DBH

Summary

DBH (dopamine beta-hydroxylase, HGNC:2689) is a protein-coding gene on chromosome 9q34.2, encoding Dopamine beta-hydroxylase (P09172). Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters.

The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders.

Source: NCBI Gene 1621 — RefSeq curated summary.

At a glance

• Gene–disease (curated): orthostatic hypotension 1 (Strong, GenCC)
• GWAS associations: 27
• Clinical variants (ClinVar): 559 total — 9 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000787

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2689
Approved symbol	DBH
Name	dopamine beta-hydroxylase
Location	9q34.2
Locus type	gene with protein product
Status	Approved
Aliases	DBM
Ensembl gene	ENSG00000123454
Ensembl biotype	protein_coding
OMIM	609312
Entrez	1621

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000263611, ENST00000393056, ENST00000860939

RefSeq mRNA: 1 — MANE Select: NM_000787 NM_000787

CCDS: CCDS6977

Canonical transcript exons

ENST00000393056 — 12 exons

Exon	Start	End
ENSE00000839438	133642207	133642464
ENSE00001260802	133639846	133639992
ENSE00001891700	133636363	133636710
ENSE00002337984	133652940	133652999
ENSE00002345301	133644218	133644320
ENSE00002373578	133657070	133657229
ENSE00002398371	133651634	133651777
ENSE00002401412	133658316	133659329
ENSE00002402885	133652246	133652284
ENSE00002406160	133656523	133656650
ENSE00002411285	133647846	133648012
ENSE00002704170	133643413	133643589

Expression profiles

Bgee: expression breadth ubiquitous, 146 present calls, max score 90.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5995 / max 334.3138, expressed in 36 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99289	0.5590	31
99290	0.0197	4
99287	0.0075	5
99288	0.0069	4
99286	0.0064	4

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	90.71	gold quality
liver	UBERON:0002107	80.52	gold quality
right adrenal gland	UBERON:0001233	78.30	gold quality
adrenal gland	UBERON:0002369	76.33	gold quality
left adrenal gland	UBERON:0001234	74.99	gold quality
left adrenal gland cortex	UBERON:0035825	74.94	gold quality
adrenal cortex	UBERON:0001235	73.68	gold quality
endometrium epithelium	UBERON:0004811	71.76	gold quality
sympathetic trunk	UBERON:0000407	70.44	gold quality
superior vestibular nucleus	UBERON:0007227	69.09	silver quality
right adrenal gland cortex	UBERON:0035827	69.05	gold quality
metanephros cortex	UBERON:0010533	65.84	gold quality
frontal pole	UBERON:0002795	65.83	gold quality
lymph node	UBERON:0000029	65.81	gold quality
middle frontal gyrus	UBERON:0002702	65.56	gold quality
paraflocculus	UBERON:0005351	65.52	gold quality
body of pancreas	UBERON:0001150	65.27	gold quality
granulocyte	CL:0000094	63.07	gold quality
right frontal lobe	UBERON:0002810	62.76	gold quality
adrenal tissue	UBERON:0018303	61.81	gold quality
cerebellar vermis	UBERON:0004720	61.77	gold quality
cingulate cortex	UBERON:0003027	61.25	gold quality
prefrontal cortex	UBERON:0000451	61.20	gold quality
anterior cingulate cortex	UBERON:0009835	61.03	gold quality
medulla oblongata	UBERON:0001896	60.82	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	60.65	gold quality
Brodmann (1909) area 9	UBERON:0013540	59.59	gold quality
metanephros	UBERON:0000081	59.55	gold quality
pituitary gland	UBERON:0000007	59.24	gold quality
pharyngeal mucosa	UBERON:0000355	59.06	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	5.62
E-HCAD-30	no	97.37
E-ANND-3	no	1.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ASCL1, ATF1, CREB1, CREM, CTNNB1, CUX1, EGR1, EPAS1, ESR1, ESR2, FOS, FOSL2, GATA3, HAND1, HAND2, JUN, JUND, MEF2A, MYCN, NR3C1, NR4A2, PHOX2A, PHOX2B, REPIN1, SP1, TBP, TCF3, TFAP2A, TFAP4, YY1

miRNA regulators (miRDB)

22 targeting DBH, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-4632-3P	96.26	58.52	123
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280
HSA-MIR-1268A	87.06	61.46	145
HSA-MIR-1268B	87.06	61.46	145

