MCID: 3HY005
MIFTS: 45

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Neuronal diseases, Metabolic diseases, Endocrine diseases categories

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 schad 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:63 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Description from OMIM:46 231530,609975

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Sources:
21Genetics Home Reference, 48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
schad deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

3-hydroxyacyl-coa dehydrogenase deficiency 21 46 48
schad deficiency 21 48
hadh deficiency 21 48
hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 48
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 48
l-3-alpha-hydroxyacyl-coa dehydrogenase, short chain, deficiency 21
3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency 21
hyperinsulinism due to glutamodehydrogenase deficiency 48
3-hydroxyacyl-coenzyme a dehydrogenase deficiency 21
deficiency of 3-hydroxyacyl-coa dehydrogenase 21
hyperinsulinism due to schad deficiency 48
hyperinsulinism due to hadh deficiency 48
m/schad deficiency 21
hadhsc deficiency 21
had deficiency 21


External Ids:

SNOMED-CT via Orphanet57 124122005
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 45)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia30.7INS, GLUD1, HADH, GCK
2hypoglycemia30.7GCK, HADH, HADHA, GLUD1, INS, ACADVL
3hyperinsulinism30.7GCK, MTTP, GLUD1, INS
4liver cirrhosis30.5GCK
5lchad deficiency10.6
6hyperinsulinism due to glutamodehydrogenase deficiency10.6
7hypoparathyroidism10.4
8choroiditis10.3
9alpha chain disease10.3
10cataract10.3
11cholestasis10.3
12dilated cardiomyopathy10.3
13liver disease10.3
14retinitis10.3
15developmental disabilities10.3
163-alpha hydroxyacyl-coa dehydrogenase deficiency10.3
1717-beta-hydroxysteroid dehydrogenase x deficiency10.3
183-hydroxyacyl-coenzyme a dehydrogenase deficiency10.3
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
27abetalipoproteinemia10.0HADHA, MTTP
28hepatitis10.0GLUD1
29sudden cardiac death multi-gene panels10.0ACADVL, HADHA
30rhyns syndrome10.0HADHA, MTTP
31permanent neonatal diabetes mellitus10.0INS, GCK
32neonatal diabetes mellitus10.0INS, GCK
33type 1 diabetes10.0GCK, INS
34myopathy10.0ACADVL, INS, HADHA
35gestational diabetes10.0INS, GCK
36retinal disease10.0INS, MTTP, HADHA
37hyperuricemia10.0INS, GCK
38hyperammonemia multi-gene panels10.0GCK, GLUD1
39insulin resistance10.0GCK, MTTP, INS
40type 2 diabetes mellitus10.0INS, MTTP, GCK
41familial hyperinsulinism10.0GLUD1, HADH, GCK
42glucose intolerance10.0INS, GCK
43insulinoma10.0INS, GLUD1, GCK
44fatty liver disease10.0HADHA, MTTP, GLUD1, INS, ACADVL
45metabolic 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:
46OMIM
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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, 41NIH 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:
36MGI
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MGI Mouse Phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6INS, HADHA, HADH, GCK
2MP:00053707.7GCK, HADHA, MTTP, INS, ACADVL
3MP:00053786.8ACADVL, GCK, HADH, HADHA, MTTP, GLUD1
4MP: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:
62UniProtKB/Swiss-Prot
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Genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

62
id Symbol AA change Variation ID 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:
53Reactome, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB
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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
Hide members
9.8HADH, HADHA
2
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9.8HADHA, HADH
39.8HADHA, HADH
4
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9.3HSD17B10, HADH, HADHA
5
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9.3HSD17B10, HADH, HADHA
6
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9.3HSD17B10, HADH, HADHA
7
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9.3INS, GCK
8
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9.3INS, GCK
9
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9.3HADH, HADHA, ACADVL
10
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9.3ACADVL, HADHA, HADH
11
Hide members
9.3ACADVL, HADHA, HADH
128.5ACADVL, INS, HADH, GCK
13
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, 44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris 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-carnitine449.9HADHA, ACADVL
9(3S)-3-Hydroxyadipyl-CoA249.8HSD17B10, HADH, HADHA
102-methyl-3-hydroxybutyryl-coa44 2410.8HSD17B10, HADH, HADHA
11chromium picolinate449.7GCK, INS
12nash449.7INS, MTTP
13ezetimibe44 1110.7INS, MTTP
14preproinsulin449.7GCK, INS
15niacin44 1110.7MTTP, INS
16i-app449.7INS, GCK
17incretin449.6GCK, INS
18aicar44 11 2411.5INS, GCK
19streptozotocin449.5INS, GCK
20palmitate449.5ACADVL, INS, HADHA
21fructose44 1110.4MTTP, GCK
22beta-hydroxybutyrate449.4GLUD1, INS
23alpha-ketoisocaproate449.4GCK, GLUD1
24Nicotinamide-Adenine-Dinucleotide119.3HSD17B10, HADH, GLUD1
25nad+449.2HSD17B10, HADH, GLUD1
26olanzapine49 44 28 11 2413.2GLUD1, INS
27glycerol 3-phosphate44 2410.2GCK, GLUD1
28isoleucine449.1GLUD1, HSD17B10
29malate449.0GLUD1, GCK
30sulfonylurea448.9INS, GLUD1, GCK
31nad28 249.9GLUD1, HADHA, HADH, HSD17B10
32tolbutamide44 49 28 1111.9INS, GLUD1, GCK
33pyruvate448.9GLUD1, HADHA, GCK
34glycerol44 11 2410.8GCK, GLUD1, INS
35phosphoenolpyruvate44 119.7GCK, GLUD1
36citrate448.7HSD17B10, GCK, HADHA, GLUD1
37glutamine448.7GLUD1, HADHA, GCK
38acetyl-coa44 249.6GCK, HADHA, GLUD1, ACADVL
39katp448.6INS, GLUD1, HADH, GCK
40diazoxide44 59 28 1111.6GCK, HADH, GLUD1, INS
41lactate448.5INS, GLUD1, HADHA, GCK
42nadh44 11 2410.3HSD17B10, GCK, HADH, HADHA, GLUD1
43creatinine448.1ACADVL, INS, GLUD1, HADHA, GCK
44alanine448.0GCK, HADHA, MTTP, GLUD1, INS
45acyl-coa448.0HSD17B10, HADH, HADHA, MTTP, GLUD1, ACADVL
46lipid448.0HSD17B10, GCK, HADHA, MTTP, INS, ACADVL
47carnitine447.9HADH, HADHA, MTTP, GLUD1, INS, ACADVL
48glutamate447.8HSD17B10, GCK, HADH, HADHA, GLUD1, INS
49glucose447.3GCK, HADH, HADHA, MTTP, GLUD1, INS
50fatty acid446.9ACADVL, 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
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet