1. Gene
  2. HADHA - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Gene

HADHA - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Gene

Homo sapiens

Also known as GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA

Gene ID: 3030 | Gene type: protein coding

About HADHA

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,190,635-26,244,632 (from NCBI)

This gene has 11 transcripts (splice variants), 249 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in duodenum (RPKM 119.6), small intestine (RPKM 107.2) and 25 other tissues.

Summary

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]

HADHA Products(1)

mRNA Protein Name
NM_000182.5 NP_000173.2 trifunctional enzyme subunit alpha, mitochondrial precursor

HADHA Protein Structure

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (42 - 309)

3HCDH_N

3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (364 - 541)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (544 - 639)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (676 - 754)

  • 0
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  • 763 a.a.
Protein Preferred Names Protein Names

trifunctional enzyme subunit alpha, mitochondrial

3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit

Related Diseases

Diseases Alias
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

LCHAD DEFICIENCY

Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

AFLP

Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Fatty Liver, Acute, Of Pregnancy

Acute Fatty Liver Of Pregnancy

Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency

Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency

Trifunctional Protein Deficiency, Type 1

Hellp Syndrome, Maternal, Of Pregnancy

Acute Fatty Liver, Gestational

3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency

3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency

Lchadd

Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency

Maternal Acute Fatty Liver Of Pregnancy

Trifunctional Protein Deficiency Type 1

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency

MTPD

Trifunctional Protein Deficiency

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Tfpd

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Familial Hypertrophic

Familial Hcm

Heritable Hypertrophic Cardiomyopathy

Mtp Deficiency

Tpa Deficiency

Trifunctional Protein Deficiency, Type 2

Abetalipoproteinemia

Hellp Syndrome

Hemolysis, Elevated Liver Enzymes, Lowered Platelets

Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy

Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome

Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]

Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome

Ruvalcaba Syndrome
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

Mcad Deficiency

Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Acadm Deficiency

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

Medium Chain Acyl-Coa Dehydrogenase Deficiency

ACADMD

Mcadh Deficiency

Mcadd

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase Medium-Chain Deficiency

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Medium Chain Acyl Dehydrogenase Deficiency

