MCID: MLT118
MIFTS: 56

Multiple Acyl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Multiple Acyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Multiple Acyl-Coa Dehydrogenase Deficiency:

Name: Multiple Acyl-Coa Dehydrogenase Deficiency 57 12 53 25 59 75 75 75 15
Madd 57 12 53 25 59 75
Glutaric Acidemia Iia 57 29 13 6 73
Ethylmalonic-Adipicaciduria 57 53 25 75
Glutaric Acidemia Iib 57 29 6 73
Ema 57 53 25 75
Glutaric Aciduria, Type 2 25 29 6
Glutaric Acidemia Type 2 12 53 59
Glutaric Acidemia Iic 57 29 6
Ga Ii 57 25 55
Multiple Acyl Coenzyme a Dehydrogenase Deficiency 44 73
Electron Transfer Flavoprotein Deficiency 12 25
Glutaric Acidemia Type Ii 53 25
Glutaric Aciduria Type 2 12 59
Glutaric Aciduria 2 53 73
Etfdh Deficiency 25 75
Etfa Deficiency 25 75
Etfb Deficiency 25 75
Mad Deficiency 12 59
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency 12
Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect 29
Electron Transfer Flavoprotein:ubiquinone Oxidoreductase 13
Multiple Fad Dehydrogenase Deficiency 25
Ethylmalonic-Adipicaciduria; Ema 57
Ethylmalonic Adipic Aciduria 76
Glutaric Acidemia Ii; Ga2 57
Glutaric Acidemia, Type 2 25
Glutaric Aciduria Iia 73
Glutaric Aciduria Iib 73
Glutaric Aciduria Iic 73
Glutaric Acidemia Ii 57
Glutaric Aciduria Ii 57
Glutaric Aciduria 2a 75
Glutaricaciduria Iia 75
Glutaric Aciduria 2b 75
Glutaricaciduria Iib 75
Glutaric Aciduria 2c 75
Glutaricaciduria Iic 75
Glutaricaciduria Ii 76
Glutaric Acidemia 2 53
Gaiia 75
Gaiib 75
Gaiic 75
Ga 2 53
Ga2a 75
Ga2b 75
Ga2c 75
Ga2 57
Mad 25

Characteristics:

Orphanet epidemiological data:

59
multiple acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
multiple acyl-coa dehydrogenase deficiency:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency

OMIM : 57 Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1; 231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). (231680)

MalaCards based summary : Multiple Acyl-Coa Dehydrogenase Deficiency, also known as madd, is related to lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency and transient neonatal multiple acyl-coa dehydrogenase deficiency. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency is ETFDH (Electron Transfer Flavoprotein Dehydrogenase), and among its related pathways/superpathways are Metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are macrocephaly and muscular hypotonia

UniProtKB/Swiss-Prot : 75 Glutaric aciduria 2A: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

NIH Rare Diseases : 53 Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.

Genetics Home Reference : 25 Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

Disease Ontology : 12 An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes

Wikipedia : 76 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Multiple Acyl-Coa Dehydrogenase Deficiency

Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 32.1 ETFA ETFB ETFDH FLAD1
2 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.4
3 sarcosinemia 11.2
4 sandhoff disease 10.9
5 myoclonic-astastic epilepsy 10.9
6 chanarin-dorfman syndrome 10.4 ETFB ETFDH
7 myopathy 10.4
8 carnitine palmitoyltransferase ii deficiency, infantile 10.1 CPT2 ETFDH
9 leukodystrophy 10.1
10 sensory peripheral neuropathy 10.1
11 neuropathy 10.1
12 necrotizing autoimmune myopathy 10.1
13 acute pancreatitis 10.0
14 hereditary spherocytosis 10.0
15 trophoblastic neoplasm 10.0
16 gestational trophoblastic tumor 10.0
17 l-2-hydroxyglutaric aciduria 10.0
18 choriocarcinoma 10.0
19 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0 ACADS CPT2
20 aging 9.9
21 carnitine deficiency, systemic primary 9.9 CPT2 ETFDH SLC22A5
22 dermatofibrosarcoma protuberans 9.9
23 hypogonadism 9.9
24 placental site trophoblastic tumor 9.9
25 ependymoma 9.9
26 brown-vialetto-van laere syndrome 9.8 FLAD1 SLC52A1
27 pyropoikilocytosis, hereditary 9.8
28 basal cell carcinoma 1 9.8
29 anaplastic large cell lymphoma 9.8
30 lymphoma 9.8
31 basal cell carcinoma 9.8
32 adenocarcinoma 9.8
33 histiocytoma 9.8
34 fibrous histiocytoma 9.8
35 alagille syndrome 1 9.6
36 renal cell carcinoma, nonpapillary 9.6
37 osteoporosis 9.6
38 ovarian cancer 9.6
39 celiac disease 1 9.6
40 chondrosarcoma 9.6
41 premature ovarian failure 1 9.6
42 leukemia, acute myeloid 9.6
43 bulimia nervosa 9.6
44 malaria 9.6
45 lung cancer susceptibility 3 9.6
46 alacrima, achalasia, and mental retardation syndrome 9.6
47 polyarteritis nodosa, childhood-onset 9.6
48 burns 9.6
49 diabetes mellitus 9.6
50 leukemia 9.6

Graphical network of the top 20 diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency:



Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Multiple Acyl-Coa Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

57
HEENT:
macrocephaly
telecanthus
high forehead
congenital cataract
flat nasal bridge
more
GI:
hepatomegaly
vomiting
nausea
fatty infiltration of liver
hepatic periportal necrosis

Respiratory:
respiratory distress
pulmonary hypoplasia

Lab:
glycosuria
generalized aminoaciduria
ethylmalonic aciduria
glutaric aciduria
glutaric acidemia
more
Misc:
sweaty feet odor
stale breath odor
neonatal death frequent

Neuro:
muscular hypotonia
muscle weakness
hypoglycemic coma

Metabolic:
hypoglycemia
neonatal acidosis

Skin:
jaundice

GU:
renal cortical cysts
polycystic kidneys
selective proximal tubular damage
genital defects


Clinical features from OMIM:

231680

Human phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 muscular hypotonia 32 HP:0001252
3 muscle weakness 32 HP:0001324
4 hepatomegaly 32 HP:0002240
5 depressed nasal bridge 32 HP:0005280
6 abnormal facial shape 32 HP:0001999
7 vomiting 32 HP:0002013
8 hypoglycemia 32 HP:0001943
9 respiratory distress 32 HP:0002098
10 hepatic steatosis 32 HP:0001397
11 jaundice 32 HP:0000952
12 abnormality of the pinna 32 HP:0000377
13 telecanthus 32 HP:0000506
14 polycystic kidney dysplasia 32 HP:0000113
15 high forehead 32 HP:0000348
16 wide anterior fontanel 32 HP:0000260
17 abnormality of the genital system 32 HP:0000078
18 pachygyria 32 HP:0001302
19 pulmonary hypoplasia 32 HP:0002089
20 proximal tubulopathy 32 HP:0000114
21 glycosuria 32 HP:0003076
22 gliosis 32 HP:0002171
23 nausea 32 HP:0002018
24 congenital cataract 32 HP:0000519
25 generalized aminoaciduria 32 HP:0002909
26 hypoglycemic coma 32 HP:0001325
27 renal cortical cysts 32 HP:0000803
28 ethylmalonic aciduria 32 HP:0003219
29 hepatic periportal necrosis 32 HP:0002614
30 glutaric aciduria 32 HP:0003150
31 glutaric acidemia 32 HP:0003530
32 defective dehydrogenation of isovaleryl coa and butyryl coa 32 HP:0003490
33 electron transfer flavoprotein-ubiquinone oxidoreductase defect 32 HP:0003647

GenomeRNAi Phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.28 ACADS COQ8A CPT2 ETFA ETFB ETFDH
2 Decreased POU5F1-GFP protein expression GR00184-A-1 9.26 CPT2 ETFDH SLC52A1 ACADS

Drugs & Therapeutics for Multiple Acyl-Coa Dehydrogenase Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Multiple Acyl-Coa Dehydrogenase Deficiency

Cochrane evidence based reviews: multiple acyl coenzyme a dehydrogenase deficiency

Genetic Tests for Multiple Acyl-Coa Dehydrogenase Deficiency

Genetic tests related to Multiple Acyl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Glutaric Aciduria, Type 2 29 ETFA ETFB ETFDH
2 Glutaric Acidemia Iic 29
3 Glutaric Acidemia Iia 29
4 Glutaric Acidemia Iib 29
5 Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect 29

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency

MalaCards organs/tissues related to Multiple Acyl-Coa Dehydrogenase Deficiency:

41
Kidney, Liver, Brain

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency

Articles related to Multiple Acyl-Coa Dehydrogenase Deficiency:

