MCADD
MCID: MDM001
MIFTS: 33

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD)

Categories: Rare diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards integrated aliases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 25 20 29 6 39 70
Mcad Deficiency 25 20
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 20
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 20
Medium Chain Acyl Coa Dehydrogenase Deficiency 20
Medium Chain Acyl Dehydrogenase Deficiency 70
Acadm Deficiency 20
Mcadh Deficiency 20
Mcadd 20

Classifications:



External Ids:

UMLS 70 C0220710 C1979921

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GARD : 20 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death.

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium-chain, deficiency of and hypoglycemia, and has symptoms including seizures, vomiting and lethargy. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase Medium Chain). The drugs Glycerol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include whole blood, cortex and skeletal muscle.

Wikipedia : 73 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD), is a disorder of fatty acid... more...

GeneReviews: NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, medium-chain, deficiency of 11.9
2 hypoglycemia 10.8
3 inherited metabolic disorder 10.7
4 reye syndrome 10.6
5 acyl-coa dehydrogenase deficiency 10.6
6 sudden infant death syndrome 10.5
7 organic acidemia 10.5
8 hypotonia 10.5
9 ocular motor apraxia 10.4
10 abdominal obesity-metabolic syndrome 1 10.4
11 autosomal recessive disease 10.4
12 encephalopathy 10.4
13 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
14 fasting hypoglycemia 10.4
15 lipoid congenital adrenal hyperplasia 10.3
16 alpha-methylacetoacetic aciduria 10.3
17 cystic fibrosis 10.3
18 galactosemia i 10.3
19 isovaleric acidemia 10.3
20 orotic aciduria 10.3
21 phenylketonuria 10.3
22 abnormal hair, joint laxity, and developmental delay 10.3
23 ornithine transcarbamylase deficiency, hyperammonemia due to 10.3
24 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
25 congenital hypothyroidism 10.3
26 metabolic acidosis 10.3
27 cardiac arrest 10.3
28 hypothyroidism 10.3
29 hypoglycemic coma 10.3
30 hyperuricemia 10.3
31 cerebral palsy 10.3
32 fatty liver disease 10.3
33 sickle cell disease 10.3
34 atrial standstill 1 10.3
35 abetalipoproteinemia 10.3
36 rett syndrome 10.3
37 retinitis pigmentosa 11 10.3
38 cyanosis, transient neonatal 10.3
39 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
40 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
41 dilated cardiomyopathy 10.3
42 hellp syndrome 10.3
43 methylmalonic acidemia 10.3
44 ventricular septal defect 10.3
45 heart septal defect 10.3
46 duodenal ulcer 10.3
47 status epilepticus 10.3
48 glycogen storage disease 10.3
49 hyperglycemia 10.3
50 myopathy 10.3

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



Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


seizures; vomiting; lethargy

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drugs for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (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 Protective Agents Phase 1
3 4-phenylbutyric acid 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 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 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

40
Whole Blood, Cortex, Skeletal Muscle, Skin

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show top 50) (show all 402)
# Title Authors PMID Year
1
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. 6 25 61
31012112 2019
2
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 6 61 25
27943070 2017
3
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 6 25 61
27856190 2016
4
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 61 25 6
27477829 2016
5
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 6 25 61
26947917 2016
6
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 25 6 61
26223887 2015
7
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 25 6 61
24966162 2014
8
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 6 25 61
24623196 2014
9
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. 25 6 61
24799540 2014
10
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 61 6 25
23509891 2013
11
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 25 6 61
23095120 2012
12
MCAD deficiency in Denmark. 61 25 6
22542437 2012
13
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 61 25 6
22630369 2012
14
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 6 25 61
23028790 2012
15
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 6 25 61
20434380 2010
16
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 6 25 61
20036593 2010
17
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. 61 25 6
16972171 2006
18
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. 61 25 6
16737882 2006
19
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. 61 6 25
16763904 2006
20
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. 25 6 61
15915086 2005
21
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. 25 6 61
11349232 2001
22
Molecular and functional characterisation of mild MCAD deficiency. 25 6 61
11409868 2001
23
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. 61 6 25
9797589 1998
24
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 25 6 61
7904584 1993
25
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. 6 61 25
3786030 1986
26
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 6 25
25940036 2015
27
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. 6 25
25763512 2015
28
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 6 25
24718418 2014
29
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. 6 25
23842438 2013
30
Fatty Acid oxidation disorders in a chinese population in taiwan. 25 6
23700290 2013
31
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 25 6
24294134 2013
32
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 6 25
22848008 2012
33
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency. 25 6
21239873 2011
34
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. 6 25
20567907 2010
35
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. 25 6
19780764 2009
36
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. 6 25
18450854 2008
37
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 25
18241067 2008
38
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. 6 25
16617240 2006
39
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 6 25
16291504 2006
40
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 6 25
15832312 2005
41
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. 25 6
11486912 2001
42
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. 25 6
7633427 1995
43
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population. 61 6
31033143 2019
44
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 6 61
29519241 2018
45
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 61 6
27308838 2017
46
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. 6 61
26215884 2015
47
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 6 61
25503862 2015
48
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. 6 61
23574375 2014
49
Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism. 61 6
21704015 2011
50
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. 61 6
20580581 2010

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

ClinVar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

6 (show top 50) (show all 309)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACADM NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr) SNV Pathogenic 3589 rs121434275 GRCh37: 1:76226985-76226985
GRCh38: 1:75761300-75761300
2 ACADM NM_000016.5(ACADM):c.730T>C (p.Cys244Arg) SNV Pathogenic 3590 rs121434276 GRCh37: 1:76215125-76215125
GRCh38: 1:75749440-75749440
3 ACADM NM_000016.5(ACADM):c.447G>A (p.Met149Ile) SNV Pathogenic 3591 rs121434277 GRCh37: 1:76200535-76200535
GRCh38: 1:75734850-75734850
4 ACADM NM_000016.5(ACADM):c.842G>C (p.Arg281Thr) SNV Pathogenic 3596 rs121434282 GRCh37: 1:76215237-76215237
GRCh38: 1:75749552-75749552
5 ACADM NM_000016.5(ACADM):c.469-1G>A SNV Pathogenic 226091 rs875989869 GRCh37: 1:76205664-76205664
GRCh38: 1:75739979-75739979
6 ACADM NM_000016.5(ACADM):c.464T>C (p.Met155Thr) SNV Pathogenic 226106 rs875989876 GRCh37: 1:76200552-76200552
GRCh38: 1:75734867-75734867
7 ACADM NM_000016.5(ACADM):c.742A>G (p.Arg248Gly) SNV Pathogenic 226089 rs875989867 GRCh37: 1:76215137-76215137
GRCh38: 1:75749452-75749452
8 ACADM NM_000016.5(ACADM):c.-6_6delinsACCCCGAAGG (p.Met1fs) Indel Pathogenic 226085 rs875989865 GRCh37: 1:76190467-76190478
GRCh38: 1:75724782-75724793
9 ACADM NM_000016.5(ACADM):c.322_325del (p.Ile108fs) Deletion Pathogenic 226102 rs875989873 GRCh37: 1:76199245-76199248
GRCh38: 1:75733560-75733563
10 ACADM NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter) SNV Pathogenic 226087 rs796051896 GRCh37: 1:76226873-76226873
GRCh38: 1:75761188-75761188
11 ACADM NM_000016.5(ACADM):c.1189dup (p.Tyr397fs) Duplication Pathogenic 226109 rs875989877 GRCh37: 1:76227049-76227050
GRCh38: 1:75761364-75761365
12 ACADM NM_000016.5(ACADM):c.985A>C (p.Lys329Gln) SNV Pathogenic 226057 rs77931234 GRCh37: 1:76226846-76226846
GRCh38: 1:75761161-75761161
13 ACADM NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer) Insertion Pathogenic 226103 rs875989874 GRCh37: 1:76226872-76226873
GRCh38: 1:75761187-75761188
14 ACADM NM_000016.5(ACADM):c.989_1010del (p.Val330fs) Deletion Pathogenic 458791 rs1553127172 GRCh37: 1:76226850-76226871
GRCh38: 1:75761165-75761186
15 ACADM NM_000016.5(ACADM):c.1190A>C (p.Tyr397Ser) SNV Pathogenic 528453 rs1553127216 GRCh37: 1:76227051-76227051
GRCh38: 1:75761366-75761366
16 ACADM NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) SNV Pathogenic 497550 rs398123075 GRCh37: 1:76198574-76198574
GRCh38: 1:75732889-75732889
17 ACADM NM_001286042.1(ACADM):c.10+3600del Deletion Pathogenic 528454 rs1325949559 GRCh37: 1:76194102-76194102
GRCh38: 1:75728417-75728417
18 ACADM NM_001286044.1(ACADM):c.-100+1906del Deletion Pathogenic 458787 rs886042087 GRCh37: 1:76200510-76200510
GRCh38: 1:75734825-75734825
19 ACADM NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) Indel Pathogenic 569821 rs1557457623 GRCh37: 1:76215189-76215198
GRCh38: 1:75749504-75749513
20 ACADM NM_000016.5(ACADM):c.67C>T (p.Gln23Ter) SNV Pathogenic 665907 rs1570851702 GRCh37: 1:76194122-76194122
GRCh38: 1:75728437-75728437
21 ACADM NC_000001.11:g.(?_75761102)_(75762783_?)del Deletion Pathogenic 583848 GRCh37: 1:76226787-76228468
GRCh38: 1:75761102-75762783
22 overlap with 10 genes NC_000001.11:g.(?_75541435)_(76074884_?)del Deletion Pathogenic 584254 GRCh37: 1:76007120-76540569
GRCh38: 1:75541435-76074884
23 ACADM NM_000016.5(ACADM):c.217-1G>A SNV Pathogenic 643196 rs1570861829 GRCh37: 1:76198537-76198537
GRCh38: 1:75732852-75732852
24 ACADM NM_001286044.1(ACADM):c.-100+1877TAT[2] Microsatellite Pathogenic 650461 rs1570866192 GRCh37: 1:76200484-76200486
GRCh38: 1:75734799-75734801
25 ACADM NM_001286044.1(ACADM):c.-221del Deletion Pathogenic 576994 rs1319192670 GRCh37: 1:76198373-76198373
GRCh38: 1:75732688-75732688
26 ACADM NC_000001.11:g.(?_75724768)_(75762783_?)del Deletion Pathogenic 830699 GRCh37: 1:76190453-76228468
GRCh38:
27 ACADM NC_000001.11:g.(?_75724768)_(75724837_?)del Deletion Pathogenic 831210 GRCh37: 1:76190453-76190522
GRCh38:
28 ACADM NC_000001.11:g.(?_75724778)_(75762773_?)del Deletion Pathogenic 831248 GRCh37: 1:76190463-76228458
GRCh38:
29 ACADM NC_000001.11:g.(?_75724778)_(75724827_?)del Deletion Pathogenic 832116 GRCh37: 1:76190463-76190512
GRCh38:
30 ACADM NC_000001.11:g.(?_75761112)_(75762773_?)del Deletion Pathogenic 832399 GRCh37: 1:76226797-76228458
GRCh38:
31 ACADM NC_000001.11:g.(?_75724778)_(75750556_?)del Deletion Pathogenic 833092 GRCh37: 1:76190463-76216241
GRCh38:
32 ACADM NM_000016.6(ACADM):c.973dup (p.Glu325fs) Duplication Pathogenic 834525 GRCh37: 1:76226833-76226834
GRCh38: 1:75761148-75761149
33 ACADM NM_000016.5(ACADM):c.927del (p.Phe309fs) Deletion Pathogenic 593740 rs1557458562 GRCh37: 1:76216213-76216213
GRCh38: 1:75750528-75750528
34 ACADM NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu) SNV Pathogenic 843524 GRCh37: 1:76226946-76226946
GRCh38: 1:75761261-75761261
35 ACADM NM_000016.6(ACADM):c.333_345del (p.Glu111fs) Deletion Pathogenic 849706 GRCh37: 1:76199257-76199269
GRCh38: 1:75733572-75733584
36 ACADM NM_000016.6(ACADM):c.982A>G (p.Met328Val) SNV Pathogenic 859269 GRCh37: 1:76226843-76226843
GRCh38: 1:75761158-75761158
37 ACADM NM_000016.6(ACADM):c.686del (p.Pro229fs) Deletion Pathogenic 862822 GRCh37: 1:76211574-76211574
GRCh38: 1:75745889-75745889
38 ACADM NM_000016.6(ACADM):c.216+2T>C SNV Pathogenic 811864 rs398123073 GRCh37: 1:76198428-76198428
GRCh38: 1:75732743-75732743
39 ACADM NM_000016.6(ACADM):c.608T>A (p.Leu203Ter) SNV Pathogenic 842222 GRCh37: 1:76211499-76211499
GRCh38: 1:75745814-75745814
40 ACADM NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) SNV Pathogenic 950466 GRCh37: 1:76226903-76226903
GRCh38: 1:75761218-75761218
41 ACADM NM_000016.6(ACADM):c.601del (p.Tyr201fs) Deletion Pathogenic 960879 GRCh37: 1:76211492-76211492
GRCh38: 1:75745807-75745807
42 ACADM NM_000016.6(ACADM):c.104T>G (p.Leu35Ter) SNV Pathogenic 964031 GRCh37: 1:76194159-76194159
GRCh38: 1:75728474-75728474
43 ACADM NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) SNV Pathogenic 203539 rs770273135 GRCh37: 1:76211589-76211589
GRCh38: 1:75745904-75745904
44 ACADM NM_001286042.1(ACADM):c.10+3639G>T SNV Pathogenic 203537 GRCh37: 1:76194141-76194141
GRCh38: 1:75728456-75728456
45 ACADM NM_000016.5(ACADM):c.387+1del Deletion Pathogenic 188719 rs786204424 GRCh37: 1:76199310-76199310
GRCh38: 1:75733625-75733625
46 ACADM NM_000016.5(ACADM):c.449_452del (p.Thr150fs) Deletion Pathogenic 189036 rs786204642 GRCh37: 1:76200534-76200537
GRCh38: 1:75734849-75734852
47 ACADM NM_000016.5(ACADM):c.1114dup (p.Ala372fs) Duplication Pathogenic 370160 rs1057516278 GRCh37: 1:76226974-76226975
GRCh38: 1:75761289-75761290
48 ACADM NM_000016.5(ACADM):c.387+1G>A SNV Pathogenic 371544 rs1057516983 GRCh37: 1:76199314-76199314
GRCh38: 1:75733629-75733629
49 ACADM NM_000016.6(ACADM):c.85C>T (p.Arg29Ter) SNV Pathogenic 928650 GRCh37: 1:76194140-76194140
GRCh38: 1:75728455-75728455
50 ACADM NM_001286044.1(ACADM):c.-100+1907del Deletion Pathogenic 203548 rs777998984 GRCh37: 1:76200514-76200514
GRCh38: 1:75734829-75734829

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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