IBDD
MCID: ISB001
MIFTS: 36

Isobutyryl-Coa Dehydrogenase Deficiency (IBDD)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Isobutyryl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Isobutyryl-Coa Dehydrogenase Deficiency:

Name: Isobutyryl-Coa Dehydrogenase Deficiency 57 20 43 58 72 36 13 39 70
Ibd Deficiency 57 20 43 72
Deficiency of Isobutyryl-Coa Dehydrogenase 43 29 6
Acad8 Deficiency 57 20 72
Ibdd 57 72
Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency of 20
Acyl-Coa Dehydrogenase Family, Member 8, Deficiency of 57
Deficiency of Acyl-Coa Dehydrogenase Family Member 8 72
Isobutyryl-Coenzyme a Dehydrogenase Deficiency 43
Isobutyric Aciduria 58

Characteristics:

Orphanet epidemiological data:

58
isobutyryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
favorable response to carnitine therapy
some patients identified by newborn screening may be asymptomatic in childhood


HPO:

31
isobutyryl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 611283
KEGG 36 H01279
MeSH 44 D008661
MESH via Orphanet 45 C535541
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C1969809
Orphanet 58 ORPHA79159
MedGen 41 C1969809
UMLS 70 C1969809

Summaries for Isobutyryl-Coa Dehydrogenase Deficiency

MedlinePlus Genetics : 43 Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.

MalaCards based summary : Isobutyryl-Coa Dehydrogenase Deficiency, also known as ibd deficiency, is related to acyl-coa dehydrogenase, short-chain, deficiency of and dilated cardiomyopathy. An important gene associated with Isobutyryl-Coa Dehydrogenase Deficiency is ACAD8 (Acyl-CoA Dehydrogenase Family Member 8), and among its related pathways/superpathways is Valine, leucine and isoleucine degradation. Related phenotypes are decreased plasma carnitine and dicarboxylic aciduria

GARD : 20 Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid ) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner. Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.

KEGG : 36 Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency.

UniProtKB/Swiss-Prot : 72 Isobutyryl-CoA dehydrogenase deficiency: An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic.

Wikipedia : 73 Isobutyryl-coenzyme A dehydrogenase deficiency, is a rare metabolic disorder in which the body is unable... more...

More information from OMIM: 611283

Related Diseases for Isobutyryl-Coa Dehydrogenase Deficiency

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, short-chain, deficiency of 29.8 ETFDH ACAD8
2 dilated cardiomyopathy 10.4
3 hypoglycemia 10.4
4 acyl-coa dehydrogenase deficiency 10.4
5 autism 10.2
6 3-hydroxyisobutyric aciduria 10.2
7 anxiety 10.2
8 autism spectrum disorder 10.2
9 gastroenteritis 10.2
10 encephalopathy 10.2
11 hypotonia 10.2
12 cystathioninuria 10.1
13 neuroblastoma 10.1
14 glutaric acidemia i 9.6 ETFDH ACAD8
15 multiple acyl-coa dehydrogenase deficiency 9.5 ETFDH ACAD8

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



Diseases related to Isobutyryl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Isobutyryl-Coa Dehydrogenase Deficiency

Human phenotypes related to Isobutyryl-Coa Dehydrogenase Deficiency:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased plasma carnitine 58 31 frequent (33%) Frequent (79-30%) HP:0003234
2 dicarboxylic aciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003215
3 elevated circulating acylcarnitine concentration 31 frequent (33%) HP:0045045
4 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
5 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
6 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
7 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
8 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
9 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
10 ketotic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012734
11 hypotonia 31 occasional (7.5%) HP:0001252
12 muscular hypotonia 58 Occasional (29-5%)
13 anemia 31 HP:0001903
14 elevated plasma acylcarnitine levels 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Hematology:
anemia (in some patients)

Muscle Soft Tissue:
muscular hypotonia (in some patients)

Neurologic Central Nervous System:
seizures (in some patients)
developmental delay (in some patients)

Cardiovascular Heart:
cardiomegaly (in some patients)
dilated cardiomyopathy (in some patients)

Metabolic Features:
plasma carnitine deficiency
elevated c4-acylcarnitine

Clinical features from OMIM®:

611283 (Updated 20-May-2021)

Drugs & Therapeutics for Isobutyryl-Coa Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Isobutyryl-Coa Dehydrogenase Deficiency

Genetic Tests for Isobutyryl-Coa Dehydrogenase Deficiency

Genetic tests related to Isobutyryl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Isobutyryl-Coa Dehydrogenase 29 ACAD8

Anatomical Context for Isobutyryl-Coa Dehydrogenase Deficiency

Publications for Isobutyryl-Coa Dehydrogenase Deficiency

Articles related to Isobutyryl-Coa Dehydrogenase Deficiency:

(show all 25)
# Title Authors PMID Year
1
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. 57 6 61
17304052 2007
2
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 61 57 6
16857760 2006
3
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. 61 57 6
9889013 1998
4
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 57 6
12359132 2002
5
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 6 61
25689098 2015
6
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 61 57
15505379 2004
7
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 57 61
12736383 2003
8
Disease variants in genomes of 44 centenarians. 6
25333069 2014
9
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report. 61
33432785 2021
10
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia. 61
31813752 2020
11
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. 61
30904546 2019
12
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. 61
30612563 2019
13
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
14
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency. 61
30253142 2018
15
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia. 61
28053874 2017
16
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). 61
27727436 2016
17
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles". 61
26458767 2015
18
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. 61
24635911 2015
19
Genotype-based databases for variants causing rare diseases. 61
25111118 2014
20
Vitamin D: new roles and therapeutic potential in inflammatory bowel disease. 61
22493989 2012
21
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. 61
22241096 2012
22
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. 61
21290185 2012
23
Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice. 61
21659959 2011
24
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria. 61
20836999 2010
25
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. 61
17924841 2007

Variations for Isobutyryl-Coa Dehydrogenase Deficiency

ClinVar genetic disease variations for Isobutyryl-Coa Dehydrogenase Deficiency:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAD8 NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter) SNV Pathogenic 848313 GRCh37: 11:134127119-134127119
GRCh38: 11:134257225-134257225
2 ACAD8 NM_014384.2(ACAD8):c.867C>A (p.His289Gln) SNV Pathogenic 5358 rs121908421 GRCh37: 11:134131194-134131194
GRCh38: 11:134261300-134261300
3 ACAD8 NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter) SNV Pathogenic 645496 rs1591505809 GRCh37: 11:134126465-134126465
GRCh38: 11:134256571-134256571
4 ACAD8 NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) SNV Pathogenic 5359 rs121908422 GRCh37: 11:134131232-134131232
GRCh38: 11:134261338-134261338
5 ACAD8 NM_014384.3(ACAD8):c.842-2A>T SNV Pathogenic 1033693 GRCh37: 11:134131167-134131167
GRCh38: 11:134261273-134261273
6 ACAD8 NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) SNV Conflicting interpretations of pathogenicity 372297 rs200620279 GRCh37: 11:134131650-134131650
GRCh38: 11:134261756-134261756
7 ACAD8 NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) SNV Conflicting interpretations of pathogenicity 5356 rs121908419 GRCh37: 11:134132450-134132450
GRCh38: 11:134262556-134262556
8 ACAD8 NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) SNV Conflicting interpretations of pathogenicity 632056 rs746960051 GRCh37: 11:134130962-134130962
GRCh38: 11:134261068-134261068
9 ACAD8 NM_014384.2(ACAD8):c.110-9T>C SNV Conflicting interpretations of pathogenicity 303671 rs371550147 GRCh37: 11:134126433-134126433
GRCh38: 11:134256539-134256539
10 ACAD8 NM_014384.2(ACAD8):c.*874C>G SNV Uncertain significance 303699 rs756666725 GRCh37: 11:134135728-134135728
GRCh38: 11:134265834-134265834
11 ACAD8 NM_014384.2(ACAD8):c.*441C>G SNV Uncertain significance 303693 rs886048028 GRCh37: 11:134135295-134135295
GRCh38: 11:134265401-134265401
12 ACAD8 NM_014384.2(ACAD8):c.525C>T (p.Ser175=) SNV Uncertain significance 303677 rs142343253 GRCh37: 11:134128936-134128936
GRCh38: 11:134259042-134259042
13 ACAD8 NM_014384.2(ACAD8):c.*238G>C SNV Uncertain significance 303688 rs886048026 GRCh37: 11:134135092-134135092
GRCh38: 11:134265198-134265198
14 ACAD8 NM_014384.2(ACAD8):c.*351C>G SNV Uncertain significance 303691 rs561907589 GRCh37: 11:134135205-134135205
GRCh38: 11:134265311-134265311
15 ACAD8 NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys) SNV Uncertain significance 877359 GRCh37: 11:134127139-134127139
GRCh38: 11:134257245-134257245
16 ACAD8 NM_014384.3(ACAD8):c.380+7G>A SNV Uncertain significance 877360 GRCh37: 11:134127158-134127158
GRCh38: 11:134257264-134257264
17 ACAD8 NM_014384.3(ACAD8):c.*266T>A SNV Uncertain significance 877417 GRCh37: 11:134135120-134135120
GRCh38: 11:134265226-134265226
18 ACAD8 NM_014384.3(ACAD8):c.453C>T (p.Thr151=) SNV Uncertain significance 878385 GRCh37: 11:134128481-134128481
GRCh38: 11:134258587-134258587
19 ACAD8 NM_014384.3(ACAD8):c.491-6C>T SNV Uncertain significance 878386 GRCh37: 11:134128896-134128896
GRCh38: 11:134259002-134259002
20 ACAD8 NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr) SNV Uncertain significance 878387 GRCh37: 11:134128905-134128905
GRCh38: 11:134259011-134259011
21 ACAD8 NM_014384.3(ACAD8):c.*622C>T SNV Uncertain significance 878439 GRCh37: 11:134135476-134135476
GRCh38: 11:134265582-134265582
22 ACAD8 NM_014384.3(ACAD8):c.*634T>C SNV Uncertain significance 878440 GRCh37: 11:134135488-134135488
GRCh38: 11:134265594-134265594
23 ACAD8 NM_014384.2(ACAD8):c.558T>C (p.Asn186=) SNV Uncertain significance 303678 rs886048025 GRCh37: 11:134128969-134128969
GRCh38: 11:134259075-134259075
24 ACAD8 NM_014384.2(ACAD8):c.432A>G (p.Lys144=) SNV Uncertain significance 303676 rs886048024 GRCh37: 11:134128460-134128460
GRCh38: 11:134258566-134258566
25 ACAD8 NM_014384.2(ACAD8):c.841+15G>A SNV Uncertain significance 303682 rs770612690 GRCh37: 11:134131088-134131088
GRCh38: 11:134261194-134261194
26 ACAD8 NM_014384.2(ACAD8):c.*705T>G SNV Uncertain significance 303698 rs534413850 GRCh37: 11:134135559-134135559
GRCh38: 11:134265665-134265665
27 ACAD8 NM_014384.2(ACAD8):c.567+12C>T SNV Uncertain significance 303679 rs375812492 GRCh37: 11:134128990-134128990
GRCh38: 11:134259096-134259096
28 ACAD8 NM_014384.2(ACAD8):c.*306C>T SNV Uncertain significance 303690 rs886048027 GRCh37: 11:134135160-134135160
GRCh38: 11:134265266-134265266
29 ACAD8 NM_014384.2(ACAD8):c.*696A>G SNV Uncertain significance 303697 rs886048029 GRCh37: 11:134135550-134135550