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Seven novel variants including four potentially pathogenic mutations in the human DBH gene (OMIM 223360) from analysis of two norepinephrine deficiency patients. (PMID:11857564)
• The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status (PMID:11943777)
• single nucleotide polymorphism in smokers (PMID:12360111)
• Allelic and haplotype distributions of two polymorphisms suggest that the DBH gene is not a causative factor in schizophrenia but that it may be a modulator of psychotic symptoms, severity of the disorder and therapeutic response to neuroleptic drugs. (PMID:12555232)
• susceptibility loci at the DBH for attention deficit disorder with hyperactivity. (PMID:12660802)
• results indicate that the DBH TaqI A allele, or another polymorphism in linkage disequilibrium with this allele, may confer increased susceptibility towards ADHD. (PMID:12707943)
• Linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma DBH activity. (PMID:12730829)
• Genetic variants of the DBH gene are not associated with the autoimmune diseases orthostatic intolerance, pure autonomic failure, and multiple system atrophy. (PMID:12833405)
• No major involvement of the DBH gene in schizophrenia in the Swedish population investigated. (PMID:12960750)
• This study report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against Parkinson’s disease (PMID:14991826)
• No support for a role for the dopamine beta-hydroxylase gene allele and atention deficit hyperactivity disorder. (PMID:15167700)
• The results suggest that the DOPAMINE BETA HYDROXYLASE -1021C–>T variant does not contribute to epilepsy. (PMID:15505174)
• There is an association between DBH gene and ADHD comorbid with or without DBD, but the preferential transmission alleles are different (PMID:15796803)
• investigation reinforces the possible association between DRD2 and smoking risk and provides preliminary indication that the DBH gene may influence smoking behavior (PMID:16032443)
• significant interaction between the DBH -1021C/T polymorphism and fasting plasma glucose (FPG) in the association with hypertension (PMID:16097364)
• No significant differences were observed in allele or genotype frequencies between alcoholics and controls and no association was detected between the polymorphisms and personality dimensions (PMID:16133787)
• Altered homospecific activity of the enzyme can contribute to variation in plasma DBH activity. (PMID:16152569)
• Frequencies of DBH alleles and genotypes of individuals with mild withdrawal symptoms did not differ significantly from those of patients with delirium tremens or alcohol withdrqwal syndrome. (PMID:16252068)
• Single nucleotide polymorphisms(rs2519152) associates with plasma dopamine beta-hydroxylase activity (pDbetaH) in attention-deficit/hyperactivity disorder. (PMID:16616730)
• The DBH TaqI A2 allele, when homozygous, was associated with being more hyperactive in childhood, having more pervasive behavior problems at adolescence. (PMID:16741944)
• Impaired temporal resolution of visual attention of attention-deficit/hyperactivity disorder is associate with dopamine beta-hydroxylase. (PMID:16876143)
• A significant effect of DBH genotype was found on SART performance. Children possessing two copies of the ADHD-associated risk allele (A2) had significantly poorer sustained attention than ADHD children without this allele. (PMID:17131588)
• individuals homozygous for the ‘very low-activity’ T allele of dopamine beta-hydroxylase show an increased propensity to paranoia (PMID:17157269)
• This article reviews DBH and polymorphisms in the DBH gene that influence DBH activity in the serum and the CSF level of DBH. All those are evaluated in connection with ADHD. (PMID:17187001)
• The 19bp insertion/deletion polymorphism of the DBH gene influences cognition in elderly women. Both genetic polymorphisms had a significantly smaller impact on cognition than age, education, alcohol consumption and body fat measures. (PMID:17200925)
• we found no evidence for an effect of genotype on age at onset among patients. Our findings argue against dopamine beta-hydroxylase -1021C–>T as a risk factor or age at onset modifier in Parkinson’s disease. (PMID:17503507)
• Although DBH activity and genotype are unlikely to be primary determinants of susceptibility to POTS, differences in DBH activity in POTS may reflect differences in the level of sympathetic activation. (PMID:17625104)
• Dopamine beta-hydroxylase activity and polymorphism is associated with combat-related post-traumatic stress disorder (PMID:17853400)
• study reports evidence for association of Attention-deficit/hyperactivity disorder (ADHD)with allelic variants of the dopamine beta-hydroxylase (DBH) and dopamine receptor D2 (DRD2) genes (PMID:18030083)
• the tyramine beta-monooxygenase mechanism is different from that of the mammalian enzyme, dopamine beta-monooxygenase (PMID:18032384)
• association between the neuropsychological performance of children with ADHD and a functional polymorphism in the promoter region of the DBH gene (PMID:18081028)
• Effect of genetic polymorphisms on plDbetaH from the Indian sub-continent. (PMID:18172755)
• This study suggests a potential role for Trim11 in the specification of NA phenotype by interaction with Phox2b. (PMID:18275850)
• Data show that forced expression of GATA-3 resulted in an increased number of dopamine beta-hydroxylase (DBH)-expressing neurons in primary neural crest stem cell (NCSC) culture, suggesting that the DBH gene may be a downstream target gene of GATA-3. (PMID:18338249)
• Risk of ADHD is significantly increased in the presence of allele DBH +444A as well as in the presence of allele DBH +1603T. (PMID:18404133)
• The resoults of this study indicate that DBH -1021C>T does not play a major role in the pathogenesis of Parkinson’s disease. (PMID:18722802)
• Our results thus do not implicate the DBH C-1021T polymorphism in the pathophysiology of depressive disorders or personality disorders (PMID:18982239)
• DBH G allele carriers showed the best memory performance and greatest benefit of visuospatial attention on memory when the two systems interacted and working memory was manipulated by attention. (PMID:19016604)
• While fasting failed to induce torpor in Dbh -/- mice, leptin deficiency bypassed the requirement for norepinephrine, as double mutant mice readily entered torpor upon fasting. (PMID:19107190)
• The present study suggests that the -1021C/T DBH polymorphism affects the personality trait of harm avoidance in healthy females. (PMID:19560519)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dbh	ENSDARG00000069446
mus_musculus	Dbh	ENSMUSG00000000889
rattus_norvegicus	Dbh	ENSRNOG00000006641
drosophila_melanogaster	Tbh	FBGN0010329
caenorhabditis_elegans		WBGENE00006541

