DisGeNET - a database of gene-disease associations

HADHA, hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, 3030

N. diseases: 154; N. variants: 58

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057516460

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

22459206

2012

dbSNP:

rs1057516460

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

10352164

1999

dbSNP:

rs1057516556

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517087

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517282

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1243779049

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

21549624

2011

dbSNP:

rs1298883200

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137852770

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

10234607

1999

dbSNP:

rs137852770

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

7846063

1995

dbSNP:

rs137852770

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.700

CausalMutation

CLINVAR

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

29268767

2017

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

9739053

1998

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

21549624

2011

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

14694500

2004

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

10352164

1999

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

14630990

2004

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

9739053

1998

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

21549624

2011

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.700

CausalMutation

CLINVAR

dbSNP:

rs137852775

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

23798014

2013

dbSNP:

rs1458898996

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Next generation sequence analysis for mitochondrial disorders.

19852779

2009

dbSNP:

rs147103714

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

21549624

2011

dbSNP:

rs147103714

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening.

20659813

2011

dbSNP:

rs1553314023

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553314024

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR