MCID: DPM001
MIFTS: 54

Dopamine Beta-Hydroxylase Deficiency

Categories: 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 43 36 15
Dopamine Beta Hydroxylase Deficiency 73 20 6 44 39
Norepinephrine Deficiency 12 20 43
Noradrenaline Deficiency 12 20 43
Dopamine Beta-Hydroxylase Deficiency, Congenital 20
Congenital Dopamine Beta-Hydroxylase Deficiency 12
Dopamine Β-Hydroxylase 43

Classifications:



Summaries for Dopamine Beta-Hydroxylase Deficiency

MedlinePlus Genetics : 43 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).Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.Other features of dopamine β-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.

MalaCards based summary : Dopamine Beta-Hydroxylase Deficiency, also known as dopamine beta hydroxylase deficiency, is related to orthostatic hypotension 1 and pure autonomic failure. An important gene associated with Dopamine Beta-Hydroxylase Deficiency is DBH (Dopamine Beta-Hydroxylase), and among its related pathways/superpathways are Tyrosine metabolism and Neuroscience. The drugs Dopamine and Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are orthostatic hypotension and rhinitis

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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.

GARD : 20 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.

KEGG : 36 Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.

Wikipedia : 73 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 78)
# Related Disease Score Top Affiliating Genes
1 orthostatic hypotension 1 33.3 DBH-AS1 DBH
2 pure autonomic failure 31.1 TH SNCA DDC DBH
3 cocaine abuse 30.5 SNCA SLC6A2 DBH
4 autonomic dysfunction 30.5 SNCA DBH
5 alcohol dependence 30.2 TH SNCA SLC6A2 DBH
6 attention deficit-hyperactivity disorder 30.1 TH SNCA SLC6A2 PNMT DDC DBH
7 multiple system atrophy 1 30.0 TH SNCA DBH
8 menkes disease 29.7 DBH ATP7A ATOX1
9 wilson disease 29.7 DBH ATP7A ATOX1
10 pheochromocytoma 29.6 TH SLC6A2 PNMT GATA3 DDC DBH
11 neuroblastoma 29.4 TH SNCA SLC6A2 DUSP26 DBH-AS1 DBH
12 primary orthostatic hypotension 11.3
13 ptosis 10.4
14 hypoglycemia 10.4
15 cocaine dependence 10.4
16 pax6-related aniridia 10.4 WT1 PAX6
17 schizophrenia 10.3
18 hereditary wilms' tumor 10.3 WT1 PAX6
19 hereditary dystonia 10.3 TH DBH
20 amphetamine abuse 10.3 TH SLC6A2
21 parkinson disease 4, autosomal dominant 10.3 TH SNCA
22 isolated aniridia 10.3 WT1 PAX6
23 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 TH DDC
24 bladder diverticulum 10.2 DBH ATP7A
25 dysautonomia 10.2
26 hypotonia 10.2
27 postencephalitic parkinson disease 10.2 TH SNCA DDC
28 aromatic l-amino acid decarboxylase deficiency 10.2 TH PNMT DDC
29 tardive dyskinesia 10.1
30 adrenal gland pheochromocytoma 10.1
31 post-traumatic stress disorder 10.1
32 acute stress disorder 10.1
33 gilles de la tourette syndrome 10.1 TH SLC6A2 DBH
34 malignant pheochromocytoma 10.1 TH SLC6A2 PNMT
35 cervical serous adenocarcinoma 10.1 WT1 GATA3
36 microinvasive cervical squamous cell carcinoma 10.1 WT1 GATA3
37 adrenal medulla cancer 10.1 SLC6A2 PNMT
38 wolffian duct adenocarcinoma 10.1 WT1 GATA3
39 von hippel-lindau syndrome 10.1 TH SLC6A2 PNMT
40 liver leiomyosarcoma 10.1 WT1 GATA3
41 hypertension, essential 10.1
42 parkinson disease, late-onset 10.1
43 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1
44 orthostatic intolerance 10.1
45 autosomal recessive disease 10.1
46 parkinsonism 10.1
47 renal hypertension 10.1
48 placenta praevia 10.1
49 sensory peripheral neuropathy 10.1
50 kidney disease 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

Human phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 orthostatic hypotension 31 hallmark (90%) HP:0001278
2 rhinitis 31 hallmark (90%) HP:0012384
3 bilateral ptosis 31 hallmark (90%) HP:0001488
4 elevated urinary dopamine 31 hallmark (90%) HP:0011979
5 sleep disturbance 31 frequent (33%) HP:0002360
6 fatigue 31 frequent (33%) HP:0012378
7 hypoglycemia 31 frequent (33%) HP:0001943
8 anemia 31 frequent (33%) HP:0001903
9 reduced tendon reflexes 31 frequent (33%) HP:0001315
10 exercise-induced muscle fatigue 31 frequent (33%) HP:0009020
11 elevated serum creatinine 31 frequent (33%) HP:0003259
12 increased blood urea nitrogen 31 frequent (33%) HP:0003138
13 retrograde ejaculation 31 frequent (33%) HP:0012877
14 hypothermia 31 occasional (7.5%) HP:0002045
15 dehydration 31 occasional (7.5%) HP:0001944
16 vomiting 31 occasional (7.5%) HP:0002013
17 dyspnea 31 occasional (7.5%) HP:0002094
18 vertigo 31 occasional (7.5%) HP:0002321
19 chest pain 31 occasional (7.5%) HP:0100749
20 diarrhea 31 occasional (7.5%) HP:0002014
21 blurred vision 31 occasional (7.5%) HP:0000622
22 abnormal ekg 31 occasional (7.5%) HP:0003115
23 nocturia 31 occasional (7.5%) HP:0000017
24 orthostatic syncope 31 occasional (7.5%) HP:0012670
25 hypotonia 31 occasional (7.5%) HP:0001252
26 hyperinsulinemia 31 very rare (1%) HP:0000842
27 insulin resistance 31 very rare (1%) HP:0000855

MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 ATOX1 ATP7A CYB561 DBH DDC DUSP26
2 growth/size/body region MP:0005378 10.3 ATOX1 ATP7A CYB561 DBH DDC DUSP26
3 behavior/neurological MP:0005386 10.29 ATOX1 ATP7A CYB561 DBH DDC NR2F6
4 cardiovascular system MP:0005385 10.27 ATOX1 ATP7A CYB561 DBH DDC GATA3
5 nervous system MP:0003631 10.15 ATOX1 ATP7A DBH DDC GATA3 NR2F6
6 integument MP:0010771 10.14 ATOX1 ATP7A CYB561 DBH GATA3 NR2F6
7 craniofacial MP:0005382 10.02 ATP7A CYB561 DDC GATA3 PAX6 RAI1
8 normal MP:0002873 9.97 ATP7A DBH GATA3 PAX6 PNMT RAI1
9 renal/urinary system MP:0005367 9.76 ATP7A DDC GATA3 PAX6 SNCA TH
10 pigmentation MP:0001186 9.65 ATOX1 ATP7A CYB561 GATA3 PAX6
11 respiratory system MP:0005388 9.5 ATOX1 ATP7A PAX6 RAI1 TH TRPS1
12 skeleton MP:0005390 9.32 ATP7A CYB561 DBH DDC GATA3 NR2F6

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
2
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940
3
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
4
Carbidopa Approved Phase 1, Phase 2 28860-95-9 34359
5
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
6 Antiparkinson Agents Phase 1, Phase 2
7 Neurotransmitter Agents Phase 1, Phase 2
8 Dopamine Agents Phase 1, Phase 2
9 Catechol Phase 1, Phase 2
10 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1, Phase 2
11 Adrenergic Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Study, to Assess the Long-term Safety and Clinical Benefit of Droxidopa in Subjects With PAF, Dopamine Beta Hydroxylase Deficiency or Non-diabetic Neuropathy and Symptomatic Neurogenic Orthostatic Hypotension Completed NCT00738062 Phase 3 Droxidopa;Placebo
2 A Multi-center, Open-label Study to Assess the Long-term Safety of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic Neurogenic Orthostatic Hypotension Completed NCT01132326 Phase 3 Droxidopa
3 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00782340 Phase 3 Placebo;Droxidopa
4 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00633880 Phase 3 Placebo;Droxidopa
5 L-Dihydroxyphenylserine (L-DOPS) for Norepinephrine Deficiency: Interactions With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone

Search NIH Clinical Center for Dopamine Beta-Hydroxylase Deficiency

Cochrane evidence based reviews: dopamine beta hydroxylase deficiency

Genetic Tests for Dopamine Beta-Hydroxylase Deficiency

Anatomical Context for Dopamine Beta-Hydroxylase Deficiency

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

40
Eye, Heart, Kidney, Liver, Adrenal Gland, Breast, Placenta

Publications for Dopamine Beta-Hydroxylase Deficiency

Articles related to Dopamine Beta-Hydroxylase Deficiency:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. 25 6
27778639 2017
2
Neurocognitive function in dopamine-β-hydroxylase deficiency. 6 25
21471955 2011
3
Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. 25 6
21209083 2011
4
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. 6 25
15060114 2004
5
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 6 25
11857564 2002
6
DBH deficiency in an elderly patient: efficacy and safety of chronic droxidopa. 25 61
20063034 2010
7
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. 25 61
20186791 2010
8
Dopamine beta-hydroxylase deficiency involves the central autonomic network. 25 61
16830134 2006
9
Congenital dopamine-beta-hydroxylase deficiency in humans. 25 61
15240410 2004
10
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. 6
14598346 2003
11
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. 25 61
12180590 2002
12
d,l-threo-3,4-dihydroxyphenylserine restores sympathetic control and cures orthostatic hypotension in dopamine beta-hydroxylase deficiency. 25 61
3149290 1988
13
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. 61 25
2890806 1987
14
Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. 61 25
2880016 1987
15
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. 25
29343526 2018
16
Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions. 25
27858193 2017
17
Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency. 25
27237083 2016
18
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. 25
26410747 2015
19
Pediatric ptosis as a sign of treatable autonomic dysfunction. 25
23622564 2013
20
A cross-sectional study contrasting olfactory function in autonomic disorders. 25
21282592 2011
21
Renal impairment of pure autonomic failure. 25
19738158 2009
22
Plasma catechols in familial dysautonomia: a long-term follow-up study. 25
18357519 2008
23
Prevalence and severity of renal disease in familial dysautonomia. 25
17059997 2006
24
Case report: Marathon runner with severe autonomic failure. 25
16360730 2005
25
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. 25
12891654 2003
26
The broader view: catecholamine abnormalities. 25
12102462 2002
27
A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. 25
11170900 2001
28
A study of the relationship between the DBH activity in serum and a MspI polymorphic site in intron 9 of the human DBH gene in schizophrenia. 25
8908693 1996
29
Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine. 25
3010116 1986
30
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency. 61
33034372 2020
31
Droxidopa for Hypotension of Different Etiologies: Two Case Reports. 61
30828233 2019
32
Droxidopa for Symptomatic Neurogenic Hypotension. 61
28604565 2017
33
The pathophysiology and diagnosis of orthostatic hypotension. 61
18368300 2008
34
L-dihydroxyphenylserine (Droxidopa) in the treatment of orthostatic hypotension: the European experience. 61
18368304 2008
35
Pupil abnormalities in selected autonomic neuropathies. 61
16966943 2006
36
Dopamine beta-hydroxylase deficiency. 61
16722595 2006
37
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. 61
15495941 2004
38
Dopamine Beta-Hydroxylase Deficiency 61
20301647 2003
39
Genomic organization of ATOX1, a human copper chaperone. 61
12594858 2003
40
Dopamine beta-hydroxylase deficiency impairs cellular immunity. 61
10051631 1999
41
Bilateral Horner's syndrome: detection and occurrence. 61
9886450 1999
42
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. 61
9651662 1998
43
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. 61
9327848 1998
44
[Pharmacologic approach to autonomic failure]. 61
9773098 1998
45
The role of clinical pharmacology in molecular genetics. 61
9112133 1997
46
Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. 61
8801271 1995
47
Genetic determinants of dopaminergic activity: potential role in blood pressure regulation. 61
8529034 1995
48
Abnormal cardiovascular and catecholamine responses to supine exercise in human subjects with sympathetic dysfunction. 61
7602525 1995
49
The sympathetic nervous system and the physiologic consequences of spaceflight: a hypothesis. 61
8042655 1994
50
Heart rate spectral analysis, cardiac norepinephrine spillover, and muscle sympathetic nerve activity during human sympathetic nervous activation and failure. 61
8026003 1994