Paralogs (1): MOXD1 (ENSG00000079931)

Protein

Protein identifiers

Dopamine beta-hydroxylase — P09172 (reviewed: P09172)

Alternative names: Dopamine beta-monooxygenase

All UniProt accessions (2): P09172, Q5T382

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Homotetramer; composed of two disulfide-linked dimers.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle lumen. Secretory vesicle. Chromaffin granule lumen. Secreted Cytoplasmic vesicle. Secretory vesicle membrane. Chromaffin granule membrane.

Post-translational modifications. N-glycosylated. Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form.

Disease relevance. Orthostatic hypotension 1 (ORTHYP1) [MIM:223360] 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. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 2 copper ions per subunit.

Induction. Activity is enhanced by nerve growth factor (in superior cervical ganglia and adrenal medulla). Trans-synaptic stimulation with reserpine, acetylcholine and glucocorticoids.

Pathway. Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1.

Polymorphism. There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318.

Similarity. Belongs to the copper type II ascorbate-dependent monooxygenase family.

RefSeq proteins (1): NP_000778* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000323	Cu2_ascorb_mOase_N	Domain
IPR000945	DBH-like	Family
IPR005018	DOMON_domain	Domain
IPR008977	PHM/PNGase_F_dom_sf	Homologous_superfamily
IPR014783	Cu2_ascorb_mOase_CS-2	Conserved_site
IPR014784	Cu2_ascorb_mOase-like_C	Homologous_superfamily
IPR020611	Cu2_ascorb_mOase_CS-1	Conserved_site
IPR024548	Cu2_monoox_C	Domain
IPR028460	Tbh/DBH	Family
IPR036939	Cu2_ascorb_mOase_N_sf	Homologous_superfamily
IPR045266	DOH_DOMON	Domain

Pfam: PF01082, PF03351, PF03712

Enzyme classification (BRENDA):

• EC 1.14.17.1 — dopamine beta-monooxygenase (BRENDA: 14 organisms, 54 substrates, 63 inhibitors, 92 Km, 19 kcat entries)

Substrate kinetics (BRENDA)

31 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
TYRAMINE	0.0252–2.3	31
BETA,BETA-DIDEUTERATED TYRAMINE	0.0906–0.341	13
ASCORBATE	0.6–16	12
1-HYDROXY-3-(4-METHOXYPHENYL)GUANIDINE	2.8–7.2	3
3-PHENYLPROPYLAMINE	12.2–20.4	2
O2	0.14–2.8	2
PHENYL 2-AMINOETHYL SULFIDE	17.2–26.5	2
PHENYLACETALDEHYDE	7.4–7.9	2
1-(4-CHLOROPHENYL)-3-HYDROXYGUANIDINE	0.45	1
1-(4-HYDROXYBENZYL)IMIDAZOLE	1.9	1
1-PHENYL-1-AMINOMETHYLETHENE	8.3	1
2-(4-HYDROXYPHENYL)PROP-2-ENYLAMINE	1.3	1
2-AMINOINDANE	3.8	1
2-BROMO-3-(P-HYDROXYPHENYL)-1-PROPENE	5.9	1
2-CHLOROPHENETHYLAMINE	5.1	1

Catalyzed reactions (Rhea), 1 shown:

• dopamine + 2 L-ascorbate + O2 = (R)-noradrenaline + 2 monodehydro-L-ascorbate radical + H2O (RHEA:19117)

UniProt features (83 total): strand 36, sequence variant 12, disulfide bond 8, binding site 6, glycosylation site 4, helix 4, chain 2, topological domain 2, turn 2, active site 2, site 1, transmembrane region 1, sequence conflict 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4ZEL	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09172-F1	90.58	0.72

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 39–40 (cleavage); 230; 412

Ligand- & substrate-binding residues (6): 263; 333; 412; 414; 487; 262

Disulfide bonds (8): 154–596, 232–283, 269–295, 390–503, 394–565, 466–488, 528, 530

Glycosylation sites (4): 64, 184, 344, 566

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-209905	Catecholamine biosynthesis

MSigDB gene sets: 262 (showing top): GOBP_MEMORY, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ETHANOL, GOBP_COGNITION, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_BEHAVIOR, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_RESPONSE_TO_AMINE, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOCC_SECRETORY_GRANULE, GOBP_ADULT_BEHAVIOR, GOBP_ASSOCIATIVE_LEARNING, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN

GO Biological Process (25): blood vessel remodeling (GO:0001974), response to amphetamine (GO:0001975), leukocyte mediated immunity (GO:0002443), octopamine biosynthetic process (GO:0006589), chemical synaptic transmission (GO:0007268), memory (GO:0007613), locomotory behavior (GO:0007626), visual learning (GO:0008542), homoiothermy (GO:0042309), vasoconstriction (GO:0042310), dopamine catabolic process (GO:0042420), norepinephrine biosynthetic process (GO:0042421), glucose homeostasis (GO:0042593), fear response (GO:0042596), maternal behavior (GO:0042711), positive regulation of vasoconstriction (GO:0045907), behavioral response to ethanol (GO:0048149), response to pain (GO:0048265), leukocyte migration (GO:0050900), positive regulation of cold-induced thermogenesis (GO:0120162), regulation of vascular associated smooth muscle cell proliferation (GO:1904705), regulation of vascular endothelial cell proliferation (GO:1905562), regulation of extrinsic apoptotic signaling pathway (GO:2001236), associative learning (GO:0008306), catecholamine biosynthetic process (GO:0042423)

GO Molecular Function (9): catalytic activity (GO:0003824), dopamine beta-monooxygenase activity (GO:0004500), copper ion binding (GO:0005507), L-ascorbic acid binding (GO:0031418), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715), metal ion binding (GO:0046872)

GO Cellular Component (13): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), transport vesicle membrane (GO:0030658), secretory granule membrane (GO:0030667), centriolar satellite (GO:0034451), chromaffin granule lumen (GO:0034466), secretory granule lumen (GO:0034774), chromaffin granule membrane (GO:0042584), synapse (GO:0045202), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of amine-derived hormones	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
multicellular organismal response to stress	2
positive regulation of multicellular organismal process	2
cytoplasm	2
cytoplasmic vesicle membrane	2
bounding membrane of organelle	2
secretory granule	2
chromaffin granule	2
tissue remodeling	1
response to amine	1
immune effector process	1
biogenic amine biosynthetic process	1
alcohol biosynthetic process	1
phenol-containing compound biosynthetic process	1
octopamine metabolic process	1
anterograde trans-synaptic signaling	1
learning or memory	1
behavior	1
visual behavior	1
associative learning	1
temperature homeostasis	1
blood vessel diameter maintenance	1
dopamine metabolic process	1
catecholamine catabolic process	1
norepinephrine metabolic process	1
catecholamine biosynthetic process	1
carbohydrate homeostasis	1
parental behavior	1
regulation of vasoconstriction	1
vasoconstriction	1
adult behavior	1
response to ethanol	1
immune system process	1
cell migration	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
molecular_function	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	1
transition metal ion binding	1
vitamin binding	1

Protein interactions and networks

STRING

1178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DBH	TH	P07101	970
DBH	PNMT	P11086	901
DBH	MAOA	P21397	877
DBH	PHOX2A	O14813	861
DBH	MAOB	P27338	850
DBH	CYB561	P49447	846
DBH	GAL	P22466	822
DBH	PHOX2B	Q99453	820
DBH	DDC	P20711	820
DBH	SLC6A3	Q01959	812
DBH	COMT	P21964	808
DBH	TAC1	P20366	799
DBH	DRD4	P21917	775
DBH	NPY	P01303	775
DBH	CHAT	P28329	764

IntAct

68 interactions, top by confidence:

A	B	Type	Score
DBH	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.560
AP2B1	DBH	psi-mi:“MI:0915”(physical association)	0.560
ALDH1A1	DBH	psi-mi:“MI:0915”(physical association)	0.560
HNRNPK	DBH	psi-mi:“MI:0915”(physical association)	0.560
KRT19	DBH	psi-mi:“MI:0915”(physical association)	0.560
BRK1	DBH	psi-mi:“MI:0915”(physical association)	0.560
RNF112	DBH	psi-mi:“MI:0915”(physical association)	0.560
COPS3	DBH	psi-mi:“MI:0915”(physical association)	0.560
	DBH	psi-mi:“MI:0915”(physical association)	0.560
LPIN1	DBH	psi-mi:“MI:0915”(physical association)	0.560
KLHL20	DBH	psi-mi:“MI:0915”(physical association)	0.560
OTUD7B	DBH	psi-mi:“MI:0915”(physical association)	0.560
SKIC8	DBH	psi-mi:“MI:0915”(physical association)	0.560
SPATA2L	DBH	psi-mi:“MI:0915”(physical association)	0.560
H3C13	DBH	psi-mi:“MI:0915”(physical association)	0.560
RNF183	DBH	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	DBH	psi-mi:“MI:0915”(physical association)	0.560
SAMD3	DBH	psi-mi:“MI:0915”(physical association)	0.560
PIK3R1	DBH	psi-mi:“MI:0915”(physical association)	0.560
KLK6	DBH	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (17): DBH (Affinity Capture-MS), DBH (Affinity Capture-Western), DBH (Affinity Capture-MS), DBH (Affinity Capture-MS), TK1 (Negative Genetic), SSTR5 (Negative Genetic), PIK3CD (Negative Genetic), TPSAB1 (Negative Genetic), DBH (Positive Genetic), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), LEMD3 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), DBH (Two-hybrid), DBH (Two-hybrid)

