MADD
MCID: MLT118
MIFTS: 67

Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)

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

Aliases & Classifications for Multiple Acyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Multiple Acyl-Coa Dehydrogenase Deficiency:

Name: Multiple Acyl-Coa Dehydrogenase Deficiency 56 12 52 25 58 73 73 73 15
Madd 56 12 52 25 58 73
Glutaric Acidemia Iia 56 29 13 6 71
Ethylmalonic-Adipicaciduria 56 52 25 73
Glutaric Acidemia Iib 56 29 6 71
Ema 56 52 25 73
Glutaric Aciduria, Type 2 25 29 6
Glutaric Acidemia Type 2 12 52 58
Glutaric Acidemia Iic 56 29 6
Ga Ii 56 25 54
Multiple Acyl Coenzyme a Dehydrogenase Deficiency 43 71
Electron Transfer Flavoprotein Deficiency 12 25
Glutaric Acidemia Type Ii 52 25
Glutaric Aciduria Type 2 12 58
Glutaric Aciduria 2 52 71
Etfdh Deficiency 25 73
Etfa Deficiency 25 73
Etfb Deficiency 25 73
Mad Deficiency 12 58
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency 12
Multiple Fad Dehydrogenase Deficiency 25
Ethylmalonic-Adipicaciduria; Ema 56
Ethylmalonic Adipic Aciduria 74
Glutaric Acidemia Ii; Ga2 56
Glutaric Acidemia, Type 2 25
Glutaric Aciduria Iia 71
Glutaric Aciduria Iib 71
Glutaric Aciduria Iic 71
Glutaric Acidemia Ii 56
Glutaric Aciduria Ii 56
Glutaric Aciduria 2a 73
Glutaricaciduria Iia 73
Glutaric Aciduria 2b 73
Glutaricaciduria Iib 73
Glutaric Aciduria 2c 73
Glutaricaciduria Iic 73
Glutaricaciduria Ii 74
Glutaric Acidemia 2 52
Gaiia 73
Gaiib 73
Gaiic 73
Ga 2 52
Ga2a 73
Ga2b 73
Ga2c 73
Ga2 56
Mad 25

Characteristics:

Orphanet epidemiological data:

58
multiple acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
multiple acyl-coa dehydrogenase deficiency:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency

OMIM : 56 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 multiple acyl-coa dehydrogenase deficiency, severe neonatal type and multiple acyl-coa dehydrogenase deficiency, mild type. 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Omeprazole and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related phenotypes are muscular hypotonia and hypoglycemia

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: 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.

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). Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses. In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet. Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 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.
Glutaric aciduria 2B: 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.
Glutaric aciduria 2C: 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.

