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MCID: 3HY005
MIFTS: 36

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Neuronal, Metabolic, Endocrine categories
1 symptom, 8 genes, 46 related diseases, clinical trials.

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).

MalaCards: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-coa dehydrogenase deficiency, is related to hyperinsulinemic hypoglycemia and hypoglycemia. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (hydroxyacyl-CoA dehydrogenase), and among its related pathways are Ketone body metabolism and Biosynthesis of unsaturated fatty acids. The compounds (S)-Hydroxyoctanoyl-CoA and (S)-Hydroxyhexanoyl-CoA have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:64 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Description from OMIM:47 231530,609975

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Endocrine
ICD10: 26


Characteristics (Orphanet epidemiological data):

49
3-hydroxyacyl-coa dehydrogenase deficiency:
hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-coa dehydrogenase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

3-hydroxyacyl-coa dehydrogenase deficiency 21 47 49
hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-coa dehydrogenase deficiency 49
hyperinsulinism due to short-chain 3-hydroxylacyl-coa dehydrogenase deficiency 49
hyperinsulinism due to 3-hydroxylacyl-coa dehydrogenase deficiency 49
l-3-alpha-hydroxyacyl-coa dehydrogenase, short chain, deficiency 21
3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency 21
hyperinsulinism due to glutamodehydrogenase deficiency 49
3-hydroxyacyl-coenzyme a dehydrogenase deficiency 21
deficiency of 3-hydroxyacyl-coa dehydrogenase 21
hyperinsulinism due to schad deficiency 49
hyperinsulinism due to hadh deficiency 49
m/schad deficiency 21
hadhsc deficiency 21
schad deficiency 21
hadh deficiency 21
had deficiency 21


External Ids:

ICD10 via Orphanet26 E71.3

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia30.8INS, GLUD1, HADH, GCK
2hypoglycemia30.8GCK, HADH, HADHA, GLUD1, INS, ACADVL
3hyperinsulinism30.7GCK, MTTP, GLUD1, INS
4lchad deficiency10.8
5hyperinsulinism due to glutamodehydrogenase deficiency10.6
6protein s deficiency10.5
7protein c deficiency10.5
8mitochondrial trifunctional protein deficiency10.5
9pigmentary retinopathy10.5
1017-beta-hydroxysteroid dehydrogenase x deficiency10.5
11trifunctional protein deficiency10.5
12hypoparathyroidism10.4
13alpha chain disease10.4
14mu chain disease10.4
15developmental disabilities10.4
163-alpha hydroxyacyl-coa dehydrogenase deficiency10.4
173-hydroxyacyl-coenzyme a dehydrogenase deficiency10.4
18fatty acid oxidation disorders10.4
19maple syrup urine disease10.0HADHA
20galactosemia10.0INS
21acute myocardial infarction10.0HADHA
22hypothyroidism10.0INS
23hellp syndrome10.0HADHA
24medium-chain acyl-coenzyme a dehydrogenase deficiency10.0ACADVL, HADHA
25sudden infant death syndrome10.0HADHA, ACADVL
26hyperinsulinism-hyperammonemia syndrome10.0GLUD1
27liver cirrhosis10.0GCK
28abetalipoproteinemia10.0HADHA, MTTP
29hepatitis10.0GLUD1
30sudden cardiac death multi-gene panels10.0ACADVL, HADHA
31rhyns syndrome10.0HADHA, MTTP
32permanent neonatal diabetes mellitus10.0INS, GCK
33neonatal diabetes mellitus10.0INS, GCK
34type 1 diabetes10.0GCK, INS
35myopathy10.0ACADVL, INS, HADHA
36gestational diabetes10.0INS, GCK
37retinal disease10.0INS, MTTP, HADHA
38hyperuricemia10.0INS, GCK
39hyperammonemia multi-gene panels10.0GCK, GLUD1
40insulin resistance10.0GCK, MTTP, INS
41type 2 diabetes mellitus10.0INS, MTTP, GCK
42familial hyperinsulinism10.0GLUD1, HADH, GCK
43glucose intolerance10.0INS, GCK
44insulinoma10.0INS, GLUD1, GCK
45fatty liver disease10.0HADHA, MTTP, GLUD1, INS, ACADVL
46metabolic syndrome x10.0GCK, HADHA, GLUD1, INS, ACADVL

Graphical network of the top 20 diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:



Diseases related to 3-hydroxyacyl-coa dehydrogenase deficiency

Clinical Features for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
47OMIM
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Clinical features from OMIM:

231530,609975

Clinical synopsis from OMIM:

231530

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search NIH Clinical Center for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search CenterWatch for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Animal Models for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency or affiliated genes

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Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
renal/urinary system phenotype
MP:00053678.6INS, HADHA, HADH, GCK
2
liver/biliary system phenotype
MP:00053707.7GCK, HADHA, MTTP, INS, ACADVL
3
growth/size phenotype
MP:00053786.8ACADVL, GCK, HADH, HADHA, MTTP, GLUD1
4
homeostasis/metabolism phenotype
MP:00053766.7GCK, HADH, HADHA, MTTP, GLUD1, INS

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Genetic Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

63
id Symbol AA change Variation SNP ID
1HADHp.Ala40ThrVAR_024079
2HADHp.Asp57GluVAR_024080

