OTC - ornithine transcarbamylase Gene

Homo sapiens

Also known as OCTD; OTC1; OTCD; OTCase

Gene ID: 5009 | Gene type: protein coding

About OTC

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:38,352,604-38,421,446 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 75.1), duodenum (RPKM 47.8) and 1 other tissue.

Summary

This nuclear gene encodes a mitochondrial matrix Enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this Enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]

OTC Products(2)

mRNA	Protein	Name
NM_000531.6	NP_000522.3	ornithine transcarbamylase, mitochondrial precursor
NM_001407092.1	NP_001394021.1	ornithine transcarbamylase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ornithine carbamoyltransferase activity	IDA IDA: Inferred from direct assay	2556444	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ammonium homeostasis	IMP IMP: Inferred from mutant phenotype	2556444	GOA
involved in citrulline biosynthetic process	IDA IDA: Inferred from direct assay	2556444	GOA
involved in ornithine catabolic process	IDA IDA: Inferred from direct assay	2556444	GOA
involved in urea cycle	IDA IDA: Inferred from direct assay	2556444	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	3472484	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

OTC Protein Structure

OTCace_N

OTCace

0
100
200
300
354 a.a.

Protein Preferred Names

Protein Names

ornithine transcarbamylase, mitochondrial

ornithine carbamoyltransferase, mitochondrial

Related Diseases

Diseases

Alias

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency	Ornithine Transcarbamylase Deficiency
Otc Deficiency	Ornithine Carbamoyltransferase Deficiency Disease
OTCD	Deficiency Of Citrulline Phosphorylase
Oct Deficiency	Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
Deficiency, Ornithine Carbamoyltransferase

Disorder Of Ornithine Metabolism

Abnormality Of Ornithine Metabolism

Orotic Aciduria

Hereditary Orotic Aciduria	Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
Uridine Monophosphate Synthase Deficiency	Umps Deficiency
Uridine Monophosphate Synthetase Deficiency	Orotic Aciduria I
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency	Oprt And Odc Deficiency
Ump Synthase Deficiency	Orotic Aciduria Ii
Oroticaciduria 1	Orotic Aciduria Hereditary
Orotic Aciduria Type 1	Hereditary Orotic Aciduria Without Megaloblastic Anemia
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency	Ump Synthtase Deficiency
Umps	Orotidylic Decarboxylase Deficiency
Orotic Aciduria 1	ORAC1
Aciduria, Orotic	Hereditary Orotic Aciduria, Type 1
Orotic Aciduria Nos	Orotaciduric Anaemia
Orotic Aciduria Anaemia	Orotic Aciduria Megaloblastic Anaemia

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

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Carbamoyl Phosphate Synthetase I Deficiency	Cps I Deficiency
Carbamoyl Phosphate Synthetase I Deficiency Disease	Carbamoyl-Phosphate Synthase I Deficiency Disease
Congenital Hyperammonemia, Type I	Carbamoylphosphate Synthetase I Deficiency
Carbamoyl Phosphate Synthetase 1 Deficiency	CPS1D
Carbamoyl Phosphate Synthetase Deficiency	Cps 1 Deficiency
Carbamyl Phosphate Synthetase Deficiency	Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency
Carbamyl-Phosphate Synthetase I Deficiency Disease	Carbamoyl-Phosphate Synthetase 1 Deficiency
Cps1 Deficiency	Carbamoyl-Phosphate Synthetase I Deficiency
Carbamoyl-Phosphate Synthetase Deficiency	Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency
Deficiency, Carbamoylphosphate Synthetase I	Carbamylphosphate Synthetase Deficiency

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

Brain Edema

Cerebral Edema	Intracranial Swelling
Wet Brain

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To

CA5AD	Hyperammonemia Due To Carbonic Anhydrase Va Deficiency
Hyperammonemia

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

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

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase Deficiency

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

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

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

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome	Crigler-Najjar Syndrome Type 1
Bilirubin Udp Glucuronyl Transferase Deficiency	Crigler Najjar Syndrome
Crigler Najjar Syndrome, Type 1	Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
Bilirubin-Ugt Deficiency	Hyperbilirubinemia, Crigler-Najjar Type I
Hblrcn1	Familial Nonhemolytic Unconjugated Hyperbilirubinemia
Hereditary Unconjugated Hyperbilirubinemia	Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1
Bilirubin-Ugt Deficiency Type 1	Crigler-Najjar Syndrome 1
CN1	Cn-I
Crigler-Najjar Syndrome Type I	Hereditary Unconjugated Hyperbilirubinaemia
Ugt Deficiency	Bilirubin Glucuronosyltransferase Deficiency
Crigler-Najjar Disease Or Syndrome	Deficiency Of Glucuronosyltransferase
Glucuronyl Transferase Deficiency	Glucuronyltransferase Deficiency
Udp Glucuronyl Transferase Deficiency	Cns - [Crigler-Najjar Syndrome]
Congenital Familial Nonhemolytic Jaundice

