HADH, hydroxyacyl-CoA dehydrogenase, 3033

N. diseases: 72; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. 27181376 2016
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. 27181376 2016
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 23273570 2013
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. 22579592 2012
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. 23430856 2012
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Role of medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase in the regulation of body weight and thermogenesis. 21990309 2011
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. 15870679 2005
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 11489939 2001
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.700 GeneticVariation disease UNIPROT Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 11489939 2001
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.700 CausalMutation disease CLINVAR
CUI: C1864948
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.700 Biomarker disease CTD_human
CUI: C0028754
Disease: Obesity
Obesity 		0.510 Biomarker disease BEFREE Two MTPα activities, 3-hydroxyacyl-CoA dehydrogenase and long-chain hydratase, have been linked with the occurrence and development of obesity and obesity-related disorders. 28552586 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.510 Biomarker disease CTD_human Orchestrated downregulation of genes involved in oxidative metabolic pathways in obese vs. lean high-fat young male consumers. 20882379 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.510 Biomarker disease RGD Different forms of obesity as a function of diet composition. 16088331 2005
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.300 Biomarker group CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		0.300 Biomarker disease CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.200 GeneticVariation disease BEFREE Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. 27771675 2016
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.200 Biomarker disease BEFREE At a molecular level, genetic abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2 and HADH) have been identified which cause CHI. 25733449 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.200 GeneticVariation disease BEFREE We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression. 26316438 2015