HIBCH, 3-hydroxyisobutyryl-CoA hydrolase, 26275

N. diseases: 60; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1296383102
rs1296383102
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561 2019
dbSNP: rs1296383102
rs1296383102
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561 2019
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014
dbSNP: rs2562796
rs2562796
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10(-13) in total 13 392 subjects). 24325914 2014
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832 2015
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317 2012
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209 2014
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452 2013
dbSNP: rs121918329
rs121918329
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 26026795 2015
dbSNP: rs143746450
rs143746450
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs143746450
rs143746450
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs1553499757
rs1553499757
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553501873
rs1553501873
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C4283745
Disease:
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 24299452 2013
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. 25591832 2015
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. 21104317 2012
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 26026795 2015
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907 2007
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. 25251209 2014
dbSNP: rs1553505302
rs1553505302
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321 2015
dbSNP: rs1553506164
rs1553506164
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
CUI: C0342738
Disease:
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		G 0.700 GeneticVariation CLINVAR