GRCh38: 11:134265656-134265656
30 ACAD8 NM_014384.2(ACAD8):c.841+9C>T SNV Uncertain significance 303681 rs777635296 GRCh37: 11:134131082-134131082
GRCh38: 11:134261188-134261188
31 ACAD8 NM_014384.2(ACAD8):c.381-4T>A SNV Uncertain significance 303675 rs886048023 GRCh37: 11:134128405-134128405
GRCh38: 11:134258511-134258511
32 ACAD8 NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) SNV Uncertain significance 303684 rs146813391 GRCh37: 11:134131784-134131784
GRCh38: 11:134261890-134261890
33 ACAD8 NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) SNV Uncertain significance 303686 rs146145710 GRCh37: 11:134134839-134134839
GRCh38: 11:134264945-134264945
34 ACAD8 NM_014384.2(ACAD8):c.99C>T (p.Ser33=) SNV Uncertain significance 303670 rs886048021 GRCh37: 11:134123593-134123593
GRCh38: 11:134253699-134253699
35 ACAD8 NM_014384.2(ACAD8):c.*608G>A SNV Uncertain significance 303695 rs143912522 GRCh37: 11:134135462-134135462
GRCh38: 11:134265568-134265568
36 ACAD8 NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) SNV Uncertain significance 468862 rs948304437 GRCh37: 11:134127064-134127064
GRCh38: 11:134257170-134257170
37 ACAD8 NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) SNV Uncertain significance 536740 rs1330918776 GRCh37: 11:134127021-134127021
GRCh38: 11:134257127-134257127
38 ACAD8 NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) SNV Uncertain significance 536741 rs768954546 GRCh37: 11:134131696-134131696
GRCh38: 11:134261802-134261802
39 ACAD8 NM_014384.2(ACAD8):c.643A>G (p.Ile215Val) SNV Uncertain significance 647866 rs151125742 GRCh37: 11:134129577-134129577
GRCh38: 11:134259683-134259683
40 ACAD8 NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys) SNV Uncertain significance 658754 rs778823613 GRCh37: 11:134131692-134131692
GRCh38: 11:134261798-134261798
41 ACAD8 NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro) SNV Uncertain significance 658755 rs773978651 GRCh37: 11:134127063-134127063
GRCh38: 11:134257169-134257169
42 ACAD8 NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr) SNV Uncertain significance 878975 GRCh37: 11:134131065-134131065
GRCh38: 11:134261171-134261171
43 ACAD8 NM_014384.3(ACAD8):c.842-15G>A SNV Uncertain significance 878976 GRCh37: 11:134131154-134131154
GRCh38: 11:134261260-134261260
44 ACAD8 NM_014384.3(ACAD8):c.110-13A>G SNV Uncertain significance 880149 GRCh37: 11:134126429-134126429
GRCh38: 11:134256535-134256535
45 ACAD8 NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr) SNV Uncertain significance 880203 GRCh37: 11:134131677-134131677
GRCh38: 11:134261783-134261783
46 ACAD8 NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 880204 GRCh37: 11:134132468-134132468
GRCh38: 11:134262574-134262574
47 ACAD8 NM_014384.3(ACAD8):c.*69G>T SNV Uncertain significance 880205 GRCh37: 11:134134923-134134923
GRCh38: 11:134265029-134265029
48 ACAD8 NM_014384.3(ACAD8):c.*82G>C SNV Uncertain significance 880206 GRCh37: 11:134134936-134134936
GRCh38: 11:134265042-134265042
49 ACAD8 NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro) SNV Uncertain significance 640851 rs121908422 GRCh37: 11:134131232-134131232
GRCh38: 11:134261338-134261338
50 ACAD8 NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) SNV Uncertain significance 468863 rs371449613 GRCh37: 11:134128437-134128437
GRCh38: 11:134258543-134258543

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

72
# Symbol AA change Variation ID SNP ID
1 ACAD8 p.Met128Ile VAR_035071 rs374317179
2 ACAD8 p.Asp134Tyr VAR_035072 rs367857040
3 ACAD8 p.Gly137Arg VAR_035073 rs371449613
4 ACAD8 p.Met152Thr VAR_035074 rs121908418
5 ACAD8 p.Val203Ile VAR_035075 rs759877257
6 ACAD8 p.Arg302Gln VAR_035076 rs121908422
7 ACAD8 p.Ala320Thr VAR_035077 rs200620279
8 ACAD8 p.Arg334Cys VAR_035078 rs778823613
9 ACAD8 p.Gln385Arg VAR_035079 rs367996531

Expression for Isobutyryl-Coa Dehydrogenase Deficiency

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

Pathways for Isobutyryl-Coa Dehydrogenase Deficiency

Pathways related to Isobutyryl-Coa Dehydrogenase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

GO Terms for Isobutyryl-Coa Dehydrogenase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ETFDH ACAD8

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 ETFDH ACAD8

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 ETFDH ACAD8
2 flavin adenine dinucleotide binding GO:0050660 8.62 ETFDH ACAD8

Sources for Isobutyryl-Coa 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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