MCID: DPM001
MIFTS: 45

Dopamine Beta-Hydroxylase Deficiency

Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dopamine Beta-Hydroxylase Deficiency

MalaCards integrated aliases for Dopamine Beta-Hydroxylase Deficiency:

Name: Dopamine Beta-Hydroxylase Deficiency 12 25 26 38 13 15
Dopamine Beta Hydroxylase Deficiency 77 54 30 6 45 41
Norepinephrine Deficiency 12 54 26
Noradrenaline Deficiency 12 54 26
Dopamine Beta-Hydroxylase Deficiency, Congenital 54
Congenital Dopamine Beta-Hydroxylase Deficiency 12
Dopamine-Beta-Hydroxylase 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0090145
KEGG 38 H01005
MeSH 45 C535600
UMLS 74 C0342687

Summaries for Dopamine Beta-Hydroxylase Deficiency

NIH Rare Diseases : 54 Dopamine beta hydroxylase deficiency is a disease which affects the body�??s ability to regulate blood pressure and body temperature. Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing (orthostatic hypotension), and low blood sugar levels (hypoglycemia). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. Other symptoms may include drooping eyelids (ptosis), nasal congestion, muscle pain, and weakness. Dopamine beta hydroxylase deficiency is caused by mutation in the DBH gene and is inherited in an autosomal recessive manner. Diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. Treatment with a synthetic form of norepinephrine can reduce hypotension. 

MalaCards based summary : Dopamine Beta-Hydroxylase Deficiency, also known as dopamine beta hydroxylase deficiency, is related to pure autonomic failure and attention deficit-hyperactivity disorder, and has symptoms including nasal congestion (finding) An important gene associated with Dopamine Beta-Hydroxylase Deficiency is DBH (Dopamine Beta-Hydroxylase), and among its related pathways/superpathways are Tyrosine metabolism and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dopamine and Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and heart, and related phenotypes are Increased viability and cardiovascular system

Disease Ontology : 12 An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has material basis in homozygous or compound heterozygous mutation in the DBH gene on chromosome 9q34.

Genetics Home Reference : 26 Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).

Wikipedia : 77 Dopamine beta (β)-hydroxylase deficiency is a condition involving inadequate dopamine beta-hydroxylase.... more...

GeneReviews: NBK1474

Related Diseases for Dopamine Beta-Hydroxylase Deficiency

Diseases related to Dopamine Beta-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 30.5 DBH DDC
2 attention deficit-hyperactivity disorder 30.3 ADRA2C DBH SLC6A2
3 pheochromocytoma 29.5 DBH DDC SLC6A2
4 dopamine beta-hydroxylase, plasma, thermolability of 12.6
5 orthostatic hypotension 1 12.3
6 primary orthostatic hypotension 11.5
7 schizophrenia 10.6
8 pol iii-related leukodystrophies 10.6
9 dystonia 10.5
10 bowenoid papulosis 10.5
11 depression 10.5
12 alzheimer disease 10.4
13 tardive dyskinesia 10.4
14 conduct disorder 10.4
15 dysautonomia 10.2
16 alcohol dependence 10.2
17 gilles de la tourette syndrome 10.2
18 migraine with or without aura 1 10.2
19 parkinson disease, late-onset 10.2
20 neuropathy, hereditary sensory and autonomic, type iii 10.2
21 familial mediterranean fever 10.2
22 paranoid schizophrenia 10.2
23 post-traumatic stress disorder 10.2
24 vaccinia 10.2
25 hypertension, essential 10.1
26 multiple system atrophy 1 10.1
27 torticollis 10.1
28 autism 10.1
29 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.1
30 lesch-nyhan syndrome 10.1
31 menkes disease 10.1
32 myocardial infarction 10.1
33 major depressive disorder 10.1
34 hyperprolactinemia 10.1
35 cataract 10.1
36 congestive heart failure 10.1
37 diabetic neuropathy 10.1
38 spinal cord injury 10.1
39 congenital hypothyroidism 10.1
40 inflammatory bowel disease 10.1
41 cervical dystonia 10.1
42 migraine with aura 10.1
43 amnestic disorder 10.1
44 pathological gambling 10.1
45 quadriplegia 10.1
46 choreatic disease 10.1
47 dementia 10.1
48 hypothyroidism 10.1
49 endogenous depression 10.1
50 mitral valve stenosis 10.1

Graphical network of the top 20 diseases related to Dopamine Beta-Hydroxylase Deficiency:



Diseases related to Dopamine Beta-Hydroxylase Deficiency

Symptoms & Phenotypes for Dopamine Beta-Hydroxylase Deficiency

UMLS symptoms related to Dopamine Beta-Hydroxylase Deficiency:


nasal congestion (finding)

GenomeRNAi Phenotypes related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.1 ADRA2C DBH DDC PAX6 SLC6A2 WT1

MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ADRA2C DBH DDC PAX6 SLC6A2 WT1
2 behavior/neurological MP:0005386 9.77 ADRA2C DBH DDC PAX6 SLC6A2
3 homeostasis/metabolism MP:0005376 9.63 ADRA2C DBH DDC PAX6 SLC6A2 WT1
4 embryo MP:0005380 9.56 ADRA2C DDC PAX6 WT1
5 mortality/aging MP:0010768 9.43 ADRA2C DBH DDC PAX6 SLC6A2 WT1
6 nervous system MP:0003631 9.02 ADRA2C DBH DDC PAX6 SLC6A2

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency

Drugs for Dopamine Beta-Hydroxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
2
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 23651-95-8 443940
3 Antiparkinson Agents Phase 4,Phase 3,Phase 1,Phase 2
4
Methyldopa Approved Phase 3,Phase 1 555-30-6 38853
5
Metoclopramide Approved, Investigational Phase 3,Phase 1 364-62-5 4168
6
Carbidopa Approved Phase 3,Phase 1,Phase 2 28860-95-9 34359
7
Levodopa Approved Phase 3 59-92-7 6047
8
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
9 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
10 Sympathomimetics Phase 3,Phase 2,Phase 1,Not Applicable
11 Cardiotonic Agents Phase 3,Phase 2,Phase 1,Not Applicable
12 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
13 Dopamine Agents Phase 3,Phase 2,Phase 1,Not Applicable
14 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
15 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
16 Adrenergic Agents Phase 3,Phase 1,Phase 2
17 Dopamine Antagonists Phase 3,Phase 1
18 Dopamine D2 Receptor Antagonists Phase 3,Phase 1
19 Antiemetics Phase 3,Phase 1
20 Gastrointestinal Agents Phase 3,Phase 1
21 Adrenergic Agonists Phase 3,Phase 1,Phase 2
22 Adrenergic alpha-Agonists Phase 3,Phase 1,Phase 2
23 Sympatholytics Phase 3,Phase 1
24 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1
25 Antihypertensive Agents Phase 3,Phase 1
26 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
27 alpha-methyltyrosine Phase 3
28 Atomoxetine Hydrochloride Phase 3
29 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 1,Phase 2
30
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
31
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
32 Vasoconstrictor Agents Phase 1, Phase 2
33 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
34 Catechol Phase 1, Phase 2
35
Ephedrine Approved Phase 1 299-42-3 9294
36
Atropine Approved, Vet_approved Phase 1 5908-99-6, 51-55-8 174174
37
Cyclopentolate Approved Phase 1 512-15-2 2905
38
Nitric Oxide Approved Phase 1 10102-43-9 145068
39
Tropicamide Approved, Investigational Phase 1 1508-75-4 5593
40
Dipivefrin Approved Phase 1 52365-63-6 3105
41
Pseudoephedrine Approved Phase 1 90-82-4 7028
42
Clonidine Approved Phase 1 4205-90-7 2803
43
Phenylephrine Approved Phase 1 59-42-7 6041
44
Nitroprusside Approved, Investigational Phase 1 15078-28-1 11963622
45
Edrophonium Approved Phase 1 312-48-1, 116-38-1 3202
46
Propranolol Approved, Investigational Phase 1 525-66-6 4946
47
Oxymetazoline Approved, Investigational Phase 1 1491-59-4 4636
48
Isoproterenol Approved, Investigational Phase 1 7683-59-2 3779
49
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
50 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
2 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
3 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
4 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
5 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
6 Treatment of Orthostatic Hypotension Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
7 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
8 Nepicastat for Posttraumatic Stress Disorder (PTSD) in OIF/OEF Veterans Completed NCT00659230 Phase 2 Nepicastat;Placebo
9 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
10 The Pathophysiology of Orthostatic Hypotension Active, not recruiting NCT00748059 Phase 1 phenylephrine,isoproterenol,nitroprusside,propranolol,edrophonium,atropine,tyramine;clonidine,yohimbine,metoclopramide,alpha-methyldopa
11 A Study to Investigate the Genetic Variation of Dopamine Pathway in Patients With Chronic Pain Completed NCT02989792 Not Applicable

