HADH - hydroxyacyl-CoA dehydrogenase Gene

Also Known as HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3033

About HADH

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:107,989,889-108,035,171 (from NCBI)

This gene has 29 transcripts (splice variants), 182 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 86.5), kidney (RPKM 61.3) and 24 other tissues.

Summary

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]

HADH Products (3)

mRNA Protein Name
NM_001184705.4 NP_001171634.3 hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor
NM_001331027.2 NP_001317956.2 hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3
NM_005327.7 NP_005318.6 hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor
Molecular Function GO Annotation Evidence Verweise Source
enables 3-hydroxyacyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
11489939 GOA
enables NAD+ binding IDA
IDA: Inferred from direct assay
10840044 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
10231530 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in fatty acid beta-oxidation IDA
IDA: Inferred from direct assay
11489939 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HADH Protein Structure

3HCDH_N

3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (29 - 214)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (216 - 313)

  • 0
  • 100
  • 200
  • 300
  • 314 a.a.
Protein Preferred Names Protein Names

hydroxyacyl-coenzyme A dehydrogenase, mitochondrial

  • L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain

HADH Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P86895 HADH Antibody (YA6588) WB, ICC/IF, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Hyperinsulinemic Hypoglycemia, Familial, 4
  • Hyperinsulinism Due To Glutamodehydrogenase Deficiency

  • HHF4

  • Familial Hyperinsulinemic Hypoglycemia 4

  • Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

  • Hyperinsulinism Due To Schad Deficiency

  • Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

  • Congenital Hyperinsulinism

  • Schad Deficiency

  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Phhi

  • 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Deficiency
  • HADH DEFICIENCY

  • Deficiency Of 3-Hydroxyacyl-Coa Dehydrogenase

  • 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

  • Had Deficiency

  • Schad Deficiency

  • Schad Deficiency, Formerly

  • 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

  • 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

  • M/Schad

  • Medium And Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

  • 3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

  • Hadhsc Deficiency

  • L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency

  • M/Schad Deficiency

  • 3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency

  • Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

  • Metabolic Diseases

Hypoglycemia
  • Hypoglycaemia

  • Low Blood Sugar

  • Hypoglycaemia Nos

  • Spontaneous Hypoglycaemia

  • Nondiabetic Hypoglycaemia

  • Hypoglycaemic Disorder Nos

  • Hypoglycaemic Syndrome

Hyperinsulinemic Hypoglycemia
  • Nesidioblastosis

  • Islet Cell Hyperplasia

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Hyperinsulinemic Hypoglycaemia

Hyperinsulinism
  • Hyperinsulinemia

Hyperinsulinemic Hypoglycemia, Familial, 6
  • Hyperinsulinism-Hyperammonemia Syndrome

  • HHF6

  • Familial Hyperinsulinemic Hypoglycemia 6

  • Hi/Ha Syndrome

  • Ha/Hi Syndrome

  • Hyperinsulinemic Hypoglycemia Familial 6

  • Hyperinsulinism Hyperammonemia Syndrome

  • Hhs

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

Myoglobinuria
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

Hyperinsulinemic Hypoglycemia, Familial, 7
  • HHF7

  • Exercise-Induced Hyperinsulinemic Hypoglycemia

  • Exercise-Induced Hyperinsulinism

  • Familial Hyperinsulinemic Hypoglycemia 7

  • Eihi

  • Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency

  • Hyperinsulinism Due To Slc16a1 Deficiency

  • Hyperinsulinemic Hypoglycemia, Exercise-Induced

  • Exercise Induced Hyperinsulinemic Hypoglycemia

  • Hyperinsulinemic Hypoglycemia Exercise-Induced

  • Hyperinsulinemic Hypoglycemia Familial 7

Syndromic X-Linked Intellectual Disability Type 10
  • Hsd10 Deficiency, Atypical Type

  • Hsd10 Disease, Atypical Type

  • X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

  • Mrxs10

  • Mental Retardation, X-Linked, Syndromic 10

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

Fetal Erythroblastosis
  • Erythroblastosis, Fetal

  • Ef - Erythroblastosis Foetalis

  • Erythroblastosis Fetalis

  • Haemolytic Disease Due To Rhesus Isoimmunisation

  • Rhesus Isoimmunisation Of The Newborn

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

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

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

Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

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

Hypoglycemia, Leucine-Induced
  • Leucine-Sensitive Hypoglycemia Of Infancy

  • Leucine-Induced Hypoglycemia

  • LIH

  • Hypoglycemia Of Infancy, Leucine-Sensitive

  • Familial Infantile Hypoglycemia Precipitated By Leucine

  • Hypoglycemia Leucine Induced

  • Hypoglycemia Leucine-Induced

D-Bifunctional Protein Deficiency
  • Bifunctional Peroxisomal Enzyme Deficiency

  • 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

  • Dbp Deficiency

  • Peroxisomal Bifunctional Enzyme Deficiency

  • Pbfe Deficiency

  • Bifunctional Enzyme Deficiency

  • Pseudo-Zellweger Syndrome

  • Zellweger-Like Syndrome

  • DBPD

  • Protein Deficiency, D-Bifunctional

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

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

Shipyard Eye
  • Epidemic Keratoconjunctivitis

  • Ekc

Cystoisosporiasis
  • Isosporiasis

  • Infection By Isospora Belli And Isospora Hominis

  • Isosporosis

  • Infection By Isospora Belli Or Isospora Hominis

  • Isospora Belli Or Hominis Infection

  • Coccidial Infestation

  • Coccidiosis

  • Coccidial Dysentery

  • Intestinal Coccidiosis Nos

Fructose-1,6-Bisphosphatase Deficiency
  • Fructose-1,6-Diphosphatase Deficiency

  • Baker-Winegrad Disease

  • FBP1D

  • Fbpase Deficiency

  • Fructose 1,6 Diphosphatase Deficiency

  • Fructose 1 Phosphate Aldolase Deficiency

  • Fbp1 Deficiency

  • Hereditary Fructose Intolerance Syndrome

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

Argininosuccinic Aciduria
  • Argininosuccinate Lyase Deficiency

  • Asl Deficiency

  • Argininosuccinic Acid Lyase Deficiency

  • Argininosuccinase Deficiency

  • Argininosuccinic Acidemia

  • Arginosuccinase Deficiency

  • Asa Deficiency

  • Argininosuccinicaciduria

  • Asauria

  • Deficiency Of Argininosuccinate Lyase

  • Asld

  • Arginino Succinase Deficiency

  • Argininosuccinate Acidemia

  • Inborn Error Of Urea Synthesis, Arginino Succinic Type

  • Urea Cycle Disorder, Arginino Succinase Type

  • Argininosuccinyl-Coa Lyase Deficiency

  • Asa

  • Argininosuccinatelyase Deficiency

  • ARGINSA

  • Aciduria Argininosuccinic

  • Citrullinemia

  • Argininosuccinic Acidaemia

  • Metabolic Disorder Of Arginosuccinic Acid

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

Asphyxia Neonatorum
  • Birth Asphyxia

  • Postnatal Asphyxia

  • Asphyxia - Birth

  • Asphyxia, In Liveborn Infant

  • Hypoxia Neonatorum

  • Hypoxia, In Liveborn Infant

  • Intrapartum Asphyxia

  • Neonatal Asphyxia

  • Newborn Asphyxia

  • Asphyxia In Liveborn Infant

  • Asphyxia Of Newborn Nos

  • Perinatal Asphyxia

  • Perinatal Hypoxia

  • Newborn Asphyxiation

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

Myopathy
  • Muscular Diseases

  • Myopathies

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

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
Canis familiaris HADH VGNC VGNC:41584
Felis catus HADH VGNC VGNC:78507
Macaca mulatta HADH VGNC VGNC:73342
Bos taurus HADH VGNC VGNC:29741
Mus musculus HADH MGD MGI:96009
Rattus norvegicus HADH RGD RGD:69321
Others HADH NCBI