Wikipedia : 74 Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino... 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 363)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.8 FLAD1 ETFDH ETFB ETFA
2 multiple acyl-coa dehydrogenase deficiency, mild type 34.8 FLAD1 ETFDH ETFB ETFA
3 muscular lipidosis 32.1 ETFDH CHKA ACADS
4 acyl-coa dehydrogenase deficiency 31.8 SLC22A5 HADHA ETFDH ETFB ETFA CHKA
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.6 CPT2 CHKA ACADVL
6 hypoglycemia 31.2 SLC25A20 SLC22A5 HADHA CPT2 ACADVL ACADM
7 riboflavin transporter deficiency neuronopathy 31.1 SLC52A3 SLC52A2
8 organic acidemia 30.9 PRODH ACADS ACADM
9 myoglobinuria 30.9 CPT2 AMPD1 ACADVL
10 reye syndrome 30.9 SLC22A5 HADHA ETFDH CPT2 ACADVL ACADM
11 brown-vialetto-van laere syndrome 30.8 SLC52A3 SLC52A2 SLC52A1 FLAD1 ETFDH
12 respiratory failure 30.8 SLC52A3 HADHA CPT2 ACADVL
13 atrial standstill 1 30.8 SLC25A20 SLC22A5 HADHA ACADVL
14 brown-vialetto-van laere syndrome 1 30.7 SLC52A3 SLC52A2
15 metabolic myopathy 30.6 SLC25A20 AMPD1
16 mitochondrial metabolism disease 30.5 SLC25A20 ETFDH CPT2 COQ8A ACADS ACAD9
17 riboflavin deficiency 30.5 SLC52A3 SLC52A1 FLAD1 ETFDH ETFA ACADS
18 malignant hyperthermia 30.1 CPT2 AMPD1 ACADS
19 placenta disease 30.1 PRODH HADHA ACADM
20 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.7
21 epilepsy with myoclonic absences 11.8
22 myopathy due to myoadenylate deaminase deficiency 11.7
23 sarcosinemia 11.6
24 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.4
25 diastolic heart failure 11.4
26 myoclonic-astastic epilepsy 11.3
27 sandhoff disease 11.3
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.2
29 dental anomalies and short stature 11.2
30 charcot-marie-tooth disease, type 4b3 11.2
31 myopathy 10.9
32 autosomal recessive disease 10.6
33 madras motor neuron disease 10.5 SLC52A3 SLC52A2 SLC52A1
34 metabolic acidosis 10.5
35 encephalopathy 10.5
36 myoglobinuria, recurrent 10.5 CPT2 ACADVL
37 gm2 gangliosidosis 10.5
38 gangliosidosis 10.5
39 cranial nerve palsy 10.5 SLC52A3 SLC52A2 SLC52A1
40 ariboflavinosis 10.5 SLC52A1 FLAD1
41 urea cycle disorder 10.5 PRODH ACADS ACADM
42 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.4 HADHA ACADVL ACADM
43 3-hydroxyacyl-coa dehydrogenase deficiency 10.4 HADHA ACADVL ACADM
44 leukodystrophy 10.4
45 polymyositis 10.4
46 multiple carboxylase deficiency 10.4 HADHA ACADS ACADM
47 glycogen storage disease v 10.4 CPT2 AMPD1 ACADVL
48 isovaleric acidemia 10.4 HADHA CPT2 ACADVL ACADS
49 carnitine-acylcarnitine translocase deficiency 10.4 SLC25A20 CPT2
50 carbonic anhydrase va deficiency, hyperammonemia due to 10.4

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

Human phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
3 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
4 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
5 exercise-induced muscle fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0009020
6 elevated serum creatine kinase 31 frequent (33%) HP:0003236
7 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
9 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
10 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
11 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
12 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
13 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
14 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
15 decreased liver function 58 31 occasional (7.5%) Occasional (29-5%) HP:0001410
16 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
17 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
18 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
19 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
20 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
21 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
22 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
23 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
24 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
25 increased lactate dehydrogenase activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0025435
26 wide anterior fontanel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000260
27 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
28 metabolic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001942
29 increased intramyocellular lipid droplets 58 31 occasional (7.5%) Occasional (29-5%) HP:0012240
30 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
31 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
32 hepatic periportal necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002614
33 decreased plasma carnitine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003234
34 fatigable weakness of neck muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030199
35 lacticaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003648
36 3-methylglutaric aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003344
37 elevated plasma acylcarnitine levels 58 31 occasional (7.5%) Occasional (29-5%) HP:0045045
38 glutaric aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003150
39 ethylmalonic aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003219
40 macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000256
41 arrhythmia 58 31 very rare (1%) Very rare (<4-1%) HP:0011675
42 restrictive ventilatory defect 58 31 very rare (1%) Very rare (<4-1%) HP:0002091
43 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
44 inability to walk 58 31 very rare (1%) Very rare (<4-1%) HP:0002540
45 scapular winging 58 31 very rare (1%) Very rare (<4-1%) HP:0003691
46 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
47 abnormality of the genital system 58 31 very rare (1%) Very rare (<4-1%) HP:0000078
48 encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001298
49 poor head control 58 31 very rare (1%) Very rare (<4-1%) HP:0002421
50 reye syndrome-like episodes 58 31 very rare (1%) Very rare (<4-1%) HP:0006582

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
macrocephaly
telecanthus
high forehead
flat nasal bridge
facial dysmorphism
more
G I:
hepatomegaly
vomiting
nausea
hepatic periportal necrosis
fatty infiltration of liver

Respiratory:
respiratory distress
pulmonary hypoplasia

Lab:
glycosuria
generalized aminoaciduria
glutaric aciduria
ethylmalonic 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

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

Clinical features from OMIM:

231680

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 Decreased viability GR00106-A-0 10.13 FLAD1
2 Decreased viability GR00221-A-1 10.13 COQ8A
3 Decreased viability GR00221-A-2 10.13 CHKA CPT2
4 Decreased viability GR00221-A-3 10.13 COQ8A
5 Decreased viability GR00221-A-4 10.13 CHKA CPT2
6 Decreased viability GR00342-S-2 10.13 CHKA
7 Decreased viability GR00381-A-1 10.13 COQ8A PRODH
8 Decreased viability GR00402-S-2 10.13 ACAD9 ACADM ACADS ACADVL AMPD1 CHKA
9 no effect GR00402-S-1 9.62 ACAD9 ACADM ACADS ACADVL AMPD1 CHKA
10 Decreased POU5F1-GFP protein expression GR00184-A-1 9.55 ACADS CPT2 ETFDH HADHA SLC52A1

MGI Mouse Phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ACADM ACADS ACADVL AMPD1 CHKA COQ8A
2 liver/biliary system MP:0005370 9.17 ACADM ACADS ACADVL CHKA HADHA SLC22A5

Drugs & Therapeutics for Multiple Acyl-Coa Dehydrogenase Deficiency

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
2
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
3 Gastrointestinal Agents Phase 2
4 Anti-Ulcer Agents Phase 2
5 Proton Pump Inhibitors Phase 2
6 Antacids Phase 2
7 Neurotransmitter Agents Phase 1, Phase 2
8 Anti-Asthmatic Agents Phase 1, Phase 2
9 Free Radical Scavengers Phase 1, Phase 2
10 Antioxidants Phase 1, Phase 2
11 Autonomic Agents Phase 1, Phase 2
12 Vasodilator Agents Phase 1, Phase 2
13 Respiratory System Agents Phase 1, Phase 2
14 Protective Agents Phase 1, Phase 2
15 Bronchodilator Agents Phase 1, Phase 2
16 Monoacetyldapsone Phase 2
17 Anti-Infective Agents Phase 2
18
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
19
Calcifediol Approved, Nutraceutical 19356-17-3 6433735 5283731
20 Pharmaceutical Solutions
21 Vitamins
22 Hydroxycholecalciferols
23 Calciferol
24 Micronutrients
25 Trace Elements
26 Nutrients
27 Anesthetics
28 Central Nervous System Depressants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimal Dose and Population Pharmacokinetics of Omeprazole in Neonates With Gastroesophageal Reflux Disease (GERD) Completed NCT01657578 Phase 2 Omeprazole
2 Prevention of Transfusion Related Acute Gut Injury (TRAGI) in Extremely Low Gestational Age Neonates (ELGAN) Neonates Using iNO Recruiting NCT02851472 Phase 1, Phase 2 Inhaled Nitric Oxide;Placebo
3 Examining an Intervention to Reduce Underage DUI and Riding With Impaired Drivers Active, not recruiting NCT03506880 Phase 2
4 Safety and Risk Assessment of Obese Parturient Underwent Cesarean Section(CS) Delivery Under General Anesthesia or Intraspinal Anesthesia Completed NCT03002636
5 Effect of Infraclavicular Nerve Block Versus General Anaesthesia for Acute Postoperative Pain After Distal Radial Fracture Surgery Completed NCT03048214
6 Combination of Video-assisted Thyroid Surgery and Hypnosis as a Complete Minimally Invasive Approach: a Comparative Pilot Study Completed NCT01752283
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
8 Decreased Femoral Bone Length by Fetal Ultrasound in Pregnant Women With Low Serum 25-hydroxyvitamin D: An Odense Child Cohort Study Active, not recruiting NCT02439229
9 Vitamin D and Angiogenic Markers in Odense Child Cohort 1: A Prospective Cohort Study on Their Role in Early Pregnancy Adverse Outcome Active, not recruiting NCT02434900
10 Anesthetic Method and Cerebral Outcomes: A Prospective Randomized Controlled Trial. Not yet recruiting NCT03696719

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 Iib 29
4 Glutaric Acidemia Iia 29

