ETFDH - electron transfer flavoprotein dehydrogenase Gene

Also Known as MADD; ETFQO

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2110

About ETFDH

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:158,672,296-158,709,623 (from NCBI)

This gene has 46 transcripts (splice variants), 206 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 42.8), duodenum (RPKM 28.5) and 25 other tissues.

Summary

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

ETFDH Products (3)

mRNA Protein Name
NM_001281737.2 NP_001268666.1 electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2
NM_001281738.1 NP_001268667.1 electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 3
NM_004453.4 NP_004444.2 electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables 4 iron, 4 sulfur cluster binding IDA
IDA: Inferred from direct assay
18037314 GOA
enables electron transfer activity IDA
IDA: Inferred from direct assay
8306995 GOA
enables electron-transferring-flavoprotein dehydrogenase activity IDA
IDA: Inferred from direct assay
8306995 GOA
enables oxidoreductase activity IDA
IDA: Inferred from direct assay
14640977 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables quinone binding IDA
IDA: Inferred from direct assay
14640977 GOA
enables ubiquinone binding IDA
IDA: Inferred from direct assay
14640977 GOA
Biological Process GO Annotation Evidence References Source
involved in electron transport chain IDA
IDA: Inferred from direct assay
8306995 GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
IMP: Inferred from mutant phenotype
17412732 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
8306995 GOA
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
12049629 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

ETFDH Protein Structure

NAD_binding_8

NAD_binding_8: NAD(P)-binding Rossmann-like domain (73 - 116)

ETF_QO

ETF_QO: Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S (463 - 570)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 617 a.a.
Protein Preferred Names Protein Names

electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

  • ETF dehydrogenase

ETFDH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ETFDH Q16134 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
ETFDH Q16134 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
ETFDH Q16134 KRTAP11-1 Homo sapiens Q8IUC1 32296183
Intra
ETFDH Q16134 TRIM69 Homo sapiens Q86WT6-2 32296183
Intra
ETFDH Q16134 TRIM69 Homo sapiens Q86WT6-2 32296183
Intra
ETFDH Q16134 TRIM69 Homo sapiens Q86WT6-2 32296183
Intra
ETFDH Q16134 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
ETFDH Q16134 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
ETFDH Q16134 KRTAP13-2 Homo sapiens Q52LG2 32296183
Intra
ETFDH Q16134 MYH7B Homo sapiens A7E2Y1-2 32296183
Intra
ETFDH Q16134 MYH7B Homo sapiens A7E2Y1-2 32296183
Intra
ETFDH Q16134 GSC2 Homo sapiens O15499 32296183
Intra
ETFDH Q16134 GSC2 Homo sapiens O15499 32296183
Intra
ETFDH Q16134 ZNF581 Homo sapiens Q9P0T4 32296183
Intra
ETFDH Q16134 ZNF581 Homo sapiens Q9P0T4 32296183
Intra
ETFDH Q16134 ZNF581 Homo sapiens Q9P0T4 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type
  • Glutaric Aciduria Type 2, Mild Type

  • Mad Deficiency, Mild Type

  • Madd, Mild Type

Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type
  • Glutaric Aciduria Type 2, Severe Neonatal Type

  • Mad Deficiency, Severe Neonatal Type

  • Madd, Severe Neonatal Type

Isobutyryl-Coa Dehydrogenase Deficiency
  • Ibd Deficiency

  • Acad8 Deficiency

  • Deficiency Of Isobutyryl-Coa Dehydrogenase

  • IBDD

  • Isobutyryl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase Family, Member 8, Deficiency Of

  • Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency Of

  • Isobutyric Aciduria

  • Deficiency Of Acyl-Coa Dehydrogenase Family Member 8

Riboflavin Deficiency
  • Ariboflavinosis

  • Maternal Riboflavin Deficiency

  • RBFVD

  • Vitamin B2 Deficiency

  • Hyporiboflavinosis

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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

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

Mitochondrial Complex I Deficiency, Nuclear Type 20
  • Acyl-Coa Dehydrogenase 9 Deficiency

  • Acad9 Deficiency

  • MC1DN20

  • Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

  • Nuclear Type Mitochondrial Complex I Deficiency 20

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

  • Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

  • Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Fazio-Londe Disease
  • Fazio-Londe Syndrome

  • Riboflavin Transporter Deficiency Neuronopathy

  • Brown-Vialetto-Van Laere Syndrome

  • Progressive Bulbar Palsy Of Childhood

  • Bulbar Palsy, Progressive, Of Childhood

  • Bvvls

  • Pontobulbar Palsy With Deafness

  • Progressive Bulbar Palsy With Sensorineural Deafness

  • Riboflavin Transporter Deficiency

  • FALOND

  • Bulbar Palsy Progressive Of Childhood

  • Bulbar Palsy Of Childhood, Progressive

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

Progressive Bulbar Palsy
  • Bulbar Palsy, Progressive

  • Progressive Bulbar Atrophy

  • Bulbar Palsy

  • Pbp - [Progressive Bulbar Palsy]

  • Progressive Bulbar Paralysis

  • Bulbar Paralysis

  • Chronic Bulbar Palsy

  • Chronic Bulbar Paralysis

  • Supranuclear Bulbar Paralysis

Brown-Vialetto-Van Laere Syndrome
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

Nuclear Type Mitochondrial Complex I Deficiency
  • Mc1dn

  • Mitochondrial Complex I Deficiency, Nuclear Type

  • Mitochondrial Complex I Deficiency, Nuclear

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

Carnitine-Acylcarnitine Translocase Deficiency
  • Cact Deficiency

  • Carnitine Acylcarnitine Translocase Deficiency

  • CACTD

  • Carnitine-Acylcarnitine Carrier Deficiency

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

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

Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

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

Myopathy
  • Muscular Diseases

  • Myopathies

Chanarin-Dorfman Syndrome
  • Neutral Lipid Storage Disease

  • CDS

  • Neutral Lipid Storage Disease With Ichthyosis

  • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

  • Triglyceride Storage Disease With Ichthyosis

  • Nlsdi

  • Ichthyotic Neutral Lipid Storage Disease

  • Dorfman-Chanarin Syndrome

  • Dcs

  • Chanarin-Dorfman Disease

  • Ichthyosiform Erythroderma With Leukocyte Vacuolation

  • Lipidosis With Triglyceride Storage Disease

  • Disorder Of Cornification 12

  • Dorfman Chanarin Syndrome

  • Neutral Lipid Storage Disease With Ichthyotic

  • Dorfman-Chanarin Disease

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

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

Microcephaly And Chorioretinopathy 2
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

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Mitochondrial Complex Ii Deficiency
  • Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Isolated Succinate-Coenzyme Q Reductase Deficiency

  • Isolated Succinate-Coq Reductase Deficiency

  • Isolated Succinate-Ubiquinone Reductase Deficiency

  • Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Complex 2 Mitochondrial Respiratory Chain Deficiency

  • Succinate Coq Reductase Deficiency

  • Succinate Dehydrogenase Deficiency

  • Isolated Succinate Dehydrogenase Deficiency

  • Succinate-Coenzyme Q Reductase Deficiency

Cardiofaciocutaneous Syndrome 1
  • Cardiofaciocutaneous Syndrome

  • Cfc Syndrome

  • Cardio-Facio-Cutaneous Syndrome

  • CFC1

  • Cfcs

  • Cardio-Facial-Cutaneous Syndrome

  • Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

  • Cardiofaciocutaneous Syndrome, Type 1

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

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

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

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

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 ETFDH VGNC VGNC:40489
Macaca mulatta ETFDH VGNC VGNC:72438
Mus musculus ETFDH MGD MGI:106100
Bos taurus ETFDH VGNC VGNC:28621
Rattus norvegicus ETFDH RGD RGD:735052
Felis catus ETFDH VGNC VGNC:61976
Others ETFDH NCBI