ESM2 similar proteins: A0A6J2ATK2, A6NHM9, H6AGY0, M3XFH7, O16169, O16171, P09172, P12890, P15101, P25725, P42658, P46101, P50282, P58781, P83388, P97321, P97629, P98073, Q05754, Q08CS6, Q10916, Q21540, Q27591, Q2M2H8, Q5GRG2, Q5TZ24, Q61P40, Q62803, Q64237, Q68CI2, Q6AW46, Q6Q4G3, Q6UVY6, Q7TT41, Q86B61, Q8C129, Q95NZ0, Q95XM2, Q98ST7, Q9CXI3

Diamond homologs: A6NHM9, P09172, P15101, Q05754, Q08CS6, Q5TZ24, Q64237, Q68CI2, Q6UVY6, Q7TT41, Q86B61, Q98ST7, Q9CXI3, Q9XTA0, Q61P40, Q9VUY0, Q9XTQ6, Q6NP60, P08478

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
nepicastat	down-regulates	DBH	“chemical inhibition”
DBH	“down-regulates quantity”	dopamine	“chemical modification”
DBH	“up-regulates quantity”	noradrenaline	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

559 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	1
Uncertain significance	260
Likely benign	175
Benign	66

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1750	NM_000787.4(DBH):c.339+2T>C	Pathogenic
1982984	NM_000787.4(DBH):c.715A>T (p.Lys239Ter)	Pathogenic
2022460	NM_000787.4(DBH):c.1002C>A (p.Tyr334Ter)	Pathogenic
2285225	NM_000787.4(DBH):c.382C>T (p.Gln128Ter)	Pathogenic
2423393	NC_000009.11:g.(?136501494)(136505134_?)del	Pathogenic
2757215	NM_000787.4(DBH):c.1239_1242del (p.Thr413_His414insTer)	Pathogenic
2761924	NM_000787.4(DBH):c.945del (p.Gly316fs)	Pathogenic
4708159	NM_000787.4(DBH):c.223C>T (p.Gln75Ter)	Pathogenic
846731	NM_000787.4(DBH):c.468dup (p.Lys157fs)	Pathogenic
3693086	NM_000787.4(DBH):c.1192-1G>A	Likely pathogenic

SpliceAI

1922 predictions. Top by Δscore:

Variant	Effect	Δscore
9:133636707:TGCGG:T	donor_loss	1.0000
9:133636708:GCG:G	donor_gain	1.0000
9:133636710:GGTG:G	donor_loss	1.0000
9:133636711:G:GG	donor_gain	1.0000
9:133636711:GTGA:G	donor_loss	1.0000
9:133636712:T:A	donor_loss	1.0000
9:133639978:GAT:G	donor_gain	1.0000
9:133639990:G:GT	donor_gain	1.0000
9:133639990:GAA:G	donor_gain	1.0000
9:133639993:G:GG	donor_gain	1.0000
9:133642205:A:AG	acceptor_gain	1.0000
9:133642205:AGGAC:A	acceptor_gain	1.0000
9:133642206:G:GG	acceptor_gain	1.0000
9:133642206:GGAC:G	acceptor_gain	1.0000
9:133642206:GGACG:G	acceptor_gain	1.0000
9:133642463:AG:A	donor_gain	1.0000
9:133642464:GG:G	donor_gain	1.0000
9:133642465:G:GA	donor_loss	1.0000
9:133643411:A:AG	acceptor_gain	1.0000
9:133643412:G:GG	acceptor_gain	1.0000
9:133643586:CAAGG:C	donor_loss	1.0000
9:133643587:AAGGT:A	donor_loss	1.0000
9:133643590:G:GA	donor_loss	1.0000
9:133643591:T:A	donor_loss	1.0000
9:133648009:GCTG:G	donor_gain	1.0000
9:133648010:CTGGT:C	donor_loss	1.0000
9:133648011:TGG:T	donor_loss	1.0000
9:133648012:GGTG:G	donor_loss	1.0000
9:133648013:G:A	donor_loss	1.0000
9:133648013:G:GG	donor_gain	1.0000