Search NIH Clinical Center for Dopamine Beta-Hydroxylase Deficiency

Cochrane evidence based reviews: dopamine beta hydroxylase deficiency

Genetic Tests for Dopamine Beta-Hydroxylase Deficiency

Genetic tests related to Dopamine Beta-Hydroxylase Deficiency:

# Genetic test Affiliating Genes
1 Dopamine Beta Hydroxylase Deficiency 30 DBH

Anatomical Context for Dopamine Beta-Hydroxylase Deficiency

MalaCards organs/tissues related to Dopamine Beta-Hydroxylase Deficiency:

42
Eye, Testes, Heart, Skin, Spinal Cord

Publications for Dopamine Beta-Hydroxylase Deficiency

Articles related to Dopamine Beta-Hydroxylase Deficiency:

(show all 29)
# Title Authors Year
1
Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. ( 27778639 )
2017
2
Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency. ( 27237083 )
2016
3
Neurocognitive function in dopamine-β-hydroxylase deficiency. ( 21471955 )
2011
4
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. ( 20186791 )
2010
5
Dopamine beta-hydroxylase deficiency. ( 16722595 )
2006
6
Dopamine beta-hydroxylase deficiency involves the central autonomic network. ( 16830134 )
2006
7
Congenital dopamine-beta-hydroxylase deficiency in humans. ( 15240410 )
2004
8
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. ( 15495941 )
2004
9
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. ( 14598346 )
2003
10
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. ( 12180590 )
2002
11
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. ( 11857564 )
2002
12
Dopamine beta-hydroxylase deficiency impairs cellular immunity. ( 10051631 )
1999
13
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. ( 9327848 )
1998
14
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. ( 9651662 )
1998
15
Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. ( 8801271 )
1995
16
Dopamine beta-hydroxylase immunoreactivity in human cerebrospinal fluid: properties, relationship to central noradrenergic neuronal activity and variation in Parkinson's disease and congenital dopamine beta-hydroxylase deficiency. ( 8143425 )
1994
17
Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. ( 1677640 )
1991
18
Sleeping with and without norepinephrine: effects of metoclopramide and D,L-threo-3,4-dihydroxyphenylserine on sleep in dopamine beta-hydroxylase deficiency. ( 1811317 )
1991
19
D,L-threo-3, 4-DOPS enhances rapid eye movement sleep in patients with congenital dopamine beta-hydroxylase deficiency. ( 2155257 )
1990
20
Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency. ( 2295511 )
1990
21
Dopamine-beta-hydroxylase deficiency in humans. ( 2300263 )
1990
22
Sleep patterns in congenital dopamine beta-hydroxylase deficiency. ( 2355243 )
1990
23
d,l-threo-3,4-dihydroxyphenylserine restores sympathetic control and cures orthostatic hypotension in dopamine beta-hydroxylase deficiency. ( 3149290 )
1988
24
Patients with congenital dopamine beta-hydroxylase deficiency. A lesson in catecholamine physiology. ( 3291893 )
1988
25
Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. ( 2880016 )
1987
26
Congenital dopamine beta-hydroxylase deficiency. ( 2882120 )
1987
27
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. ( 2890806 )
1987
28
Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency. ( 2890807 )
1987
29
Dopamine in dopamine-beta-hydroxylase deficiency. ( 3683474 )
1987

Variations for Dopamine Beta-Hydroxylase Deficiency

ClinVar genetic disease variations for Dopamine Beta-Hydroxylase Deficiency:

6 (show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 DBH NM_000787.3(DBH): c.339+2T> C single nucleotide variant Pathogenic rs74853476 GRCh37 Chromosome 9, 136501834: 136501834
2 DBH NM_000787.3(DBH): c.339+2T> C single nucleotide variant Pathogenic rs74853476 GRCh38 Chromosome 9, 133636712: 133636712
3 DBH NM_000787.3(DBH): c.342C> A (p.Asp114Glu) single nucleotide variant Pathogenic rs77576840 GRCh37 Chromosome 9, 136504970: 136504970
4 DBH NM_000787.3(DBH): c.342C> A (p.Asp114Glu) single nucleotide variant Pathogenic rs77576840 GRCh38 Chromosome 9, 133639848: 133639848
5 DBH NM_000787.3(DBH): c.301G> A (p.Val101Met) single nucleotide variant Pathogenic rs267606760 GRCh37 Chromosome 9, 136501794: 136501794
6 DBH NM_000787.3(DBH): c.301G> A (p.Val101Met) single nucleotide variant Pathogenic rs267606760 GRCh38 Chromosome 9, 133636672: 133636672
7 DBH NM_000787.3(DBH): c.1033G> A (p.Asp345Asn) single nucleotide variant Pathogenic rs267606761 GRCh37 Chromosome 9, 136512976: 136512976
8 DBH NM_000787.3(DBH): c.1033G> A (p.Asp345Asn) single nucleotide variant Pathogenic rs267606761 GRCh38 Chromosome 9, 133647854: 133647854
9 DBH NG_008645.1: g.386_387(11_15) NT expansion Benign rs72191426 GRCh37 Chromosome 9, 136496870: 136496871
10 DBH NG_008645.1: g.386_387(11_15) NT expansion Benign rs72191426 GRCh38 Chromosome 9, 133631748: 133631749
11 DBH NM_000787.3(DBH): c.-979T> C single nucleotide variant Benign rs1611115 GRCh37 Chromosome 9, 136500515: 136500515
12 DBH NM_000787.3(DBH): c.-979T> C single nucleotide variant Benign rs1611115 GRCh38 Chromosome 9, 133635393: 133635393
13 DBH NM_000787.3(DBH): c.486A> G (p.Glu162=) single nucleotide variant Benign rs1108580 GRCh38 Chromosome 9, 133639992: 133639992
14 DBH NM_000787.3(DBH): c.486A> G (p.Glu162=) single nucleotide variant Benign rs1108580 GRCh37 Chromosome 9, 136505114: 136505114
15 DBH NM_000787.3(DBH): c.617delA (p.Glu206Glyfs) deletion Pathogenic rs863225244 GRCh37 Chromosome 9, 136507459: 136507459
16 DBH NM_000787.3(DBH): c.617delA (p.Glu206Glyfs) deletion Pathogenic rs863225244 GRCh38 Chromosome 9, 133642337: 133642337
17 DBH NM_000787.3(DBH): c.806G> T (p.Cys269Phe) single nucleotide variant Pathogenic rs863225245 GRCh37 Chromosome 9, 136508596: 136508596
18 DBH NM_000787.3(DBH): c.806G> T (p.Cys269Phe) single nucleotide variant Pathogenic rs863225245 GRCh38 Chromosome 9, 133643474: 133643474
19 DBH NM_000787.3(DBH): c.1085C> A (p.Ala362Glu) single nucleotide variant Pathogenic rs75215331 GRCh37 Chromosome 9, 136513028: 136513028
20 DBH NM_000787.3(DBH): c.1085C> A (p.Ala362Glu) single nucleotide variant Pathogenic rs75215331 GRCh38 Chromosome 9, 133647906: 133647906
21 DBH NM_000787.3(DBH): c.1667A> G (p.Tyr556Cys) single nucleotide variant Pathogenic rs863225246 GRCh38 Chromosome 9, 133657174: 133657174
22 DBH NM_000787.3(DBH): c.1667A> G (p.Tyr556Cys) single nucleotide variant Pathogenic rs863225246 GRCh37 Chromosome 9, 136522296: 136522296
23 DBH 19-bp insertion/deletion indel Benign
24 DBH MspI polymorphic site in intron 9 undetermined variant Benign
25 DBH NM_000787.3(DBH): c.602A> G (p.Asn201Ser) single nucleotide variant Likely benign rs45465204 GRCh38 Chromosome 9, 133642322: 133642322
26 DBH NM_000787.3(DBH): c.602A> G (p.Asn201Ser) single nucleotide variant Likely benign rs45465204 GRCh37 Chromosome 9, 136507444: 136507444
27 DBH NM_000787.3(DBH): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance rs886063657 GRCh38 Chromosome 9, 133639913: 133639913
28 DBH NM_000787.3(DBH): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance rs886063657 GRCh37 Chromosome 9, 136505035: 136505035
29 DBH NM_000787.3(DBH): c.486+13C> T single nucleotide variant Likely benign rs1611119 GRCh38 Chromosome 9, 133640005: 133640005
30 DBH NM_000787.3(DBH): c.486+13C> T single nucleotide variant Likely benign rs1611119 GRCh37 Chromosome 9, 136505127: 136505127
31 DBH NM_000787.3(DBH): c.631G> A (p.Ala211Thr) single nucleotide variant Likely benign rs5320 GRCh38 Chromosome 9, 133642351: 133642351
32 DBH NM_000787.3(DBH): c.631G> A (p.Ala211Thr) single nucleotide variant Likely benign rs5320 GRCh37 Chromosome 9, 136507473: 136507473
33 DBH NM_000787.3(DBH): c.735C> T (p.His245=) single nucleotide variant Likely benign rs5322 GRCh38 Chromosome 9, 133642455: 133642455
34 DBH NM_000787.3(DBH): c.735C> T (p.His245=) single nucleotide variant Likely benign rs5322 GRCh37 Chromosome 9, 136507577: 136507577
35 DBH NM_000787.3(DBH): c.852C> T (p.Asp284=) single nucleotide variant Uncertain significance rs886063658 GRCh37 Chromosome 9, 136508642: 136508642
36 DBH NM_000787.3(DBH): c.852C> T (p.Asp284=) single nucleotide variant Uncertain significance rs886063658 GRCh38 Chromosome 9, 133643520: 133643520
37 DBH NM_000787.3(DBH): c.1094T> C (p.Met365Thr) single nucleotide variant Uncertain significance rs200103371 GRCh37 Chromosome 9, 136513037: 136513037
38 DBH NM_000787.3(DBH): c.1094T> C (p.Met365Thr) single nucleotide variant Uncertain significance rs200103371 GRCh38 Chromosome 9, 133647915: 133647915
39 DBH NM_000787.3(DBH): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs77984399 GRCh37 Chromosome 9, 136513082: 136513082
40 DBH NM_000787.3(DBH): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs77984399 GRCh38 Chromosome 9, 133647960: 133647960
41 DBH NM_000787.3(DBH): c.1173G> A (p.Thr391=) single nucleotide variant Uncertain significance rs201689325 GRCh37 Chromosome 9, 136513116: 136513116
42 DBH NM_000787.3(DBH): c.1173G> A (p.Thr391=) single nucleotide variant Uncertain significance rs201689325 GRCh38 Chromosome 9, 133647994: 133647994
43 DBH NM_000787.3(DBH): c.1572C> T (p.Asn524=) single nucleotide variant Uncertain significance rs200509113 GRCh38 Chromosome 9, 133657079: 133657079
44 DBH NM_000787.3(DBH): c.1572C> T (p.Asn524=) single nucleotide variant Uncertain significance rs200509113 GRCh37 Chromosome 9, 136522201: 136522201
45 DBH NM_000787.3(DBH): c.1722+4C> T single nucleotide variant Uncertain significance rs45532436 GRCh38 Chromosome 9, 133657233: 133657233
46 DBH NM_000787.3(DBH): c.1722+4C> T single nucleotide variant Uncertain significance rs45532436 GRCh37 Chromosome 9, 136522355: 136522355
47 DBH NM_000787.3(DBH): c.1734C> T (p.Asn578=) single nucleotide variant Conflicting interpretations of pathogenicity rs45446891 GRCh38 Chromosome 9, 133658327: 133658327
48 DBH NM_000787.3(DBH): c.1734C> T (p.Asn578=) single nucleotide variant Conflicting interpretations of pathogenicity rs45446891 GRCh37 Chromosome 9, 136523449: 136523449
49 DBH NM_000787.3(DBH): c.*431C> T single nucleotide variant Uncertain significance rs551208345 GRCh37 Chromosome 9, 136524000: 136524000
50 DBH NM_000787.3(DBH): c.*431C> T single nucleotide variant Uncertain significance rs551208345 GRCh38 Chromosome 9, 133658878: 133658878

Expression for Dopamine Beta-Hydroxylase Deficiency

Search GEO for disease gene expression data for Dopamine Beta-Hydroxylase Deficiency.

Pathways for Dopamine Beta-Hydroxylase Deficiency

Pathways related to Dopamine Beta-Hydroxylase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350

GO Terms for Dopamine Beta-Hydroxylase Deficiency

Biological processes related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.32 DBH PAX6
2 camera-type eye development GO:0043010 9.26 PAX6 WT1
3 positive regulation of vasoconstriction GO:0045907 9.16 ADRA2C DBH
4 response to pain GO:0048265 8.96 DBH SLC6A2
5 catecholamine biosynthetic process GO:0042423 8.62 DBH DDC

Sources for Dopamine Beta-Hydroxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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