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 57
Mcad Deficiency 57 25 59 74 37 55
Medium Chain Acyl-Coa Dehydrogenase Deficiency 12 25 59 15
Acadm Deficiency 57 25 59 74
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 57 59 74
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 57 75 13
Mcadh Deficiency 57 25 74
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 25 72
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 75 25
Acadmd 57 74
Mcadd 25 59
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 59
Acyl-Coa Dehydrogenase Medium-Chain Deficiency 74
Medium Chain Acyl Dehydrogenase Deficiency 72

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


External Ids:

Disease Ontology 12 DOID:0080153
OMIM 57 201450
KEGG 37 H00488
MeSH 44 D008052
MESH via Orphanet 45 C536038
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0220710
Orphanet 59 ORPHA42
MedGen 42 C0220710
UMLS 72 C0220710 C1979921

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 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 testes, 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.

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)

KEGG : 37
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 : 74 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 : 75 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 74)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 30.7 HADHA HADH ACADVL ACADS ACADL
2 reye syndrome 30.4 HADHA ACADM
3 organic acidemia 29.9 BTD ACADS ACADM
4 atrial standstill 1 29.8 HADHA ACADVL
5 hypoglycemia 29.6 HADH ACADVL ACADM ACADL
6 phenylketonuria 29.2 HADHA BTD ACADM
7 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.9
8 acyl-coa dehydrogenase deficiency 10.6
9 hypotonia 10.5
10 ocular motor apraxia 10.5
11 sudden infant death syndrome 10.5
12 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
13 isovaleric acidemia 10.4
14 metabolic acidosis 10.4
15 fasting hypoglycemia 10.4
16 abdominal obesity-metabolic syndrome 1 10.4
17 inherited metabolic disorder 10.3
18 lipoid congenital adrenal hyperplasia 10.3
19 alpha-methylacetoacetic aciduria 10.3
20 cystic fibrosis 10.3
21 galactokinase deficiency 10.3
22 galactosemia 10.3
23 orotic aciduria 10.3
24 ornithine transcarbamylase deficiency, hyperammonemia due to 10.3
25 congenital hypothyroidism 10.3
26 hypothyroidism 10.3
27 hyperuricemia 10.3
28 sickle cell disease 10.3
29 abetalipoproteinemia 10.3
30 rett syndrome 10.3
31 retinitis pigmentosa 11 10.3
32 cyanosis, transient neonatal 10.3
33 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
34 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
35 dilated cardiomyopathy 10.3
36 hellp syndrome 10.3
37 methylmalonic acidemia 10.3
38 ventricular septal defect 10.3
39 heart septal defect 10.3
40 duodenal ulcer 10.3
41 status epilepticus 10.3
42 epilepsy 10.3
43 cerebral palsy 10.3
44 glycogen storage disease 10.3
45 hyperglycemia 10.3
46 myopathy 10.3
47 encephalopathy 10.3
48 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
49 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
50 autosomal recessive disease 10.2

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:

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 generalized hypotonia 32 HP:0001290
8 hepatic steatosis 32 HP:0001397
9 elevated hepatic transaminase 32 HP:0002910
10 coma 32 HP:0001259
11 lethargy 32 HP:0001254
12 metabolic acidosis 32 HP:0001942
13 cerebral edema 32 HP:0002181
14 decreased plasma carnitine 32 HP:0003234
15 hyperglycinuria 32 HP:0003108
16 medium chain dicarboxylic aciduria 32 HP:0008309

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
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 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 ACADL ACADS HADH 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 ACADL ACADM ACADS ACADVL BTD HADH
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 9.02 ACADL ACADS BTD HADH 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):


# 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 (Ravictiâ„¢) 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:

41
Liver, Brain, Testes, Skin, Cortex, Whole Blood, Kidney

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

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

(show top 50) (show all 282)
# 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. 9 38 8 71
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? 9 38 8 71
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. 38 8 71
23574375 2014
4
Molecular and functional characterisation of mild MCAD deficiency. 38 8 71
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. 38 8 71
1361190 1992
6
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. 8 71
7603790 1995
7
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. 8 71
3786030 1986
8
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. 9 38 71
11346377 2001
9
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. 9 38 8
9797589 1998
10
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. 9 38 8
9797590 1998
11
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands. 9 38 71
8682492 1996
12
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. 9 38 71
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. 9 38 71
7904584 1993
14
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. 9 38 8
8488845 1993
15
Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome. 9 38 71
1570195 1992
16
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects. 9 38 71
1601002 1992
17
Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death. 9 38 71
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. 9 38 71
1684086 1991
19
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. 9 38 71
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. 9 38 71
1902818 1991
21
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome. 9 38 8
2279505 1990
22
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 9 38 8
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. 38 71
17273963 2007
24
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 38 71
20301597 2000
25
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. 38 71
11263545 1999
26
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 38 71
1729890 1992
27
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population. 38 71
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. 38 71
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. 38 71
2394825 1990
30
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. 38 8
2246856 1990
31
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. 38 8
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. 38 8
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. 71
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. 71
15479234 2004
35
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. 8
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. 8
11486898 2001
37
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. 71
11486912 2001
38
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. 71
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. 71
8770876 1996
40
Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway? 71
7720752 1995
41
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. 8
8120710 1994
42
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. 71
1447668 1992
43
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. 71
2046713 1991
44
Frequency of the G985 MCAD mutation in the general population. 71
1671131 1991
45
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. 71
2251268 1990
46
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. 71
1972503 1990
47
Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples. 8
2143242 1990
48
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. 8
2502671 1989
49
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. 8
3822638 1987
50
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. 8
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 214)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACADM NM_000016.5(ACADM): c.989_1010del (p.Val330fs) deletion Pathogenic rs1553127172 1:76226850-76226871 1:75761165-75761186
2 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 1:76226985-76226985 1:75761300-75761300
3 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 1:76215125-76215125 1:75749440-75749440
4 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 1:76200535-76200535 1:75734850-75734850
5 ACADM NM_000016.5(ACADM): c.1102_1105del (p.Ala369fs) deletion Pathogenic rs387906297 1:76226963-76226966 1:75761278-75761281
6 ACADM NM_000016.5(ACADM): c.343_348del (p.Gly115_Cys116del) deletion Pathogenic rs864621963 1:76199269-76199274 1:75733584-75733589
7 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 1:76205773-76205773 1:75740088-75740088
8 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 1:76215237-76215237 1:75749552-75749552
9 ACADM NM_000016.5(ACADM): c.-6_6delinsACCCCGAAGG (p.Met1fs) indel Pathogenic rs875989865 1:76190467-76190478 1:75724782-75724793
10 ACADM NM_000016.5(ACADM): c.322_325del (p.Ile108fs) deletion Pathogenic rs875989873 1:76199248-76199251 1:75733563-75733566
11 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 1:76200552-76200552 1:75734867-75734867
12 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 1:76205664-76205664 1:75739979-75739979
13 ACADM NM_000016.5(ACADM): c.1189dup (p.Tyr397fs) duplication Pathogenic rs875989877 1:76227050-76227050 1:75761365-75761365
14 ACADM NM_000016.5(ACADM): c.946-2A> C single nucleotide variant Pathogenic rs758753966 1:76226805-76226805 1:75761120-75761120
15 ACADM NM_000016.5(ACADM): c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) indel Pathogenic 1:76215189-76215198 1:75749504-75749513
16 ACADM NM_000016.5(ACADM): c.217-1G> A single nucleotide variant Pathogenic 1:76198537-76198537 1:75732852-75732852
17 ACADM NC_000001.10: g.(?_76007120)_(76540569_?)del deletion Pathogenic 1:76007120-76540569 1:75541435-76074884
18 ACADM NC_000001.10: g.(?_76226787)_(76228468_?)del deletion Pathogenic 1:76226787-76228468 1:75761102-75762783
19 ACADM NM_000016.5(ACADM): c.165del (p.Phe55fs) deletion Pathogenic 1:76198375-76198375 1:75732690-75732690
20 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer) insertion Pathogenic rs875989874 1:76226873-76226874 1:75761188-75761189
21 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 1:76226873-76226873 1:75761188-75761188
22 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 1:76226846-76226846 1:75761161-75761161
23 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 1:76215137-76215137 1:75749452-75749452
24 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 1:76211500-76211500 1:75745815-75745815
25 ACADM NM_000016.5(ACADM): c.880_881AG[1] (p.Arg294fs) short repeat Pathogenic rs796051901 1:76216168-76216169 1:75750483-75750484
26 ACADM NM_000016.5(ACADM): c.426del (p.Lys143fs) deletion Pathogenic rs777998984 1:76200514-76200514 1:75734829-75734829
27 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 1:76198554-76198554 1:75732869-75732869
28 ACADM NM_000016.5(ACADM): c.946-6T> G single nucleotide variant Pathogenic rs765793260 1:76226801-76226801 1:75761116-75761116
29 ACADM NM_000016.5(ACADM): c.1194+1G> A single nucleotide variant Pathogenic rs769331400 1:76227056-76227056 1:75761371-75761371
30 ACADM NM_000016.5(ACADM): c.47del (p.Ser16fs) deletion Pathogenic rs1325949559 1:76194102-76194102 1:75728417-75728417
31 ACADM NM_000016.5(ACADM): c.1190A> C (p.Tyr397Ser) single nucleotide variant Pathogenic rs1553127216 1:76227051-76227051 1:75761366-75761366
32 ACADM NM_000016.5(ACADM): c.387+1G> A single nucleotide variant Pathogenic rs1057516983 1:76199314-76199314 1:75733629-75733629
33 ACADM NM_000016.5(ACADM): c.425del (p.Lys142fs) deletion Pathogenic rs886042087 1:76200513-76200513 1:75734828-75734828
34 ACADM NM_000016.5(ACADM): c.431_434del (p.Lys144fs) deletion Pathogenic rs1057517356 1:76200519-76200522 1:75734834-75734837
35 ACADM NM_000016.5(ACADM): c.397_399ATT[2] (p.Ile135del) short repeat Pathogenic 1:76200484-76200486 1:75734800-75734802
36 ACADM NM_000016.5(ACADM): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic 1:76194122-76194122 1:75728437-75728437
37 ACADM NM_000016.5(ACADM): c.599+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs148260275 1:76205797-76205797 1:75740112-75740112
38 ACADM NM_000016.5(ACADM): c.843A> T (p.Arg281Ser) single nucleotide variant Pathogenic/Likely pathogenic rs780504551 1:76215238-76215238 1:75749553-75749553
39 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 1:76198367-76198367 1:75732682-75732682
40 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic/Likely pathogenic rs200724875 1:76211508-76211508 1:75745823-75745823
41 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 1:76211507-76211507 1:75745822-75745822
42 ACADM NM_000016.5(ACADM): c.443G> A (p.Arg148Lys) single nucleotide variant Pathogenic/Likely pathogenic rs778906552 1:76200531-76200531 1:75734846-75734846
43 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 1:76226906-76226906 1:75761221-75761221
44 ACADM NM_000016.5(ACADM): c.449_452del (p.Thr150fs) deletion Pathogenic/Likely pathogenic rs786204642 1:76200537-76200540 1:75734852-75734855
45 ACADM NM_000016.5(ACADM): c.244dup (p.Trp82fs) duplication Pathogenic/Likely pathogenic rs786204566 1:76198565-76198565 1:75732880-75732880
46 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201375579 1:76215192-76215192 1:75749507-75749507
47 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Pathogenic/Likely pathogenic rs370523609 1:76211473-76211473 1:75745788-75745788
48 ACADM NM_000016.5(ACADM): c.984del (p.Met328fs) deletion Pathogenic/Likely pathogenic rs747610156 1:76226845-76226845 1:75761160-75761160
49 ACADM NM_000016.5(ACADM): c.926dup (p.Gly310fs) duplication Pathogenic/Likely pathogenic rs875989864 1:76216212-76216212 1:75750527-75750527
50 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 1:76216167-76216167 1:75750482-75750482