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency

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

40
Liver, Kidney, Brain, Heart, Lung, Bone, Breast

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency

Articles related to Multiple Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 435)
# Title Authors PMID Year
1
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 54 61 56 6
12815589 2003
2
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 61 56 6
20370797 2010
3
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 61 56 6
19249206 2009
4
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. 56 6
7912128 1994
5
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. 56 6
1430199 1992
6
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. 56 6
1882842 1991
7
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings. 56 6
7173259 1982
8
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. 56 6
7173260 1982
9
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. 61 56
11486898 2001
10
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. 61 56
8771170 1995
11
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. 61 56
1592075 1992
12
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II. 54 56
2000260 1991
13
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. 61 56
6862997 1983
14
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. 61 56
7360517 1980
15
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. 56
17977044 2008
16
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 56
17412732 2007
17
Coenzyme Q10 deficiency and isolated myopathy. 56
16434667 2006
18
Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3. 56
14671191 2003
19
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card. 56
10356148 1999
20
Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. 6
9350306 1997
21
Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease. 56
8739959 1996
22
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency. 56
1754299 1991
23
A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein. 56
2246866 1990
24
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. 56
2658591 1989
25
Glutaric acidemia type II. Comparison of pathologic features in two infants. 56
3178428 1988
26
Complementation analysis of fatty acid oxidation disorders. 56
3793932 1987
27
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. 56
3722376 1986
28
Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney. 56
3754423 1986
29
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. 56
6698061 1984
30
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 56
6630517 1983
31
Antenatal diagnosis of glutaricaciduria type II. 56
6133123 1983
32
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. 56
7145508 1982
33
Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder. 56
7199025 1981
34
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. 56
6158623 1980
35
Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. 56
514320 1979
36
Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. 56
500826 1979
37
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. 56
1245071 1976
38
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. 54 61
15662686 2005
39
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. 54 61
15669683 2004
40
Circular RNA circ_0074027 indicates a poor prognosis for NSCLC patients and modulates cell proliferation, apoptosis, and invasion via miR-185-3p mediated BRD4/MADD activation. 61
31680319 2020
41
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene. 61
31996215 2020
42
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites. 61
31760122 2020
43
Multiple acyl-COA dehydrogenase deficiency in elderly carriers. 61
31997039 2020
44
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. 61
31904027 2020
45
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. 61
32007756 2020
46
ISOGO: Functional annotation of protein-coding splice variants. 61
31974522 2020
47
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations. 61
31852447 2019
48
Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75]. 61
31818519 2019
49
Expression and significance of ETFDH in hepatocellular carcinoma. 61
31704152 2019
50
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi]. 61
31703127 2019