AlphaMissense

4036 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:133643455:C:G	H263D	0.998
9:133643456:A:C	H263P	0.998
9:133643467:T:C	F267L	0.998
9:133643468:T:G	F267C	0.998
9:133643469:C:A	F267L	0.998
9:133643469:C:G	F267L	0.998
9:133643572:T:A	W302R	0.998
9:133643572:T:C	W302R	0.998
9:133644293:C:G	H333D	0.998
9:133642414:T:A	C232S	0.997
9:133642415:G:C	C232S	0.997
9:133643473:T:A	C269S	0.997
9:133643474:G:C	C269S	0.997
9:133643574:G:C	W302C	0.997
9:133643574:G:T	W302C	0.997
9:133644285:T:C	L330P	0.997
9:133651676:C:G	H412D	0.997
9:133656601:A:C	S505R	0.997
9:133656603:C:A	S505R	0.997
9:133656603:C:G	S505R	0.997
9:133643450:T:A	V261D	0.996
9:133643452:C:G	H262D	0.996
9:133643455:C:A	H263N	0.996
9:133643457:C:A	H263Q	0.996
9:133643457:C:G	H263Q	0.996
9:133643551:T:A	C295S	0.996
9:133643552:G:C	C295S	0.996
9:133643567:C:A	A300D	0.996
9:133644296:T:G	Y334D	0.996
9:133651682:C:G	H414D	0.996

dbSNP variants (sampled 300 via entrez): RS1000028611 (9:133656263 G>A,C), RS1000271562 (9:133656917 G>A), RS1000298149 (9:133647118 C>G,T), RS1000310701 (9:133652150 G>A,T), RS1000317972 (9:133637734 C>G), RS1000540999 (9:133648527 C>T), RS1000564313 (9:133642543 G>T), RS1000572013 (9:133648298 T>C), RS1000629365 (9:133648016 A>G,T), RS1000839506 (9:133652821 G>A), RS1001277848 (9:133659764 C>T), RS1001311278 (9:133650449 TCTTTC>T), RS1001451664 (9:133659706 T>G), RS1001490646 (9:133636976 A>C), RS1001680787 (9:133650667 C>A,T)

Disease associations

OMIM: gene MIM:609312 | disease phenotypes: MIM:223360

GenCC curated gene-disease

Disease	Classification	Inheritance
orthostatic hypotension 1	Strong	Autosomal recessive

Mondo (2): orthostatic hypotension 1 (MONDO:0009123), sensorineural hearing loss disorder (MONDO:0020678)

Orphanet (1): Dopamine beta-hydroxylase deficiency (Orphanet:230)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000017	Nocturia
HP:0000218	High palate
HP:0000508	Ptosis
HP:0000622	Blurred vision
HP:0000842	Hyperinsulinemia
HP:0000855	Insulin resistance
HP:0001156	Brachydactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001278	Orthostatic hypotension
HP:0001279	Syncope
HP:0001315	Reduced tendon reflexes
HP:0001382	Joint hypermobility
HP:0001488	Bilateral ptosis
HP:0001742	Nasal congestion
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0001998	Neonatal hypoglycemia
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002045	Hypothermia
HP:0002094	Dyspnea
HP:0002321	Vertigo
HP:0002360	Sleep disturbance
HP:0002917	Hypomagnesemia
HP:0003115	Abnormal EKG
HP:0003138	Increased blood urea nitrogen

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000666_3	Smoking behavior	4.000000e-08
GCST003262_1013	Post bronchodilator FEV1	4.000000e-06
GCST003262_964	Post bronchodilator FEV1	9.000000e-09
GCST003262_985	Post bronchodilator FEV1	9.000000e-07
GCST003264_1408	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003264_1427	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003264_1431	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003264_1449	Post bronchodilator FEV1/FVC ratio	7.000000e-07
GCST003264_1460	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST003264_1464	Post bronchodilator FEV1/FVC ratio	5.000000e-06
GCST003264_641	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST004750_25	Squamous cell lung carcinoma	9.000000e-07
GCST004777_17	Diastolic blood pressure	4.000000e-07
GCST006231_36	Mean arterial pressure	4.000000e-07
GCST006258_11	Diastolic blood pressure	2.000000e-18
GCST006259_18	Systolic blood pressure	5.000000e-11
GCST007267_339	Systolic blood pressure	9.000000e-10
GCST007604_2	Smoking cessation	4.000000e-12
GCST008496_5	Nicotine dependence	5.000000e-07
GCST008496_6	Nicotine dependence	5.000000e-07
GCST008803_6	Smoking behaviour (cigarette pack-years)	2.000000e-21
GCST008809_6	Smoking behaviour (cigarettes smoked per day)	6.000000e-11
GCST010796_2853	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST011701_2	Smoking status (current vs mixed)	1.000000e-10
GCST011702_12	Smoking cessation	1.000000e-27
GCST011704_10	Smoking status (current vs never)	2.000000e-11
GCST011754_4	Nicotine dependence	2.000000e-13