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

74 (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:

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 HADHA HADH BTD ACADVL ACADS ACADM
2
Show member pathways
12.41 HADHA HADH ACADVL ACADS ACADM ACADL
3
Show member pathways
11.96 HADHA ACADS ACADM
4
Show member pathways
11.7 HADHA HADH ACADS ACADM
5 11.51 HADH ACADM
6 11.42 ACADM ACADL
7 11.29 HADHA HADH
8
Show member pathways
11.25 HADHA HADH ACADVL ACADS ACADM ACADL
9
Show member pathways
11.23 HADH ACADL
10 11.22 HADH ACADVL ACADM
11
Show member pathways
11.12 HADHA HADH ACADS
12
Show member pathways
11.05 HADHA ACADM
13 11.01 HADHA ACADM
14
Show member pathways
10.82 HADHA HADH ACADVL ACADS ACADM ACADL
15
Show member pathways
10.43 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 mitochondrion GO:0005739 9.43 HADHA HADH ACADVL ACADS ACADM ACADL
2 mitochondrial membrane GO:0031966 9.33 ACADVL ACADM ACADL
3 mitochondrial nucleoid GO:0042645 9.26 HADHA ACADVL
4 mitochondrial matrix GO:0005759 9.1 HADH BTD ACADVL ACADS ACADM ACADL

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 HADHA HADH ACADVL ACADS ACADM ACADL
2 lipid metabolic process GO:0006629 9.73 HADHA HADH ACADVL ACADS ACADM ACADL
3 positive regulation of cold-induced thermogenesis GO:0120162 9.52 HADH ACADL
4 response to insulin GO:0032868 9.51 HADHA HADH
5 response to cold GO:0009409 9.49 ACADVL ACADM
6 temperature homeostasis GO:0001659 9.48 ACADVL ACADL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.46 ACADVL ACADL
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.46 ACADVL ACADS ACADM ACADL
9 regulation of cholesterol metabolic process GO:0090181 9.43 ACADVL ACADL
10 fatty acid metabolic process GO:0006631 9.43 HADHA HADH ACADVL ACADS ACADM ACADL
11 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADVL ACADL
12 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADM ACADL
13 fatty acid beta-oxidation GO:0006635 9.1 HADHA HADH ACADVL ACADS ACADM ACADL

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 9.63 HADHA HADH ACADVL ACADS ACADM ACADL
2 flavin adenine dinucleotide binding GO:0050660 9.56 ACADVL ACADS ACADM ACADL
3 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACADL
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.4 HADHA HADH
5 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADVL ACADL
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADVL ACADS ACADM ACADL
7 acyl-CoA dehydrogenase activity GO:0003995 8.92 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 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
Content
Loading form....