Gene Information

Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters

Source: UniProt

Homotetramer; composed of two disulfide-linked dimers

Source: UniProt

Cytoplasmic vesicle, secretory vesicle lumen, Cytoplasmic vesicle, secretory vesicle, chromaffin granule lumen, Secreted Cytoplasmic vesicle, secretory vesicle membrane — Single-pass type II membrane protein, Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane — Single-pass type II membrane protein

Source: UniProt

Orthostatic hypotension 1 (ORTHYP1)
A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope.

ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia.

Source: UniProt

Catecholamine biosynthesis

Source: Reactome via UniProt

NCT ID	Condition	Brief Title	Phase	Status
NCT00738062	Neurogenic Orthostatic Hypotension, Non-Diabetic Autonomic Neuropathy, Multiple System Atrophy, Dopamine Beta Hydroxylase Deficiency	Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH)	PHASE3	COMPLETED
NCT05687474	Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile, Congenital Hypothyroidism, Deficit in Anterior Pituitary Function and Variable Immunodeficiency, Pituitary Hormone Deficiency, Combined, Diamond Blackfan Anemia, Wiskott-Aldrich Syndrome, Fanconi Anemia, Hemophilia A, Hemophilia B, Glucose 6 Phosphate Dehydrogenase Deficiency, Alpha-Thalassemia, Sickle Cell Disease, Shwachman-Diamond Syndrome, Alpha 1-Antitrypsin Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, Wilson Disease, Progressive Familial Intrahepatic Cholestasis, Crigler-Najjar Syndrome, Familial Chylomicronemia, Lysosomal Acid Lipase Deficiency, Familial Hemophagocytic Lymphocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Severe Congenital Neutropenia, Severe Combined Immune Deficiency, Chronic Granulomatous Disease, Menkes Disease, Adrenoleukodystrophy, Smith-Lemli-Opitz Syndrome, Ataxia With Vitamin E Deficiency, Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type), Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type), Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 2, Deficiency of GOT2, Cerebral Folate Transport Deficiency, Segawa Syndrome, Autosomal Recessive, Congenital Myasthenic Syndrome, Metachromatic Leukodystrophy, Sepiapterin Reductase Deficiency, Dopamine Beta Hydroxylase Deficiency, Glut1 Deficiency Syndrome, Late-Infantile Neuronal Ceroid Lipofuscinosis, Aromatic L-amino Acid Decarboxylase Deficiency, Charcot-Marie-Tooth Disease, Type 6C, Hereditary Hyperekplexia, Brain Dopamine-Serotonin Vesicular Transport Disease, Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency, Tyrosinemia, Type I, Disaccharide Intolerance I, Beta Ketothiolase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency, Pyridoxine-5'-Phosphate Oxidase Deficiency, Pyridoxine-Dependent Epilepsy, Propionic Acidemia, Pompe Disease, Phenylalanine Hydroxylase Deficiency, Ornithine Transcarbamylase Deficiency, N Acetyl Glutamate Synthetase Deficiency, Riboflavin Deficiency, Maple Syrup Urine Disease, Medium Chain Acyl CoA Dehydrogenase Deficiency, Malonic Acidemia, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, Phosphoserine Aminotransferase Deficiency, Phosphoserine Phosphatase Deficiency, Hyperornithinemia-Hyperammonemia-Homocitrullinuria, S-Adenosylhomocysteine Hydrolase Deficiency, Mucopolysaccharidosis VII, Mucopolysaccharidosis VI, Mucopolysaccharidosis IV A, Mucopolysaccharidosis II, Mucopolysaccharidosis I, Transcobalamin Deficiency, Isolated Methylmalonic Acidemia, Cobalamin Deficiency, Homocystinuria, Holocarboxylase Synthetase Deficiency, Fanconi Bickel Syndrome, Glycogen Storage Disease, Glycine Encephalopathy, Glutaric Acidemia I, Glucose Galactose Malabsorption, Gaucher Disease, Type 1, Galactosemias, Fructosemia, Fructose-1,6-Diphosphatase Deficiency, Carbamoyl Phosphate Synthase 1 Deficiency, Citrullinemia Type II, Citrullinemia 1, Creatine Deficiency Syndrome, Systemic Primary Carnitine Deficiency, Carnitine Palmitoyltransferase Deficiency 2, Carnitine Palmitoyltransferase Deficiency 1, Carnitine Acylcarnitine Translocase Deficiency, Riboflavin Transporter Deficiency, Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, Andersen Tawil Syndrome, Timothy Syndrome, Jervell-Lange Nielsen Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Familial Hypertrophic Cardiomyopathy Type 4, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism Type 1, Primary Hyperoxaluria, X Linked Hypophosphatemia, Hereditary Nephrogenic Diabetes Insipidus, Cystinosis, Congenital Nephrotic Syndrome, Finnish Type, Alport Syndrome, Hereditary Retinoblastoma, Biotinidase Deficiency, Aciduria, Argininosuccinic, Argininemia, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, 3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency	Baby Detect : Genomic Newborn Screening	N/A	COMPLETED
NCT02134002	Cocaine Dependence	A PET Exploration of the Mechanism of Action of Dopamine Beta-hydroxylase Inhibition in Cocaine Addicts	PHASE4	WITHDRAWN
NCT02586623	Symptomatic Neurogenic Orthostatic Hypotension	Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension	PHASE4	COMPLETED
NCT00633880	Symptomatic Neurogenic Orthostatic Hypotension (NOH), Non-diabetic Neuropathy, Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency	Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH)	PHASE3	COMPLETED
NCT00659230	Posttraumatic Stress Disorder	Nepicastat for Posttraumatic Stress Disorder (PTSD) in OIF/OEF Veterans	PHASE2	COMPLETED
NCT00889135	Dopamine Beta Hydroxylase (DBH) Deficiency	Long Term Treatment With L-DOPS	N/A	APPROVED_FOR_MARKETING
NCT00149630	Cocaine Dependence, Opioid Dependence	Pharmacogenetics of Disulfiram for Cocaine	PHASE2	COMPLETED
NCT00581477	Autonomic Nervous System Diseases, Orthostatic Hypotension, Dopamine Beta-Hydroxylase Deficiency, Orthostatic Intolerance	Treatment of Orthostatic Hypotension	PHASE2, PHASE3	TERMINATED
NCT01132326	Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency, Non-Diabetic Neuropathy, Neurogenic Orthostatic Hypotension	Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304)	PHASE3	COMPLETED