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0006335	systolic blood pressure
EFO:0004319	smoking cessation
EFO:0009115	tobacco smoke exposure measurement
EFO:0006525	cigarettes per day measurement
EFO:0004327	electrocardiography
EFO:0006527	smoking status measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535600	dopamine beta hydroxylase deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3102 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 16,266 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL286494	HYPERICIN	3	16,266

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

6 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1611114	Toxicity	3	heroin	Heroin Dependence;Memory impairment
rs1611115	Other	3	Analgesics;Antiinflammatory agents;non-steroids;Ergot alkaloids;opioids;sumatriptan	Substance Withdrawal Syndrome
rs1611115	Efficacy	3	levodopa	Cocaine dependence
rs1611115	Efficacy	3	naltrexone	Alcohol abuse
rs1611131	Toxicity	3	opioids	Opioid-Related Disorders
rs2873804	Efficacy	3	bupropion	Major Depressive Disorder

PharmGKB variants

10 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs77905	DBH		0.00	0
rs1541333	DBH		0.00	0
rs1611115	DBH	3	2.25	3	Analgesics;Antiinflammatory agents;non-steroids;Ergot alkaloids;opioids;sumatriptan;levodopa;naltrexone
rs1611131	DBH, DBH-AS1	3	3.00	1	opioids
rs2873804	DBH	3	2.75	1	bupropion
rs129882	DBH, DBH-AS1		0.00	0
rs1611114	DBH	3	3.00	1	heroin
rs5320	DBH		0.00	0
rs129915	DBH		0.00	0
rs6479643	DBH		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Catecholamine turnover

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
nepicastat	Inhibition	8.0	pIC50

ChEMBL bioactivities

25 potent at pChembl≥5 of 69 total, top 16 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.13	IC50	74.13	nM	CHEMBL433493
6.17	IC50	676.1	nM	CHEMBL63990
5.92	IC50	1202	nM	CHEMBL278068
5.82	IC50	1514	nM	CHEMBL64937
5.70	IC50	1995	nM	CHEMBL67235
5.70	IC50	2000	nM	CHEMBL3357560
5.70	IC50	2000	nM	TROPOLONE
5.66	IC50	2188	nM	CHEMBL67369
5.66	Kd	2177	nM	CHEMBL3752910
5.65	ED50	2259	nM	CHEMBL3752910
5.62	IC50	2399	nM	CHEMBL293669
5.59	IC50	2570	nM	CHEMBL164747
5.52	IC50	3000	nM	CHEMBL135189
5.52	Kd	3025	nM	CHEMBL5653589
5.50	ED50	3138	nM	CHEMBL5653589
5.25	IC50	5623	nM	CHEMBL63907

PubChem BioAssay actives

23 with measured affinity, of 135 total; 14 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-[(3,5-difluoro-4-hydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	0.0741	uM
3-[(3,5-dichloro-4-hydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	0.6761	uM
3-[(3,5-difluorophenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	1.2023	uM
3-[(3-fluoro-4-hydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	1.5136	uM
3-[(3-chloro-4-hydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	1.9953	uM
2-hydroxycyclohepta-2,4,6-trien-1-one	1232066: Inhibition of dopamine beta-oxygenase (unknown origin)	ic50	2.0000	uM
2,3-dihydroxycyclohepta-2,4,6-trien-1-one	1232066: Inhibition of dopamine beta-oxygenase (unknown origin)	ic50	2.0000	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148195: Binding affinity to human DBH incubated for 45 mins by Kinobead based pull down assay	kd	2.1775	uM
3-[(3,4-dihydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	2.1878	uM
3-[(3,5-dichlorophenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	2.3988	uM
3-[(4-hydroxyphenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	2.5704	uM
2,3,4-trihydroxycyclohepta-2,4,6-trien-1-one	1232066: Inhibition of dopamine beta-oxygenase (unknown origin)	ic50	3.0000	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148195: Binding affinity to human DBH incubated for 45 mins by Kinobead based pull down assay	kd	3.0249	uM
3-[(3-fluorophenyl)methyl]-1H-imidazole-2-thione	62155: Inhibition of dopamine beta hydroxylase	ic50	5.6234	uM