Variations for Dopamine Beta-Hydroxylase Deficiency

ClinVar genetic disease variations for Dopamine Beta-Hydroxylase Deficiency:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DBH NM_000787.4(DBH):c.617del (p.Glu206fs) Deletion Pathogenic 217762 rs863225244 GRCh37: 9:136507459-136507459
GRCh38: 9:133642337-133642337
2 DBH NM_000787.4(DBH):c.468dup (p.Lys157fs) Duplication Pathogenic 846731 GRCh37: 9:136505092-136505093
GRCh38: 9:133639970-133639971
3 DBH NM_000787.4(DBH):c.1804C>T (p.Arg602Ter) SNV Pathogenic 449010 rs775827929 GRCh37: 9:136523519-136523519
GRCh38: 9:133658397-133658397
4 DBH NM_000787.4(DBH):c.339+2T>C SNV Pathogenic 1750 rs74853476 GRCh37: 9:136501834-136501834
GRCh38: 9:133636712-133636712
5 DBH NM_000787.4(DBH):c.715A>T (p.Lys239Ter) SNV Pathogenic 1028376 GRCh37: 9:136507557-136507557
GRCh38: 9:133642435-133642435
6 DBH NM_000787.4(DBH):c.342C>A (p.Asp114Glu) SNV Pathogenic 1751 rs77576840 GRCh37: 9:136504970-136504970
GRCh38: 9:133639848-133639848
7 DBH NM_000787.4(DBH):c.301G>A (p.Val101Met) SNV Pathogenic 1752 rs267606760 GRCh37: 9:136501794-136501794
GRCh38: 9:133636672-133636672
8 DBH NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) SNV Pathogenic 217764 rs267606761 GRCh37: 9:136512976-136512976
GRCh38: 9:133647854-133647854
9 DBH NM_000787.4(DBH):c.301G>A (p.Val101Met) SNV Pathogenic 217761 rs267606760 GRCh37: 9:136501794-136501794
GRCh38: 9:133636672-133636672
10 DBH NM_000787.4(DBH):c.1085C>A (p.Ala362Glu) SNV Pathogenic 217765 rs75215331 GRCh37: 9:136513028-136513028
GRCh38: 9:133647906-133647906
11 DBH NM_000787.4(DBH):c.806G>T (p.Cys269Phe) SNV Pathogenic 217763 rs863225245 GRCh37: 9:136508596-136508596
GRCh38: 9:133643474-133643474
12 DBH-AS1 , DBH NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys) SNV Pathogenic 217766 rs863225246 GRCh37: 9:136522296-136522296
GRCh38: 9:133657174-133657174
13 DBH NM_000787.4(DBH):c.291C>T (p.Asn97=) SNV Conflicting interpretations of pathogenicity 750427 rs75734048 GRCh37: 9:136501784-136501784
GRCh38: 9:133636662-133636662
14 DBH NM_000787.4(DBH):c.1215C>T (p.His405=) SNV Conflicting interpretations of pathogenicity 784656 rs144219953 GRCh37: 9:136516779-136516779
GRCh38: 9:133651657-133651657
15 DBH NM_000787.4(DBH):c.354C>T (p.Asp118=) SNV Conflicting interpretations of pathogenicity 714636 rs199898782 GRCh37: 9:136504982-136504982
GRCh38: 9:133639860-133639860
16 DBH NM_000787.4(DBH):c.807C>T (p.Cys269=) SNV Conflicting interpretations of pathogenicity 365647 rs141816448 GRCh37: 9:136508597-136508597
GRCh38: 9:133643475-133643475
17 DBH NM_000787.4(DBH):c.1094T>C (p.Met365Thr) SNV Conflicting interpretations of pathogenicity 365657 rs200103371 GRCh37: 9:136513037-136513037
GRCh38: 9:133647915-133647915
18 DBH NM_000787.4(DBH):c.1025-6T>A SNV Conflicting interpretations of pathogenicity 365655 rs199926239 GRCh37: 9:136512962-136512962
GRCh38: 9:133647840-133647840
19 DBH-AS1 , DBH NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) SNV Conflicting interpretations of pathogenicity 529773 rs41316996 GRCh37: 9:136521654-136521654
GRCh38: 9:133656532-133656532
20 DBH NM_000787.4(DBH):c.1772A>T (p.Glu591Val) SNV Conflicting interpretations of pathogenicity 859268 GRCh37: 9:136523487-136523487
GRCh38: 9:133658365-133658365
21 DBH NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) SNV Uncertain significance 445788 rs200798319 GRCh37: 9:136516762-136516762
GRCh38: 9:133651640-133651640
22 DBH NM_000787.4(DBH):c.983T>G (p.Leu328Arg) SNV Uncertain significance 912320 GRCh37: 9:136509401-136509401
GRCh38: 9:133644279-133644279
23 DBH NM_000787.4(DBH):c.1001A>T (p.Tyr334Phe) SNV Uncertain significance 912321 GRCh37: 9:136509419-136509419
GRCh38: 9:133644297-133644297
24 DBH-AS1 , DBH NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) SNV Uncertain significance 912367 GRCh37: 9:136522272-136522272