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ETFDH NM_004453.4(ETFDH):c.51dup (p.Ala18fs)duplication Pathogenic 195222 rs796051964 4:159601634-159601635 4:158680482-158680483
2 FLAD1 NM_025207.5(FLAD1):c.324del (p.Arg109fs)deletion Pathogenic 224733 rs876661314 1:154956491-154956491 1:154984015-154984015
3 FLAD1 NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs)short repeat Pathogenic 224732 rs876661313 1:154960605-154960608 1:154988129-154988132
4 FLAD1 NM_025207.5(FLAD1):c.498del (p.Ser167fs)deletion Pathogenic 224734 rs876661315 1:154960706-154960706 1:154988230-154988230
5 FLAD1 NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)indel Pathogenic 224731 rs876661312 1:154960734-154960745 1:154988258-154988269
6 FLAD1 NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)duplication Pathogenic 224728 rs876661310 1:154960775-154960776 1:154988299-154988300
7 FLAD1 NM_025207.5(FLAD1):c.836del (p.Phe279fs)deletion Pathogenic 224730 rs876661311 1:154961043-154961043 1:154988567-154988567
8 FLAD1 NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)deletion Pathogenic 224727 rs876661309 1:154962932-154962934 1:154990456-154990458
9 FLAD1 NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)SNV Pathogenic 224729 rs771466122 1:154965222-154965222 1:154992746-154992746
10 ETFA NM_000126.4(ETFA):c.470T>G (p.Val157Gly)SNV Pathogenic 2593 rs119458969 15:76578804-76578804 15:76286463-76286463
11 ETFA NM_000126.4(ETFA):c.797C>T (p.Thr266Met)SNV Pathogenic 2594 rs119458970 15:76566772-76566772 15:76274431-76274431
12 ETFA NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)SNV Pathogenic 2595 rs119458971 15:76584777-76584777 15:76292436-76292436
13 ETFA ETFA, 3-BP DEL, NT808deletion Pathogenic 2596
14 ETFA ETFA, IVS11DS, 1-BP DEL, +1Gdeletion Pathogenic 2597
15 ETFDH NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)SNV Pathogenic 12026 rs121964953 4:159593610-159593610 4:158672458-158672458
16 ETFDH ETFDH, 1-BP DEL, 36Adeletion Pathogenic 12027
17 ETFDH NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)SNV Pathogenic 12028 rs121964954 4:159603421-159603421 4:158682269-158682269
18 ETFDH NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)SNV Pathogenic 12029 rs121964955 4:159606289-159606289 4:158685137-158685137
19 ETFB NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)SNV Pathogenic 16716 rs104894677 19:51850260-51850260 19:51347006-51347006
20 ETFB ETFB, 1-EX DEL, IVSDS, +1, G-Cdeletion Pathogenic 16717
21 ETFB NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)SNV Pathogenic 16718 rs104894678 19:51853639-51853639 19:51350385-51350385
22 ETFDH NM_004453.4(ETFDH):c.524G>A (p.Arg175His)SNV Pathogenic 31576 rs121964955 4:159606289-159606289 4:158685137-158685137
23 ETFDH NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs)short repeat Pathogenic 203727 rs796051962 4:159603466-159603467 4:158682314-158682315
24 ETFDH NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)SNV Pathogenic 31602 rs377656387 4:159627503-159627503 4:158706351-158706351
25 ETFDH NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)SNV Pathogenic 95071 rs398124151 4:159624692-159624692 4:158703540-158703540
26 ETFDH NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)SNV Pathogenic 95072 rs398124152 4:159627422-159627422 4:158706270-158706270
27 ETFA NM_000126.4(ETFA):c.493_494GT[1] (p.Ser167fs)short repeat Pathogenic 459956 rs1298299792 15:76578778-76578779 15:76286437-76286438
28 ETFDH NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)SNV Pathogenic 577047 rs773668457 4:159601705-159601705 4:158680553-158680553
29 ETFDH NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)SNV Pathogenic 666174 4:159616734-159616734 4:158695582-158695582
30 ETFA NM_000126.4(ETFA):c.624del (p.Arg209fs)deletion Pathogenic 648977 15:76578018-76578018 15:76285677-76285677
31 ETFDH NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)SNV Pathogenic 651444 4:159627429-159627429 4:158706277-158706277
32 ETFA NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)SNV Pathogenic 666198 15:76588066-76588066 15:76295725-76295725
33 FLAD1 NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)SNV Pathogenic 801554 1:154960953-154960953 1:154988477-154988477
34 ETFDH NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)SNV Pathogenic 802100 4:159603466-159603466 4:158682314-158682314
35 ETFDH NM_004453.4(ETFDH):c.684+2T>GSNV Pathogenic 802101 4:159611579-159611579 4:158690427-158690427
36 ETFDH NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)deletion Pathogenic 802104 4:159627959-159627960 4:158706807-158706808
37 ETFDH NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)SNV Pathogenic/Likely pathogenic 431962 rs779896449 4:159605751-159605751 4:158684599-158684599
38 ETFDH NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)SNV Pathogenic/Likely pathogenic 418184 rs200920510 4:159627913-159627913 4:158706761-158706761
39 ETFDH NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)SNV Pathogenic/Likely pathogenic 31601 rs387907170 4:159624588-159624588 4:158703436-158703436
40 ETFDH NM_004453.4(ETFDH):c.380T>A (p.Leu127His)SNV Pathogenic/Likely pathogenic 12030 rs121964956 4:159603551-159603551 4:158682399-158682399
41 ETFDH NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)SNV Pathogenic/Likely pathogenic 199094 rs377686388 4:159620167-159620167 4:158699015-158699015
42 ETFDH NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)SNV Likely pathogenic 427131 rs549150456 4:159605801-159605801 4:158684649-158684649
43 ETFDH NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)SNV Likely pathogenic 374577 rs751821289 4:159627421-159627421 4:158706269-158706269
44 ETFDH NM_004453.4(ETFDH):c.1285+1G>ASNV Likely pathogenic 529449 rs767046886 4:159624744-159624744 4:158703592-158703592
45 ETFDH NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)SNV Likely pathogenic 656755 4:159603560-159603560 4:158682408-158682408
46 ETFDH NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)SNV Likely pathogenic 522495 rs1466787789 4:159624599-159624599 4:158703447-158703447
47 ETFDH NM_004453.4(ETFDH):c.1325C>T (p.Ser442Leu)SNV Likely pathogenic 522660 rs1442766122 4:159627380-159627380 4:158706228-158706228
48 ETFDH NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)SNV Likely pathogenic 591824 rs1561251388 4:159627443-159627443 4:158706291-158706291
49 ETFDH NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)SNV Likely pathogenic 645788 4:159624669-159624669 4:158703517-158703517
50 ETFA NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)SNV Likely pathogenic 800971 15:76603723-76603723 15:76311382-76311382

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

73 (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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 SLC52A3 SLC52A2 SLC52A1 SLC25A20 PRODH HADHA
2
Show member pathways
12.57 SLC25A20 HADHA CPT2 ACADVL ACADS ACADM
3
Show member pathways
12.4 SLC52A3 SLC52A2 SLC52A1 FLAD1
4
Show member pathways
12.11 HADHA CPT2 ACADVL ACADS ACADM
5
Show member pathways
11.7 HADHA ACADS ACADM
6
Show member pathways
11.28 HADHA ACADVL ACADS ACADM
7 10.89 CPT2 ACADM
8
Show member pathways
10.82 SLC25A20 HADHA CPT2 ACADVL ACADS ACADM
9 10.71 ETFBKMT ETFB
10 10.45 SLC25A20 CPT2
11
Show member pathways
10.37 HADHA ACADM

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 9.7 SLC25A20 PRODH HADHA ETFDH CPT2 ACADVL
2 mitochondrial matrix GO:0005759 9.61 PRODH FLAD1 ETFDH ETFBKMT ETFB ETFA
3 mitochondrial membrane GO:0031966 9.56 ETFDH ACADVL ACADM ACAD9
4 mitochondrion GO:0005739 9.47 SLC25A20 PRODH HADHA FLAD1 ETFDH ETFBKMT

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 HADHA CPT2 CHKA ACADVL ACADS ACADM
2 oxidation-reduction process GO:0055114 9.91 PRODH HADHA ETFDH ETFB ETFA ACADVL
3 fatty acid metabolic process GO:0006631 9.77 HADHA CPT2 ACADVL ACADS ACADM
4 electron transport chain GO:0022900 9.67 ETFDH ETFB ETFA
5 respiratory electron transport chain GO:0022904 9.58 ETFDH ETFB ETFA
6 fatty acid beta-oxidation GO:0006635 9.55 HADHA CPT2 ACADVL ACADS ACADM
7 riboflavin transport GO:0032218 9.5 SLC52A3 SLC52A2 SLC52A1
8 carnitine shuttle GO:0006853 9.48 SLC25A20 CPT2
9 medium-chain fatty acid metabolic process GO:0051791 9.46 ACADM ACAD9
10 riboflavin metabolic process GO:0006771 9.26 SLC52A3 SLC52A2 SLC52A1 FLAD1
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.1 ETFDH ETFB ETFA ACADVL ACADS ACADM

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 9.86 PRODH HADHA ETFDH ETFA ACADVL ACADS
2 electron transfer activity GO:0009055 9.65 ETFDH ETFB ETFA
3 fatty-acyl-CoA binding GO:0000062 9.54 HADHA ACADVL ACAD9
4 riboflavin transmembrane transporter activity GO:0032217 9.5 SLC52A3 SLC52A2 SLC52A1
5 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.46 ACADVL ACAD9
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADVL ACADS ACADM ACAD9
7 medium-chain-acyl-CoA dehydrogenase activity GO:0070991 9.43 ACADM ACAD9
8 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.4 ACADVL ACAD9
9 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADVL ACADS ACADM ACAD9
10 flavin adenine dinucleotide binding GO:0050660 9.1 ETFDH ETFA ACADVL ACADS ACADM ACAD9

Sources for Multiple Acyl-Coa Dehydrogenase Deficiency

3 CDC
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11 DGIdb
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68 SNOMED-CT via HPO
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70 Tocris
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