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Cocaine	increases response to substance	2
Disulfiram	affects response to substance, decreases activity	2
Tretinoin	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, increases methylation	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression	1
manganese chloride	increases methylation	1
aflatoxin B2	decreases methylation	1
beta-methylcholine	affects expression	1
methyllycaconitine	decreases reaction, increases expression, affects binding, decreases activity	1
Lamotrigine	increases response to substance	1
Artesunate	increases response to substance	1
Acetaminophen	decreases expression	1
Aluminum Hydroxide	increases expression, affects cotreatment	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Bromocriptine	decreases activity	1
Contraceptives, Oral	increases activity	1
Copper	affects cotreatment, decreases expression	1
Clioquinol	decreases secretion, increases expression	1
Levodopa	decreases activity	1
Nicotine	affects binding, decreases activity, decreases reaction, increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Sarin	decreases expression	1
Thimerosal	increases expression, affects cotreatment	1

ChEMBL screening assays

7 unique, capped per target: 6 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3593060	Binding	Inhibition of dopamine beta-oxygenase (unknown origin)	The biology and synthesis of α-hydroxytropolones. — Medchemcomm
CHEMBL862374	Functional	Effect on DBH activity in presence of dopamine by measuring Noradrenaline level	Synthesis and biological evaluation of novel, peripherally selective chromanyl imidazolethione-based inhibitors of dopamine beta-hydroxylase. — J Med Chem

Clinical trials (associated diseases)

98 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00633880	PHASE3	COMPLETED	Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH)
NCT00738062	PHASE3	COMPLETED	Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH)
NCT00782340	PHASE3	COMPLETED	A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa
NCT01132326	PHASE3	COMPLETED	Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304)
NCT01927055	PHASE3	TERMINATED	A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy
NCT01655212	PHASE3	TERMINATED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial
NCT02005822	PHASE3	COMPLETED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment
NCT03374514	PHASE3	UNKNOWN	Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery
NCT02497690	PHASE2	COMPLETED	Effectiveness of Therapy Via Telemedicine Following Cochlear Implants
NCT03107871	PHASE2	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants
NCT04120116	PHASE2	COMPLETED	FX-322 in Adults With Stable Sensorineural Hearing Loss
NCT05061758	PHASE2	WITHDRAWN	A Trial of LY3056480 in Patients With SNLH
NCT07364747	PHASE2	RECRUITING	Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial
NCT00748059	PHASE1	COMPLETED	The Pathophysiology of Orthostatic Hypotension
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT00581477	PHASE2/PHASE3	TERMINATED	Treatment of Orthostatic Hypotension
NCT00889135	Not specified	APPROVED_FOR_MARKETING	Long Term Treatment With L-DOPS
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT02693704	PHASE2/PHASE3	COMPLETED	Evaluation of a Binaural Spatialization Method for Hearing Aids
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01267994	PHASE1/PHASE2	COMPLETED	A Clinical Trial of Anakinra for Steroid-Resistant Autoimmune Inner Ear Disease
NCT01902914	PHASE1/PHASE2	UNKNOWN	Effectiveness of P02 Digital Hearing Aids
NCT02038972	PHASE1/PHASE2	COMPLETED	Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss
NCT02616172	PHASE1/PHASE2	SUSPENDED	Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss
NCT03616223	PHASE1/PHASE2	COMPLETED	FX-322 in Sensorineural Hearing Loss
NCT04129775	PHASE1/PHASE2	COMPLETED	OTO-413 in Subjects With Speech-in-Noise Hearing Impairment
NCT04462198	PHASE1/PHASE2	COMPLETED	Phase I/IIa Study Evaluating Safety and Efficacy of an Intratympanic Dose of PIPE-505 in Subjects With Hearing Loss
NCT07032038	PHASE1/PHASE2	NOT_YET_RECRUITING	First In Human Randomised Trial of Rincell-1 in Adults With a Cochlear Implant
NCT06025097	EARLY_PHASE1	COMPLETED	Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus.
NCT06707389	EARLY_PHASE1	NOT_YET_RECRUITING	Autologous Blood Monocyte Vesicles for the Treatment of Sudden Deafness
NCT07472023	EARLY_PHASE1	ENROLLING_BY_INVITATION	Regenerative Medicine and Stem Cell-Based Interventions for Inner Ear Trauma, Tinnitus, and Sensorineural Hearing Loss
NCT00023036	Not specified	COMPLETED	Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
NCT00023049	Not specified	COMPLETED	Genetic Analysis of Hereditary Disorders of Hearing and Balance
NCT00261768	Not specified	COMPLETED	Efficacy of Digital Noise Reduction Strategies: A Hearing Aid Trial
NCT00589511	Not specified	COMPLETED	Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study
NCT00678899	Not specified	COMPLETED	Evaluation of the Nucleus Hybrid™ L24 Cochlear Implant System
NCT00787189	Not specified	COMPLETED	Study of Low Level Laser Therapy and Word Recognition in Hearing Impaired Individuals
NCT01184248	Not specified	COMPLETED	The Effect of Sound Stimulation on Pure-tone Hearing Threshold
NCT01434446	Not specified	COMPLETED	The Effect of Sound Stimulation on Hearing Ability
NCT01749592	Not specified	COMPLETED	Single-sided Deafness and Cochlear Implants