MCID: ACY009
MIFTS: 54

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of

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 57
Mcad Deficiency 57 25 59 75 37 55
Medium Chain Acyl-Coa Dehydrogenase Deficiency 12 25 59 15
Acadm Deficiency 57 25 59 75
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 57 59 75
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 57 76 13
Mcadh Deficiency 57 25 75
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 25 73
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 76 25
Acadmd 57 75
Mcadd 25 59
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 59
Acyl-Coa Dehydrogenase Medium-Chain Deficiency 75
Medium Chain Acyl Dehydrogenase Deficiency 73

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
acyl-coa dehydrogenase, medium-chain, deficiency of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


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

OMIM : 57 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 medium-chain acyl-coenzyme a dehydrogenase deficiency and carnitine palmitoyltransferase ii deficiency, infantile, and has symptoms including lethargy, seizures and vomiting. 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, skin and brain, 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 : 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).

UniProtKB/Swiss-Prot : 75 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 : 76 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 hepatomegaly 32 HP:0002240
5 vomiting 32 HP:0002013
6 hypoglycemia 32 HP:0001943
7 hepatic steatosis 32 HP:0001397
8 elevated hepatic transaminases 32 HP:0002910
9 coma 32 HP:0001259
10 lethargy 32 HP:0001254
11 metabolic acidosis 32 HP:0001942
12 cerebral edema 32 HP:0002181
13 generalized hypotonia 32 HP:0001290
14 decreased plasma carnitine 32 HP:0003234
15 hyperglycinuria 32 HP:0003108
16 medium chain dicarboxylic aciduria 32 HP:0008309

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


lethargy, seizures, vomiting

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 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 ACAD8 ACADL ACADS HADHA

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 BTD HADHA ACAD8 ACADL ACADM ACADS
2 liver/biliary system MP:0005370 9.63 ACAD8 ACADL ACADM ACADS ACADVL HADHA
3 muscle MP:0005369 9.35 ACADM ACADS ACADVL BTD HADHA
4 renal/urinary system MP:0005367 9.02 ACAD8 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 16)
# 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 Anticoagulants Not Applicable
6 calcium heparin Not Applicable
7 Calcium, Dietary Not Applicable
8 Fat Emulsions, Intravenous Not Applicable
9 Fibrinolytic Agents Not Applicable
10 Hypoglycemic Agents Not Applicable
11 insulin Not Applicable
12 Insulin, Globin Zinc Not Applicable
13 Parenteral Nutrition Solutions Not Applicable
14 Pharmaceutical Solutions Not Applicable
15 Soybean oil, phospholipid emulsion Not Applicable
16 Soy Bean Nutraceutical 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

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:

41
Liver, Skin, Brain, Whole Blood, Cortex

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

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

(show all 50)
# 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
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing. ( 23546811 )
2013
5
MCAD deficiency in Denmark. ( 22542437 )
2012
6
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. ( 20036593 )
2010
7
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. ( 20434380 )
2010
8
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
9
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
10
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada. ( 18767270 )
2008
11
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency. ( 17987455 )
2007
12
Acute liver failure in pregnancy associated with maternal MCAD deficiency. ( 17186412 )
2007
13
Safe and unsafe duration of fasting for children with MCAD deficiency. ( 16788829 )
2007
14
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. ( 16677980 )
2006
15
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. ( 16972171 )
2006
16
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. ( 15915086 )
2005
17
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. ( 15870827 )
2005
18
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. ( 15877203 )
2005
19
Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 15858970 )
2005
20
Inhibition of energy metabolism in cerebral cortex of young rats by the medium-chain fatty acids accumulating in MCAD deficiency. ( 15567346 )
2004
21
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. ( 14648909 )
2003
22
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
23
Molecular and functional characterization of mild MCAD deficiency. ( 11409868 )
2001
24
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
25
Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 11101700 )
2000
26
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 10913960 )
2000
27
Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population. ( 11400780 )
1999
28
A rapid MRI technique for the assessment of hepatic steatosis in a subject with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. ( 9702659 )
1998
29
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. ( 9365395 )
1997
30
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? ( 9158144 )
1997
31
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
32
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands. ( 8682492 )
1996
33
Investigation of beta-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. ( 7551818 )
1995
34
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
35
[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
36
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA. ( 7807932 )
1994
37
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele. ( 7967471 )
1994
38
Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme. ( 7917465 )
1994
39
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats. ( 8099254 )
1993
40
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. ( 8488845 )
1993
41
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). ( 8127075 )
1993
42
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. ( 7904584 )
1993
43
Characterization of medium-chain acyl-CoA dehydrogenase (MCAD) with a point mutation associated with MCAD deficiency. ( 1438390 )
1992
44
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ( 1729890 )
1992
45
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]. ( 1539377 )
1992
46
Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). ( 1438393 )
1992
47
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. ( 1684086 )
1991
48
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. ( 1902818 )
1991
49
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. ( 1769118 )
1991
50
Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children. ( 2326301 )
1990

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

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

75 (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
18 ACADM p.Gly310Arg VAR_015958 rs747268471
19 ACADM p.Tyr352Cys VAR_015959

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

6
(show top 50) (show all 307)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
3 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
4 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh38 Chromosome 1, 75761175: 75761187
5 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
6 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh38 Chromosome 1, 75749509: 75749509
7 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
8 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh38 Chromosome 1, 75761300: 75761300
9 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
10 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh38 Chromosome 1, 75749440: 75749440
11 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
12 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
13 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
14 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh38 Chromosome 1, 75761278: 75761281
15 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
16 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh37 Chromosome 1, 76199269: 76199274
17 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
18 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh38 Chromosome 1, 75740094: 75740094
19 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
20 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh38 Chromosome 1, 75740088: 75740088
21 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
22 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh38 Chromosome 1, 75749552: 75749552
23 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
24 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh38 Chromosome 1, 75749444: 75749444
25 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
26 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh38 Chromosome 1, 75733603: 75733603
27 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
28 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh38 Chromosome 1, 75732682: 75732682
29 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
30 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh38 Chromosome 1, 75732743: 75732743
31 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
32 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh38 Chromosome 1, 75732869: 75732869
33 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh37 Chromosome 1, 76198574: 76198574
34 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh38 Chromosome 1, 75732889: 75732889
35 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh37 Chromosome 1, 76199277: 76199277
36 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh38 Chromosome 1, 75733592: 75733592
37 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh37 Chromosome 1, 76211507: 76211507
38 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh38 Chromosome 1, 75745822: 75745822
39 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
40 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh38 Chromosome 1, 75745823: 75745823
41 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
42 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh38 Chromosome 1, 75732880: 75732880
43 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh38 Chromosome 1, 75733629: 75733629
44 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh37 Chromosome 1, 76199314: 76199314
45 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
46 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh38 Chromosome 1, 75734852: 75734855
47 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh38 Chromosome 1, 75750449: 75750449
48 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh37 Chromosome 1, 76216134: 76216134
49 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh38 Chromosome 1, 75761153: 75761153
50 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh37 Chromosome 1, 76226838: 76226838

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:

37
# 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
13.58 ACAD8 ACADL ACADM ACADS ACADVL BTD
2
Show member pathways
12.49 ACADL ACADM ACADS ACADVL HADHA
3
Show member pathways
11.93 ACADM ACADS HADHA
4
Show member pathways
11.63 ACAD8 ACADM ACADS HADHA
5
Show member pathways
11.52 ACADL ACADM ACADS ACADVL HADHA
6 11.38 ACADL ACADM
7
Show member pathways
11.17 ACADL ACADM ACADS ACADVL HADHA
8 11.15 ACADM ACADVL
9
Show member pathways
11.07 ACADS HADHA
10
Show member pathways
11.01 ACADM HADHA
11 10.96 ACADM HADHA
12
Show member pathways
10.75 ACADL ACADM ACADS ACADVL HADHA
13
Show member pathways
10.37 ACADM 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 9.43 ACAD8 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 9.1 ACAD8 ACADL ACADM ACADS ACADVL BTD

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 ACAD8 ACADL ACADM ACADS ACADVL HADHA
2 lipid metabolic process GO:0006629 9.8 ACAD8 ACADL ACADM ACADS ACADVL HADHA
3 metabolic process GO:0008152 9.73 ACAD8 ACADL ACADM ACADS ACADVL HADHA
4 fatty acid metabolic process GO:0006631 9.55 ACADL ACADM ACADS ACADVL HADHA
5 response to cold GO:0009409 9.51 ACADM ACADVL
6 temperature homeostasis GO:0001659 9.49 ACADL ACADVL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.48 ACADL ACADVL
8 regulation of cholesterol metabolic process GO:0090181 9.46 ACADL ACADVL
9 negative regulation of fatty acid oxidation GO:0046322 9.43 ACADL ACADVL
10 carnitine metabolic process, CoA-linked GO:0019254 9.4 ACADL ACADM
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADL ACADM ACADS ACADVL
12 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 9.73 ACAD8 ACADL ACADM ACADS ACADVL HADHA
2 flavin adenine dinucleotide binding GO:0050660 9.55 ACAD8 ACADL ACADM ACADS ACADVL
3 fatty-acyl-CoA binding GO:0000062 9.5 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 9.35 ACAD8 ACADL ACADM ACADS ACADVL
6 acyl-CoA dehydrogenase activity GO:0003995 9.02 ACAD8 ACADL ACADM ACADS ACADVL

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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