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

Lysinuric Protein Intolerance

LPI	Dibasic Amino Aciduria Ii
Hyperdibasic Aminoaciduria	Dibasic Aminoaciduria 2
Dibasicamino Aciduria Ii	Congenital Lysinuria
Lpi - Lysinuric Protein Intolerance

Acrodermatitis

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]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome	Ornithine Translocase Deficiency
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome	HHHS
Hhh	Triple H Syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Ornithine Translocase Deficiency Syndrome
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome	Ornt1 Deficiency
Ornithine Carrier Deficiency	Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

N-Acetylglutamate Synthase Deficiency

Nags Deficiency	N-Acetylglutamate Synthetase Deficiency
Hyperammonemia, Type Iii	Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
NAGSD	Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
N-Acetyl Glutamate Synthetase Deficiency	Nag Synthetase Deficiency
Deficiency, N-Acetylglutamate Synthase

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency	CTLN2
Citrullinemia Type Ii	Adult-Onset Citrullinemia Type 2
Adult-Onset Type Ii Citrullinemia	Citrullinemia, Adult-Onset Type Ii
Adult-Onset Citrin Deficiency	Adult-Onset Citrullinemia Type Ii
Citrullinemia Type 2	Citrullinemia 2
Citrullinemia, Type Ii

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine 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

Tyrosinemia, Type I

Tyrosinemia Type I	Hepatorenal Tyrosinemia
Fumarylacetoacetase Deficiency	Fah Deficiency
TYRSN1	Fumarylacetoacetate Hydrolase Deficiency
Tyrosinemia Type 1	Tyrosinemia 1
Fumarylacetoacetase

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Hepatoblastoma

Spastic Paraplegia 9b, Autosomal Recessive

SPG9B	Autosomal Recessive Complex Spastic Paraplegia Type 9b
Hereditary Spastic Paraplegia 9b	Autosomal Recessive Spastic Paraplegia 9b
Autosomal Recessive Spastic Paraplegia Type 9b	Ar-Spg9b

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Tyrosinemia

Hypertyrosinemia	Tyrosinemias
Hereditary Tyrosinemia	Hypertyrosinaemia
Tyrosinaemia	Hereditary Hypertyrosinemia

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X	Metabolic Syndrome
AOMS1	Dysmetabolic Syndrome X
Metabolic Disease	Abdominal Obesity Metabolic Syndrome

Blind Loop Syndrome

Bacterial Overgrowth Syndrome

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Adenosine Deaminase Deficiency

Ada Deficiency	Ada-Scid
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Scid Due To Ada Deficiency	Severe Combined Immunodeficiency Due To Ada Deficiency
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Ada
Scid Due To Adenosine Deaminase Deficiency

Tyrosinemia, Type Ii

Tyrosinemia Type Ii	Oculocutaneous Tyrosinemia
Richner-Hanhart Syndrome	Tyrosine Aminotransferase Deficiency
Tat Deficiency	Tyrosine Transaminase Deficiency
Keratosis Palmoplantaris With Corneal Dystrophy	TYRSN2
Oregon Type Tyrosinemia	Tyrosinemia Type 2
Tyrosinosis Oculocutaneous Type	Tyrosinosis, Oculocutaneous Type
Richner Hanhart Syndrome	Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
Tyrosinemia Due To Tat Deficiency	Tyrosinemia Due To Tyrosine Aminotransferase Deficiency
Tyrosinemia 2	Tyrosinemia Oregon Type
Tyrosine Transaminase Deficiency Disease

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

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

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

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125947	4-Epioxytetracycline		99.16%	Unkown
HY-RS09859	OTC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	OTC	RGD	RGD:3236
Macaca mulatta	OTC	VGNC	VGNC:75723
Mus musculus	OTC	MGD	MGI:97448
Felis catus	OTC	VGNC	VGNC:68661
Bos taurus	OTC	VGNC	VGNC:32482
Canis familiaris	OTC	VGNC	VGNC:44174
Others	OTC	NCBI