(show all 35)
# Title Authors Year
1
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. ( 29249369 )
2018
2
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. ( 29615056 )
2018
3
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 28914566 )
2018
4
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy. ( 29336361 )
2018
5
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI. ( 28388738 )
2017
6
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation. ( 28643959 )
2017
7
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency. ( 28685490 )
2017
8
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder. ( 28084266 )
2017
9
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. ( 27038534 )
2016
10
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency. ( 26830983 )
2016
11
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. ( 26821934 )
2016
12
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. ( 27000805 )
2016
13
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. ( 25913573 )
2015
14
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. ( 26205240 )
2015
15
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse. ( 26538673 )
2015
16
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. ( 24357026 )
2014
17
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. ( 25289702 )
2014
18
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]. ( 25119904 )
2014
19
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum). ( 23323930 )
2013
20
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. ( 23785301 )
2013
21
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States. ( 22708588 )
2012
22
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene. ( 23106979 )
2012
23
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 20138856 )
2010
24
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum). ( 20655779 )
2010
25
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 19783111 )
2010
26
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency. ( 20674745 )
2010
27
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis]. ( 19592060 )
2010
28
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). ( 20020044 )
2009
29
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 19249206 )
2009
30
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 19265687 )
2009
31
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. ( 16165386 )
2005
32
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. ( 10723193 )
2000
33
Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency--capacity of the choline oxidation pathway for methylation in vivo. ( 9630673 )
1998
34
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case. ( 7853027 )
1994
35
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. ( 1592075 )
1992

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Multiple Acyl-Coa Dehydrogenase Deficiency:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 ETFA p.Gly116Arg VAR_002366 rs119458971
2 ETFA p.Val157Gly VAR_002367 rs119458969
3 ETFA p.Thr266Met VAR_002368 rs119458970
4 ETFB p.Arg164Gln VAR_002369 rs104894677
5 ETFB p.Asp128Asn VAR_025804 rs104894678
6 ETFDH p.Ser82Phe VAR_075440 rs887871605
7 ETFDH p.Ser82Pro VAR_075441
8 ETFDH p.Ala84Thr VAR_075442 rs121964954
9 ETFDH p.His112Tyr VAR_075443
10 ETFDH p.Leu127His VAR_075444 rs121964956
11 ETFDH p.Arg175His VAR_075446 rs121964955
12 ETFDH p.Arg175Leu VAR_075447 rs121964955
13 ETFDH p.Pro456Leu VAR_075455 rs398124152
14 ETFDH p.Pro456Thr VAR_075456
15 ETFDH p.Pro562Leu VAR_075458 rs993314323
16 ETFDH p.Lys590Glu VAR_075459
17 ETFDH p.Gly611Glu VAR_075460 rs761669036

ClinVar genetic disease variations for Multiple Acyl-Coa Dehydrogenase Deficiency:

6
(show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 ETFA ETFA, IVS11DS, 1-BP DEL, +1G deletion Pathogenic
2 ETFA NM_000126.3(ETFA): c.470T> G (p.Val157Gly) single nucleotide variant Pathogenic rs119458969 GRCh37 Chromosome 15, 76578804: 76578804
3 ETFA NM_000126.3(ETFA): c.470T> G (p.Val157Gly) single nucleotide variant Pathogenic rs119458969 GRCh38 Chromosome 15, 76286463: 76286463
4 ETFA NM_000126.3(ETFA): c.797C> T (p.Thr266Met) single nucleotide variant Pathogenic/Likely pathogenic rs119458970 GRCh37 Chromosome 15, 76566772: 76566772
5 ETFA NM_000126.3(ETFA): c.797C> T (p.Thr266Met) single nucleotide variant Pathogenic/Likely pathogenic rs119458970 GRCh38 Chromosome 15, 76274431: 76274431
6 ETFA NM_000126.3(ETFA): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs119458971 GRCh37 Chromosome 15, 76584777: 76584777
7 ETFA NM_000126.3(ETFA): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs119458971 GRCh38 Chromosome 15, 76292436: 76292436
8 ETFA ETFA, 3-BP DEL, NT808 deletion Pathogenic
9 ETFDH NM_004453.3(ETFDH): c.380T> A (p.Leu127His) single nucleotide variant Pathogenic rs121964956 GRCh38 Chromosome 4, 158682399: 158682399
10 ETFDH NM_004453.3(ETFDH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964953 GRCh37 Chromosome 4, 159593610: 159593610
11 ETFDH NM_004453.3(ETFDH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964953 GRCh38 Chromosome 4, 158672458: 158672458
12 ETFDH ETFDH, 1-BP DEL, 36A deletion Pathogenic
13 ETFDH NM_004453.3(ETFDH): c.250G> A (p.Ala84Thr) single nucleotide variant Pathogenic rs121964954 GRCh37 Chromosome 4, 159603421: 159603421
14 ETFDH NM_004453.3(ETFDH): c.250G> A (p.Ala84Thr) single nucleotide variant Pathogenic rs121964954 GRCh38 Chromosome 4, 158682269: 158682269
15 ETFDH NM_004453.3(ETFDH): c.524G> T (p.Arg175Leu) single nucleotide variant Pathogenic rs121964955 GRCh37 Chromosome 4, 159606289: 159606289
16 ETFDH NM_004453.3(ETFDH): c.524G> T (p.Arg175Leu) single nucleotide variant Pathogenic rs121964955 GRCh38 Chromosome 4, 158685137: 158685137
17 ETFDH NM_004453.3(ETFDH): c.380T> A (p.Leu127His) single nucleotide variant Pathogenic rs121964956 GRCh37 Chromosome 4, 159603551: 159603551
18 ETFB NM_001985.2(ETFB): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs104894677 GRCh37 Chromosome 19, 51850260: 51850260
19 ETFB NM_001985.2(ETFB): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs104894677 GRCh38 Chromosome 19, 51347006: 51347006
20 ETFB ETFB, 1-EX DEL, IVSDS, +1, G-C deletion Pathogenic
21 ETFB NM_001985.2(ETFB): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs104894678 GRCh37 Chromosome 19, 51853639: 51853639
22 ETFB NM_001985.2(ETFB): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs104894678 GRCh38 Chromosome 19, 51350385: 51350385
23 ETFDH NM_004453.3(ETFDH): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs121964955 GRCh37 Chromosome 4, 159606289: 159606289
24 ETFDH NM_004453.3(ETFDH): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs121964955 GRCh38 Chromosome 4, 158685137: 158685137
25 ETFDH NM_004453.3(ETFDH): c.1130T> C (p.Leu377Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387907170 GRCh37 Chromosome 4, 159624588: 159624588
26 ETFDH NM_004453.3(ETFDH): c.1130T> C (p.Leu377Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387907170 GRCh38 Chromosome 4, 158703436: 158703436
27 ETFDH NM_004453.3(ETFDH): c.1448C> T (p.Pro483Leu) single nucleotide variant Pathogenic rs377656387 GRCh37 Chromosome 4, 159627503: 159627503
28 ETFDH NM_004453.3(ETFDH): c.1448C> T (p.Pro483Leu) single nucleotide variant Pathogenic rs377656387 GRCh38 Chromosome 4, 158706351: 158706351
29 ETFDH NM_004453.3(ETFDH): c.1234G> T (p.Glu412Ter) single nucleotide variant Pathogenic rs398124151 GRCh37 Chromosome 4, 159624692: 159624692
30 ETFDH NM_004453.3(ETFDH): c.1234G> T (p.Glu412Ter) single nucleotide variant Pathogenic rs398124151 GRCh38 Chromosome 4, 158703540: 158703540
31 ETFDH NM_004453.3(ETFDH): c.1367C> T (p.Pro456Leu) single nucleotide variant Pathogenic rs398124152 GRCh37 Chromosome 4, 159627422: 159627422
32 ETFDH NM_004453.3(ETFDH): c.1367C> T (p.Pro456Leu) single nucleotide variant Pathogenic rs398124152 GRCh38 Chromosome 4, 158706270: 158706270
33 ETFDH NM_004453.3(ETFDH): c.1823delG (p.Gly608Valfs) deletion Pathogenic rs398124153 GRCh37 Chromosome 4, 159629648: 159629648
34 ETFDH NM_004453.3(ETFDH): c.1823delG (p.Gly608Valfs) deletion Pathogenic rs398124153 GRCh38 Chromosome 4, 158708496: 158708496
35 ETFA NM_000126.3(ETFA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503918 GRCh37 Chromosome 15, 76603728: 76603728
36 ETFA NM_000126.3(ETFA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503918 GRCh38 Chromosome 15, 76311387: 76311387
37 ETFDH NM_004453.3(ETFDH): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance rs537038850 GRCh37 Chromosome 4, 159601663: 159601663
38 ETFDH NM_004453.3(ETFDH): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance rs537038850 GRCh38 Chromosome 4, 158680511: 158680511
39 ETFDH NM_004453.3(ETFDH): c.381C> T (p.Leu127=) single nucleotide variant Benign/Likely benign rs149278633 GRCh37 Chromosome 4, 159603552: 159603552
40 ETFDH NM_004453.3(ETFDH): c.381C> T (p.Leu127=) single nucleotide variant Benign/Likely benign rs149278633 GRCh38 Chromosome 4, 158682400: 158682400
41 ETFDH NM_004453.3(ETFDH): c.1570_1571delCT (p.Leu524Glufs) deletion Pathogenic rs727503919 GRCh37 Chromosome 4, 159627882: 159627883
42 ETFDH NM_004453.3(ETFDH): c.1570_1571delCT (p.Leu524Glufs) deletion Pathogenic rs727503919 GRCh38 Chromosome 4, 158706730: 158706731
43 ETFDH NM_004453.3(ETFDH): c.1531G> A (p.Asp511Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs780768015 GRCh37 Chromosome 4, 159627843: 159627843
44 ETFDH NM_004453.3(ETFDH): c.1531G> A (p.Asp511Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs780768015 GRCh38 Chromosome 4, 158706691: 158706691
45 ETFDH NM_004453.3(ETFDH): c.51dupT (p.Ala18Cysfs) duplication Pathogenic rs796051964 GRCh37 Chromosome 4, 159601635: 159601635
46 ETFDH NM_004453.3(ETFDH): c.51dupT (p.Ala18Cysfs) duplication Pathogenic rs796051964 GRCh38 Chromosome 4, 158680483: 158680483
47 ETFDH NM_004453.3(ETFDH): c.1001T> C (p.Leu334Pro) single nucleotide variant Pathogenic/Likely pathogenic rs377686388 GRCh37 Chromosome 4, 159620167: 159620167
48 ETFDH NM_004453.3(ETFDH): c.1001T> C (p.Leu334Pro) single nucleotide variant Pathogenic/Likely pathogenic rs377686388 GRCh38 Chromosome 4, 158699015: 158699015
49 ETFDH NM_004453.3(ETFDH): c.91A> G (p.Thr31Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs182144074 GRCh38 Chromosome 4, 158680523: 158680523
50 ETFDH NM_004453.3(ETFDH): c.91A> G (p.Thr31Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs182144074 GRCh37 Chromosome 4, 159601675: 159601675

Expression for Multiple Acyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for Multiple Acyl-Coa Dehydrogenase Deficiency.

Pathways for Multiple Acyl-Coa Dehydrogenase Deficiency

Pathways related to Multiple Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 ACAD9 ACADS COQ6 COQ9 CPT2 ETFA
2
Show member pathways
10.88 ACADS CPT2
3
Show member pathways
10.29 COQ6 COQ9 PDSS1 PDSS2

GO Terms for Multiple Acyl-Coa Dehydrogenase Deficiency

Cellular components related to Multiple Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.65 ACAD9 COQ6 COQ9 CPT2 ETFDH
2 mitochondrial matrix GO:0005759 9.5 ACADS ETFA ETFB ETFDH FLAD1 PDSS1
3 mitochondrion GO:0005739 9.4 ACAD9 ACADS COQ6 COQ8A COQ9 CPT2
4 transferase complex GO:1990234 9.16 PDSS1 PDSS2

Biological processes related to Multiple Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.7 ACAD9 ACADS COQ6 ETFA ETFB ETFDH
2 electron transport chain GO:0022900 9.54 ETFA ETFB ETFDH
3 fatty acid beta-oxidation GO:0006635 9.46 ACADS CPT2
4 protein heterotetramerization GO:0051290 9.43 PDSS1 PDSS2
5 respiratory electron transport chain GO:0022904 9.43 ETFA ETFB ETFDH
6 isoprenoid biosynthetic process GO:0008299 9.4 PDSS1 PDSS2
7 riboflavin metabolic process GO:0006771 9.32 FLAD1 SLC52A1
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADS ETFA ETFB ETFDH
9 ubiquinone biosynthetic process GO:0006744 9.02 COQ6 COQ8A COQ9 PDSS1 PDSS2

Molecular functions related to Multiple Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 ACAD9 ACADS COQ6 ETFA ETFDH
2 electron transfer activity GO:0009055 9.43 ETFA ETFB ETFDH
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACAD9 ACADS
4 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACAD9 ACADS
5 trans-octaprenyltranstransferase activity GO:0050347 9.16 PDSS1 PDSS2
6 flavin adenine dinucleotide binding GO:0050660 9.02 ACAD9 ACADS COQ6 ETFA ETFDH
7 trans-hexaprenyltranstransferase activity GO:0000010 8.96 PDSS1 PDSS2

Sources for Multiple Acyl-Coa Dehydrogenase Deficiency

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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