GRCh38: 9:133657150-133657150
25 DBH-AS1 , DBH NM_000787.4(DBH):c.1688T>C (p.Met563Thr) SNV Uncertain significance 912368 GRCh37: 9:136522317-136522317
GRCh38: 9:133657195-133657195
26 DBH-AS1 , DBH NM_000787.4(DBH):c.1722+13G>T SNV Uncertain significance 912369 GRCh37: 9:136522364-136522364
GRCh38: 9:133657242-133657242
27 DBH NM_000787.4(DBH):c.*320G>A SNV Uncertain significance 912422 GRCh37: 9:136523889-136523889
GRCh38: 9:133658767-133658767
28 DBH NM_000787.4(DBH):c.*393C>T SNV Uncertain significance 912423 GRCh37: 9:136523962-136523962
GRCh38: 9:133658840-133658840
29 DBH NM_000787.4(DBH):c.*315G>A SNV Uncertain significance 365684 rs886063662 GRCh37: 9:136523884-136523884
GRCh38: 9:133658762-133658762
30 DBH NM_000787.4(DBH):c.486+15C>T SNV Uncertain significance 365638 rs749887039 GRCh37: 9:136505129-136505129
GRCh38: 9:133640007-133640007
31 DBH NM_000787.4(DBH):c.*846G>A SNV Uncertain significance 365695 rs886063668 GRCh37: 9:136524415-136524415
GRCh38: 9:133659293-133659293
32 DBH NM_000787.4(DBH):c.*222C>T SNV Uncertain significance 365681 rs561913284 GRCh37: 9:136523791-136523791
GRCh38: 9:133658669-133658669
33 DBH NM_000787.4(DBH):c.*415C>T SNV Uncertain significance 365690 rs533447101 GRCh37: 9:136523984-136523984
GRCh38: 9:133658862-133658862
34 DBH NM_000787.4(DBH):c.1825G>A (p.Val609Ile) SNV Uncertain significance 365675 rs141570582 GRCh37: 9:136523540-136523540
GRCh38: 9:133658418-133658418
35 DBH NM_000787.4(DBH):c.*459A>G SNV Uncertain significance 365692 rs886063666 GRCh37: 9:136524028-136524028
GRCh38: 9:133658906-133658906
36 DBH NM_000787.4(DBH):c.*213A>C SNV Uncertain significance 365680 rs578112069 GRCh37: 9:136523782-136523782
GRCh38: 9:133658660-133658660
37 DBH NM_000787.4(DBH):c.*283A>C SNV Uncertain significance 365683 rs886063661 GRCh37: 9:136523852-136523852
GRCh38: 9:133658730-133658730
38 DBH NM_000787.4(DBH):c.*383C>T SNV Uncertain significance 365686 rs886063663 GRCh37: 9:136523952-136523952
GRCh38: 9:133658830-133658830
39 DBH NM_000787.4(DBH):c.*401C>T SNV Uncertain significance 365689 rs886063665 GRCh37: 9:136523970-136523970
GRCh38: 9:133658848-133658848
40 DBH-AS1 , DBH NM_000787.4(DBH):c.1493C>T (p.Thr498Met) SNV Uncertain significance 365663 rs78512658 GRCh37: 9:136521703-136521703
GRCh38: 9:133656581-133656581
41 DBH NM_000787.4(DBH):c.776C>T (p.Ala259Val) SNV Uncertain significance 365646 rs201600007 GRCh37: 9:136508566-136508566
GRCh38: 9:133643444-133643444
42 DBH NM_000787.4(DBH):c.852C>T (p.Asp284=) SNV Uncertain significance 365649 rs886063658 GRCh37: 9:136508642-136508642
GRCh38: 9:133643520-133643520
43 DBH-AS1 , DBH NM_000787.4(DBH):c.1557C>T (p.Ile519=) SNV Uncertain significance 365666 rs764026303 GRCh37: 9:136521767-136521767
GRCh38: 9:133656645-133656645
44 DBH NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) SNV Uncertain significance 365677 rs76316834 GRCh37: 9:136523555-136523555
GRCh38: 9:133658433-133658433
45 DBH NM_000787.4(DBH):c.686C>A (p.Thr229Lys) SNV Uncertain significance 365642 rs200628504 GRCh37: 9:136507528-136507528
GRCh38: 9:133642406-133642406
46 DBH-AS1 , DBH NM_000787.4(DBH):c.1451T>C (p.Leu484Pro) SNV Uncertain significance 365662 rs769107895 GRCh37: 9:136521661-136521661
GRCh38: 9:133656539-133656539
47 DBH-AS1 , DBH NM_000787.4(DBH):c.1556T>C (p.Ile519Thr) SNV Uncertain significance 365665 rs537856898 GRCh37: 9:136521766-136521766
GRCh38: 9:133656644-133656644
48 DBH NM_000787.4(DBH):c.1788C>T (p.Cys596=) SNV Uncertain significance 365674 rs61729385 GRCh37: 9:136523503-136523503
GRCh38: 9:133658381-133658381
49 DBH NM_000787.4(DBH):c.259T>C (p.Phe87Leu) SNV Uncertain significance 365633 rs761327487 GRCh37: 9:136501752-136501752
GRCh38: 9:133636630-133636630
50 DBH NM_000787.4(DBH):c.*431C>T SNV Uncertain significance 365691 rs551208345 GRCh37: 9:136524000-136524000
GRCh38: 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:

36
# 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:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.98 WT1 TRPS1 SNCA PAX6 NR2F6 GATA3
2 response to drug GO:0042493 9.89 TH SNCA SLC6A2 GATA3
3 locomotory behavior GO:0007626 9.71 TH DBH ATP7A
4 cell fate determination GO:0001709 9.62 PAX6 GATA3
5 response to pain GO:0048265 9.62 SLC6A2 DBH
6 eye photoreceptor cell development GO:0042462 9.61 TH PAX6
7 dopamine metabolic process GO:0042417 9.61 SNCA ATP7A
8 multicellular organism aging GO:0010259 9.6 TH DDC
9 copper ion transport GO:0006825 9.58 ATP7A ATOX1
10 embryonic camera-type eye morphogenesis GO:0048596 9.58 TH PAX6
11 cellular copper ion homeostasis GO:0006878 9.57 ATP7A ATOX1
12 catecholamine metabolic process GO:0006584 9.56 DDC ATP7A
13 synaptic transmission, dopaminergic GO:0001963 9.55 TH SNCA
14 cellular response to alkaloid GO:0071312 9.52 TH DDC
15 mesenchymal to epithelial transition GO:0060231 9.51 WT1 GATA3
16 dopamine uptake involved in synaptic transmission GO:0051583 9.49 SNCA SLC6A2
17 response to pyrethroid GO:0046684 9.48 TH DDC
18 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.46 TH DDC
19 copper ion export GO:0060003 9.4 ATP7A ATOX1
20 isoquinoline alkaloid metabolic process GO:0033076 9.37 TH DDC
21 dopamine biosynthetic process GO:0042416 9.33 TH SNCA DDC
22 phytoalexin metabolic process GO:0052314 9.32 TH DDC
23 epinephrine biosynthetic process GO:0042418 9.26 TH PNMT
24 norepinephrine biosynthetic process GO:0042421 9.13 TH GATA3 DBH
25 catecholamine biosynthetic process GO:0042423 8.92 TH PNMT DDC DBH

Molecular functions related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.93 WT1 TRPS1 TH SNCA SLC6A2 RAI1
2 DNA-binding transcription factor activity GO:0003700 9.89 WT1 TRPS1 PAX6 NR2F6 GATA3
3 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.76 TRPS1 PAX6 NR2F6 GATA3
4 sequence-specific DNA binding GO:0043565 9.72 WT1 TRPS1 PAX6 NR2F6 GATA3
5 protein domain specific binding GO:0019904 9.71 TRPS1 TH SNCA DDC
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 WT1 SNCA PAX6 GATA3
7 amino acid binding GO:0016597 9.48 TH DDC
8 HMG box domain binding GO:0071837 9.43 PAX6 GATA3
9 cuprous ion binding GO:1903136 9.26 SNCA ATP7A
10 copper-dependent protein binding GO:0032767 8.96 ATP7A ATOX1
11 copper ion binding GO:0005507 8.92 SNCA DBH ATP7A ATOX1

Sources for Dopamine Beta-Hydroxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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