NCT ID

Condition

Brief Title

Phase

Status

NCT00738062

Neurogenic Orthostatic Hypotension, Non-Diabetic Autonomic Neuropathy, Multiple System Atrophy, Dopamine Beta Hydroxylase Deficiency

Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH)

PHASE3

COMPLETED

NCT05687474

Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile, Congenital Hypothyroidism, Deficit in Anterior Pituitary Function and Variable Immunodeficiency, Pituitary Hormone Deficiency, Combined, Diamond Blackfan Anemia, Wiskott-Aldrich Syndrome, Fanconi Anemia, Hemophilia A, Hemophilia B, Glucose 6 Phosphate Dehydrogenase Deficiency, Alpha-Thalassemia, Sickle Cell Disease, Shwachman-Diamond Syndrome, Alpha 1-Antitrypsin Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, Wilson Disease, Progressive Familial Intrahepatic Cholestasis, Crigler-Najjar Syndrome, Familial Chylomicronemia, Lysosomal Acid Lipase Deficiency, Familial Hemophagocytic Lymphocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Severe Congenital Neutropenia, Severe Combined Immune Deficiency, Chronic Granulomatous Disease, Menkes Disease, Adrenoleukodystrophy, Smith-Lemli-Opitz Syndrome, Ataxia With Vitamin E Deficiency, Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type), Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type), Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 2, Deficiency of GOT2, Cerebral Folate Transport Deficiency, Segawa Syndrome, Autosomal Recessive, Congenital Myasthenic Syndrome, Metachromatic Leukodystrophy, Sepiapterin Reductase Deficiency, Dopamine Beta Hydroxylase Deficiency, Glut1 Deficiency Syndrome, Late-Infantile Neuronal Ceroid Lipofuscinosis, Aromatic L-amino Acid Decarboxylase Deficiency, Charcot-Marie-Tooth Disease, Type 6C, Hereditary Hyperekplexia, Brain Dopamine-Serotonin Vesicular Transport Disease, Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency, Tyrosinemia, Type I, Disaccharide Intolerance I, Beta Ketothiolase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency, Pyridoxine-5'-Phosphate Oxidase Deficiency, Pyridoxine-Dependent Epilepsy, Propionic Acidemia, Pompe Disease, Phenylalanine Hydroxylase Deficiency, Ornithine Transcarbamylase Deficiency, N Acetyl Glutamate Synthetase Deficiency, Riboflavin Deficiency, Maple Syrup Urine Disease, Medium Chain Acyl CoA Dehydrogenase Deficiency, Malonic Acidemia, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, Phosphoserine Aminotransferase Deficiency, Phosphoserine Phosphatase Deficiency, Hyperornithinemia-Hyperammonemia-Homocitrullinuria, S-Adenosylhomocysteine Hydrolase Deficiency, Mucopolysaccharidosis VII, Mucopolysaccharidosis VI, Mucopolysaccharidosis IV A, Mucopolysaccharidosis II, Mucopolysaccharidosis I, Transcobalamin Deficiency, Isolated Methylmalonic Acidemia, Cobalamin Deficiency, Homocystinuria, Holocarboxylase Synthetase Deficiency, Fanconi Bickel Syndrome, Glycogen Storage Disease, Glycine Encephalopathy, Glutaric Acidemia I, Glucose Galactose Malabsorption, Gaucher Disease, Type 1, Galactosemias, Fructosemia, Fructose-1,6-Diphosphatase Deficiency, Carbamoyl Phosphate Synthase 1 Deficiency, Citrullinemia Type II, Citrullinemia 1, Creatine Deficiency Syndrome, Systemic Primary Carnitine Deficiency, Carnitine Palmitoyltransferase Deficiency 2, Carnitine Palmitoyltransferase Deficiency 1, Carnitine Acylcarnitine Translocase Deficiency, Riboflavin Transporter Deficiency, Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, Andersen Tawil Syndrome, Timothy Syndrome, Jervell-Lange Nielsen Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Familial Hypertrophic Cardiomyopathy Type 4, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism Type 1, Primary Hyperoxaluria, X Linked Hypophosphatemia, Hereditary Nephrogenic Diabetes Insipidus, Cystinosis, Congenital Nephrotic Syndrome, Finnish Type, Alport Syndrome, Hereditary Retinoblastoma, Biotinidase Deficiency, Aciduria, Argininosuccinic, Argininemia, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, 3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Baby Detect : Genomic Newborn Screening

N/A

COMPLETED

NCT02134002

Cocaine Dependence

A PET Exploration of the Mechanism of Action of Dopamine Beta-hydroxylase Inhibition in Cocaine Addicts

PHASE4

WITHDRAWN

NCT02586623

Symptomatic Neurogenic Orthostatic Hypotension

Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension

PHASE4