoglycemic Agents Not Applicable
16 calcium heparin Not Applicable
17 Fibrinolytic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Ravictiâ„¢ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
4 Fasting Tolerance in MCADD-infants Not yet recruiting NCT03761693 Not Applicable

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:

42
Liver, Brain, Whole Blood, Skin, Cortex

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

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

(show top 50) (show all 73)
# Title Authors Year
1
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys. ( 29258568 )
2017
2
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. ( 27856190 )
2016
3
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. ( 26947917 )
2016
4
cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca(2+) homeostasis and induce mitochondrial permeability transition pore opening in rat brain and liver: Possible implications for the pathogenesis of MCAD deficiency. ( 27240720 )
2016
5
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. ( 26798524 )
2015
6
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing. ( 23546811 )
2013
7
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. ( 23151387 )
2013
8
MCAD deficiency in Denmark. ( 22542437 )
2012
9
Macro-AST: misleading finding in an adolescent with MCAD-deficiency. ( 22935320 )
2012
10
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. ( 23095120 )
2012
11
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. ( 20036593 )
2010
12
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. ( 20434380 )
2010
13
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. ( 20532824 )
2010
14
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. ( 20923556 )
2010
15
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. ( 19428797 )
2009
16
Screening for MCAD deficiency in newborns. ( 19282441 )
2009
17
Genetics: newborn screening for MCAD deficiency. ( 19439701 )
2009
18
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. ( 18188679 )
2008
19
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada. ( 18767270 )
2008
20
Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening. ( 18649007 )
2008
21
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency. ( 17987455 )
2007
22
Acute liver failure in pregnancy associated with maternal MCAD deficiency. ( 17186412 )
2007
23
Safe and unsafe duration of fasting for children with MCAD deficiency. ( 16788829 )
2007
24
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. ( 16677980 )
2006
25
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. ( 16972171 )
2006
26
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. ( 15915086 )
2005
27
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. ( 15870827 )
2005
28
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. ( 15877203 )
2005
29
Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 15858970 )
2005
30
Inhibition of energy metabolism in cerebral cortex of young rats by the medium-chain fatty acids accumulating in MCAD deficiency. ( 15567346 )
2004
31
Expanded newborn screening: Lessons learned from MCAD deficiency. ( 19655016 )
2004
32
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. ( 14648909 )
2003
33
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. ( 12897989 )
2003
34
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. ( 12385891 )
2002
35
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns. ( 12043106 )
2002
36
Molecular and functional characterization of mild MCAD deficiency. ( 11409868 )
2001
37
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. ( 11349232 )
2001
38
Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 11101700 )
2000
39
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 10913960 )
2000
40
Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population. ( 11400780 )
1999
41
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment. ( 10709663 )
1999
42
A rapid MRI technique for the assessment of hepatic steatosis in a subject with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. ( 9702659 )
1998
43
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. ( 9365395 )
1997
44
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? ( 9158144 )
1997
45
Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency. ( 8838477 )
1996
46
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands. ( 8682492 )
1996
47
Comment on "Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency". ( 8947364 )
1996
48
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood. ( 7740006 )
1995
49
[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death]. ( 8590228 )
1995
50
MCAD deficiency and anaesthesia. ( 7717506 )
1995

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

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

76 (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

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

6 (show top 50) (show all 414)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
2 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh38 Chromosome 1, 75732880: 75732880
3 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh38 Chromosome 1, 75733629: 75733629
4 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh37 Chromosome 1, 76199314: 76199314
5 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
6 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh38 Chromosome 1, 75734852: 75734855
7 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh38 Chromosome 1, 75750449: 75750449
8 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh37 Chromosome 1, 76216134: 76216134
9 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh38 Chromosome 1, 75761153: 75761153
10 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh37 Chromosome 1, 76226838: 76226838
11 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh37 Chromosome 1, 76226906: 76226906
12 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh38 Chromosome 1, 75761221: 75761221
13 ACADM NM_000016.5(ACADM): c.928G> A (p.Gly310Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747268471 GRCh37 Chromosome 1, 76216214: 76216214
14 ACADM NM_000016.5(ACADM): c.928G> A (p.Gly310Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747268471 GRCh38 Chromosome 1, 75750529: 75750529
15 ACADM NM_000016.5(ACADM): c.320T> C (p.Leu107Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs746136472 GRCh37 Chromosome 1, 76199246: 76199246
16 ACADM NM_000016.5(ACADM): c.320T> C (p.Leu107Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs746136472 GRCh38 Chromosome 1, 75733561: 75733561
17 ACADM NM_000016.5(ACADM): c.443G> A (p.Arg148Lys) single nucleotide variant Pathogenic/Likely pathogenic rs778906552 GRCh37 Chromosome 1, 76200531: 76200531
18 ACADM NM_000016.5(ACADM): c.443G> A (p.Arg148Lys) single nucleotide variant Pathogenic/Likely pathogenic rs778906552 GRCh38 Chromosome 1, 75734846: 75734846
19 ACADM NM_000016.5(ACADM): c.558T> A (p.Asn186Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs754359356 GRCh37 Chromosome 1, 76205754: 76205754
20 ACADM NM_000016.5(ACADM): c.558T> A (p.Asn186Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs754359356 GRCh38 Chromosome 1, 75740069: 75740069
21 ACADM NM_000016.5(ACADM): c.709-13A> G single nucleotide variant Uncertain significance rs746483754 GRCh37 Chromosome 1, 76215091: 76215091
22 ACADM NM_000016.5(ACADM): c.709-13A> G single nucleotide variant Uncertain significance rs746483754 GRCh38 Chromosome 1, 75749406: 75749406
23 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh37 Chromosome 1, 76200514: 76200514
24 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh38 Chromosome 1, 75734829: 75734829
25 ACADM NM_000016.5(ACADM): c.683C> A (p.Thr228Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs149678400 GRCh38 Chromosome 1, 75745889: 75745889
26 ACADM NM_000016.5(ACADM): c.683C> A (p.Thr228Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs149678400 GRCh37 Chromosome 1, 76211574: 76211574
27 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201375579 GRCh37 Chromosome 1, 76215192: 76215192
28 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201375579 GRCh38 Chromosome 1, 75749507: 75749507
29 ACADM NM_000016.5(ACADM): c.882_883delAG (p.Arg294Serfs) deletion Pathogenic rs796051901 GRCh37 Chromosome 1, 76216168: 76216169
30 ACADM NM_000016.5(ACADM): c.882_883delAG (p.Arg294Serfs) deletion Pathogenic rs796051901 GRCh38 Chromosome 1, 75750483: 75750484
31 ACADM NM_000016.5(ACADM): c.1012C> G (p.Gln338Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 76226873: 76226873
32 ACADM NM_000016.5(ACADM): c.1012C> G (p.Gln338Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 75761188: 75761188
33 ACADM NM_000016.5(ACADM): c.1247T> C (p.Ile416Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760892123 GRCh37 Chromosome 1, 76228429: 76228429
34 ACADM NM_000016.5(ACADM): c.1247T> C (p.Ile416Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760892123 GRCh38 Chromosome 1, 75762744: 75762744
35 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
36 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
37 ACADM NM_000016.5(ACADM): c.999_1011dup (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs1225471006 GRCh37 Chromosome 1, 76226860: 76226872
38 ACADM NM_000016.5(ACADM): c.999_1011dup (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs1225471006 GRCh38 Chromosome 1, 75761175: 75761187
39 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
40 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh38 Chromosome 1, 75749509: 75749509
41 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
42 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh38 Chromosome 1, 75761300: 75761300
43 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
44 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh38 Chromosome 1, 75749440: 75749440
45 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
46 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
47 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
48 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh38 Chromosome 1, 75761278: 75761281
49 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
50 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh37 Chromosome 1, 76199269: 76199274

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:

38
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 ACADL ACADM ACADS ACADVL BTD HADHA
2
Show member pathways
12.43 ACADL ACADM ACADS ACADVL HADHA
3
Show member pathways
11.87 ACADM ACADS HADHA
4 11.74 ACADM HADHA
5
Show member pathways
11.57 ACADM ACADS HADHA
6
Show member pathways
11.54 ACADL ACADM ACADS ACADVL HADHA
7 11.38 ACADL ACADM
8
Show member pathways
11.17 ACADL ACADM ACADS ACADVL HADHA
9 11.14 ACADM ACADVL
10
Show member pathways
11.06 ACADS HADHA
11
Show member pathways
10.99 ACADM HADHA
12 10.94 ACADM HADHA
13
Show member pathways
10.75 ACADL ACADM ACADS ACADVL HADHA

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 mitochondrion GO:0005739 9.35 ACADL ACADM ACADS ACADVL HADHA
2 mitochondrial membrane GO:0031966 9.33 ACADL ACADM ACADVL
3 mitochondrial nucleoid GO:0042645 9.26 ACADVL HADHA
4 mitochondrial matrix GO:0005759 9.02 ACADL ACADM ACADS ACADVL BTD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 ACADL ACADM ACADS ACADVL HADHA
2 lipid metabolic process GO:0006629 9.65 ACADL ACADM ACADS ACADVL HADHA
3 fatty acid metabolic process GO:0006631 9.55 ACADL ACADM ACADS ACADVL HADHA
4 response to cold GO:0009409 9.49 ACADM ACADVL
5 temperature homeostasis GO:0001659 9.48 ACADL ACADVL
6 negative regulation of fatty acid biosynthetic process GO:0045717 9.46 ACADL ACADVL
7 regulation of cholesterol metabolic process GO:0090181 9.43 ACADL ACADVL
8 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADL ACADVL
9 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADL ACADM
10 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADL ACADM ACADS ACADVL
11 fatty acid beta-oxidation GO:0006635 9.02 ACADL ACADM ACADS ACADVL HADHA

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 9.72 ACADL ACADM ACADS ACADVL HADHA
2 flavin adenine dinucleotide binding GO:0050660 9.46 ACADL ACADM ACADS ACADVL
3 fatty-acyl-CoA binding GO:0000062 9.43 ACADL ACADVL HADHA
4 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADL ACADVL
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADL ACADM ACADS ACADVL
6 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACADL ACADM ACADS ACADVL

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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