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Abetalipoproteinemia

Acanthocytosis

ABL

Bassen-Kornzweig Syndrome

Mtp Deficiency

Familial Hypobetalipoproteinemia

Abetalipoproteinaemia

Microsomal Triglyceride Transfer Protein Deficiency

Microsomal Triglyceride Transfer Protein Deficiency Disease

Abetalipoproteinemia Neuropathy

Apolipoprotein B Deficiency

Bassen-Kornzweig Disease

Betalipoprotein Deficiency Disease

Congenital Betalipoprotein Deficiency Syndrome

Homozygous Familial Hypobetalipoproteinemia

Fhbl

Bassen Kornzweig Syndrome

Hypobetalipoproteinemia, Familial

Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Familial, Apolipoprotein B

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Placenta Disease

Placenta Diseases

Placenta Disorder

Pregnancy Complications

Placenta Disorders

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Myopathy

Muscular Diseases

Myopathies

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency

Erythroleukemia
Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency

Cpt1a Deficiency

Cpt I Deficiency

Carnitine Palmitoyl Transferase Ia Deficiency

Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

Hepatic Carnitine Palmitoyl Transferase I Deficiency

L-Cpt1 Deficiency

Carnitine Palmitoyltransferase 1a Deficiency

Carnitine Palmitoyltransferase Ia Deficiency

Cpt Deficiency, Hepatic, Type I

Cpt Deficiency, Hepatic, Type Ia

Hepatic Carnitine Palmitoyltransferase 1 Deficiency

L-Cpti Deficiency

Hepatic Cpt Deficiency Type I

Hepatic Cpt1

L-Cpt 1 Deficiency

Cpt 1a Deficiency

Liver Form Of Carnitine Palmitoyltransferase Deficiency

CPT1AD

Cpt-I Deficiency

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt Ii Deficiency, Infantile

Cpt Ii Deficiency

Carnitine Palmitoyltransferase 2 Deficiency

Cpt2

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt-Ii

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase Ii Deficiency

Cpt2 Deficiency

Cptii

Cpt2, Hepatocardiomuscular Form

Cpt2, Severe Infantile Form

Cptii, Hepatocardiomuscular Form

Cptii, Severe Infantile Form

Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

Carnitine Palmitoyltransferase 2 Deficiency, Infantile

CPT2DI

Cpt Deficiency, Hepatic, Type Ii

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Atrial Standstill 1

ATRST1

Atrial Cardiomyopathy With Heart Block

Cardiomyopathy, Familial, With Conduction Disturbance

Atrial Standstill, Digenic

Familial Cardiomyopathy With Conduction Disturbance

Standstill, Atrial, Type 1

Heart Block

Cardiomyopathies

Idiopathic Cardiomyopathy

Idiopathic Cardiopathy

Primary Myocardial Disease

Primary Cardiomyopathy

Myocardiopathy

Myocardosis

Primary Idiopathic Myocardial Disease

Carnitine Deficiency, Systemic Primary

Carnitine Uptake Defect

Renal Carnitine Transport Defect

Systemic Primary Carnitine Deficiency

CDSP

Systemic Carnitine Deficiency

Carnitine Transporter Deficiency

Cud

Primary Carnitine Deficiency

Carnitine Uptake Deficiency

Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine

Carnitine Deficiency, Primary

Systemic Primary Carnitine Deficiency Disease

Deficiency Of Plasma-Membrane Carnitine Transporter

Scd

Carnitine Transporter, Plasma-Membrane, Deficiency Of

Carnitine Transport Defect

Carnitine Plasma-Membrane Transporter Deficiency

Carnitine Transporter Defect

Spcd

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency

Isovaleryl-Coa Dehydrogenase Deficiency

IVA

Ivd Deficiency

Acidemia, Isovaleric

Isovaleric Aciduria

Isovaleryl Coa Carboxylase Deficiency

Isovaleric Acid-Coa Dehydrogenase Deficiency

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic

Cardiomyopathy, Dilated, 1gg

Dilated Cardiomyopathy 1gg

CMD1GG

Cardiomyopathy, Dilated 1gg

Cardiomyopathy, Dilated, Type 1gg

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Prothrombin Thrombophilia

Prothrombin G20210a Thrombophilia

Hyperprothrombinemia

Citrullinemia, Classic

Citrullinemia

Classic Citrullinemia

Argininosuccinate Synthetase Deficiency

Ass Deficiency

Citrullinemia Type I

CTLN1

Citrullinuria

Citrullinemia, Type I

Argininosuccinic Acid Synthetase Deficiency

Ctnl1

Citrullinemia 1

Deficiency Of Citrulline-Aspartate Ligase

Cit

Argininosuccinate Synthase Deficiency

Argininosuccinic Acid Synthase Deficiency

Citrullinemia Type 1

Citrullinemia Classical

Multiple Carboxylase Deficiency

Mcd

Holocarboxylase Synthetase Deficiency

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency

BTD DEFICIENCY

Multiple Carboxylase Deficiency, Late-Onset

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Biotin Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Deficiency Of Biotinidase

Biot

Carboxylase Deficiency, Multiple, Late-Onset

Late-Onset Mcd

Mcd Juvenile Form

Biotin Deficiency Disease

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Reye Syndrome

Reye'S Syndrome

Rasmussen Encephalitis

Fatty Liver With Encephalopathy

Rasmussen'S Encephalitis

Re

Rs

Rasmussen Syndrome

Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome

Reye Encephalopathy

Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X

Metabolic Syndrome

AOMS1

Dysmetabolic Syndrome X

Metabolic Disease

Abdominal Obesity Metabolic Syndrome

Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency

3-Ketothiolase Deficiency

3-Oxothiolase Deficiency

Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

Alpha-Methylacetoaceticaciduria

Mat Deficiency

T2 Deficiency

2-Methyl-3-Hydroxybutyricacidemia

Beta Ketothiolase Deficiency

Pseudo-Zellweger Syndrome

2-Methyl-3-Hydroxybutyric Acidemia

3-Ktd Deficiency

Peroxisomal Thiolase Deficiency

2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

3-Alpha-Oxothiolase Deficiency

Methylacetoacetyl-Coenzyme A Thiolase Deficiency

Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

Β-Ketothiolase Deficiency

Alpha Methylacetoacetic Aciduria

Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

3KTD

Aciduria, Alpha-Methylacetoacetic

Deficiency Of Acetyl-Coa Acetyltransferase

Deficiency Of Acetyl-Coa Acyltransferase

Hepatic Methionine Adenosyltransferase Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

Liver Leiomyosarcoma

Leiomyosarcoma Of The Liver

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta HADHA VGNC VGNC:103823
Canis familiaris HADHA VGNC VGNC:49107
Felis catus HADHA VGNC VGNC:67532
Bos taurus HADHA VGNC VGNC:49553
Mus musculus HADHA MGD MGI:2135593
Rattus norvegicus HADHA RGD RGD:620512