Expression for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB
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Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Ketone body metabolism54
Hide members
9.8HADH, HADHA
2
Biosynthesis of unsaturated fatty acids30
Hide members
9.8HADHA, HADH
3
Lysine degradation30
9.8HADHA, HADH
4
fatty acid activation38
Hide members
9.3HSD17B10, HADH, HADHA
5
Tryptophan metabolism38
Hide members
9.3HSD17B10, HADH, HADHA
6
Branched-chain amino acid catabolism54
Hide members
9.3HSD17B10, HADH, HADHA
7
Regulation of beta-cell development54
Hide members
9.3INS, GCK
8
Type II diabetes mellitus30
Hide members
9.3INS, GCK
9
Fatty Acid Beta Oxidation38
Hide members
9.3HADH, HADHA, ACADVL
10
Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)54
Hide members
9.3ACADVL, HADHA, HADH
11
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA54
Hide members
9.3ACADVL, HADHA, HADH
12
FOXA2 and FOXA3 transcription factor networks38
8.5ACADVL, INS, HADH, GCK
13
Metabolism54
Hide members
7.4HSD17B10, GCK, HADH, HADHA, MTTP, GLUD1

Compounds for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
24HMDB, 45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1(S)-Hydroxyoctanoyl-CoA2410.1HADH, HADHA
2(S)-Hydroxyhexanoyl-CoA2410.1HADH, HADHA
3(S)-Hydroxydecanoyl-CoA2410.1HADH, HADHA
4(S)-3-Hydroxytetradecanoyl-CoA2410.1HADH, HADHA
5(S)-3-Hydroxydodecanoyl-CoA2410.1HADH, HADHA
6(S)-3-hydroxypalmitoleoyl-CoA2410.1HSD17B10, HADH
7(S)-3-Hydroxyhexadecanoyl-CoA2410.1HADHA, HADH
8acetyl-l-carnitine459.9HADHA, ACADVL
9(3S)-3-Hydroxyadipyl-CoA249.8HSD17B10, HADH, HADHA
102-methyl-3-hydroxybutyryl-coa45 2410.8HSD17B10, HADH, HADHA
11chromium picolinate459.7GCK, INS
12nash459.7INS, MTTP
13ezetimibe45 1110.7INS, MTTP
14preproinsulin459.7GCK, INS
15niacin45 1110.7MTTP, INS
16i-app459.7INS, GCK
17incretin459.6GCK, INS
18aicar45 11 2411.5INS, GCK
19streptozotocin459.5INS, GCK
20palmitate459.5ACADVL, INS, HADHA
21fructose45 1110.4MTTP, GCK
22beta-hydroxybutyrate459.4GLUD1, INS
23alpha-ketoisocaproate459.4GCK, GLUD1
24Nicotinamide-Adenine-Dinucleotide119.3HSD17B10, HADH, GLUD1
25nad+459.2HSD17B10, HADH, GLUD1
26olanzapine50 45 29 11 2413.2GLUD1, INS
27glycerol 3-phosphate45 2410.2GCK, GLUD1
28isoleucine459.1GLUD1, HSD17B10
29malate459.0GLUD1, GCK
30sulfonylurea458.9INS, GLUD1, GCK
31nad29 249.9GLUD1, HADHA, HADH, HSD17B10
32tolbutamide45 50 29 1111.9INS, GLUD1, GCK
33pyruvate458.9GLUD1, HADHA, GCK
34glycerol45 11 2410.8GCK, GLUD1, INS
35phosphoenolpyruvate45 119.7GCK, GLUD1
36citrate458.7HSD17B10, GCK, HADHA, GLUD1
37glutamine458.7GLUD1, HADHA, GCK
38acetyl-coa45 249.6GCK, HADHA, GLUD1, ACADVL
39katp458.6INS, GLUD1, HADH, GCK
40diazoxide45 60 29 1111.6GCK, HADH, GLUD1, INS
41lactate458.5INS, GLUD1, HADHA, GCK
42nadh45 11 2410.3HSD17B10, GCK, HADH, HADHA, GLUD1
43creatinine458.1ACADVL, INS, GLUD1, HADHA, GCK
44alanine458.0GCK, HADHA, MTTP, GLUD1, INS
45acyl-coa458.0HSD17B10, HADH, HADHA, MTTP, GLUD1, ACADVL
46lipid458.0HSD17B10, GCK, HADHA, MTTP, INS, ACADVL
47carnitine457.9HADH, HADHA, MTTP, GLUD1, INS, ACADVL
48glutamate457.8HSD17B10, GCK, HADH, HADHA, GLUD1, INS
49glucose457.3GCK, HADH, HADHA, MTTP, GLUD1, INS
50fatty acid456.9ACADVL, HSD17B10, GCK, HADH, HADHA, MTTP

GO Terms for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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16Gene Ontology
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Cellular components related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.3ACADVL, HADHA
2mitochondrial inner membraneGO:0057439.2ACADVL, HADHA, HSD17B10
3mitochondrial matrixGO:0057598.3HSD17B10, HADH, GLUD1, ACADVL
4mitochondrionGO:0057397.4ACADVL, GLUD1, HADHA, HADH, GCK, HSD17B10

Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of gluconeogenesisGO:0457219.5INS, GCK
2fatty acid beta-oxidationGO:0066359.5ACADVL, HADHA, HADH
3positive regulation of glycolysisGO:0458219.4GCK, INS
4positive regulation of glycogen biosynthetic processGO:0457259.4INS, GCK
5glucose transportGO:0157589.3INS, GCK
6cellular lipid metabolic processGO:0442559.3ACADVL, HADHA, HADH
7endocrine pancreas developmentGO:0310189.0INS, GCK
8positive regulation of insulin secretionGO:0320248.9GCK, GLUD1
9small molecule metabolic processGO:0442816.6ACADVL, HSD17B10, GCK, HADH, HADHA, MTTP

Molecular functions related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:0038579.7HADHA, HADH
2ADP bindingGO:0435319.0GLUD1, GCK
3NAD+ bindingGO:0704039.0GLUD1, HADH

Products for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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