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DBH DEFICIENCY
MCID: DPM007
MIFTS: 56

Dopamine Beta-Hydroxylase Deficiency, Congenital (DBH DEFICIENCY)

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dopamine Beta-Hydroxylase Deficiency, Congenital

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MalaCards integrated aliases for Dopamine Beta-Hydroxylase Deficiency, Congenital:

Name: Dopamine Beta-Hydroxylase Deficiency, Congenital 57 53
Dopamine Beta-Hydroxylase Deficiency 57 12 24 25 59 75 37 13 15
Dopamine Beta Hydroxylase Deficiency 76 53 29 6 44 40 73
Norepinephrine Deficiency 57 12 24 53 25 59 75
Noradrenaline Deficiency 57 12 53 25 59 75
Congenital Dopamine Beta-Hydroxylase Deficiency 12
Dopamine-Beta-Hydroxylase 13
Dbh Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
dopamine beta-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dopamine beta-hydroxylase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 223360
Disease Ontology 12 DOID:0090145
MeSH 44 C535600
Orphanet 59 ORPHA230
MESH via Orphanet 45 C535600
UMLS via Orphanet 74 C0342687
ICD10 via Orphanet 34 G90.8
KEGG 37 H01005
UMLS 73 C0342687
Sources

Summaries for Dopamine Beta-Hydroxylase Deficiency, Congenital

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NIH Rare Diseases : 53 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, Congenital, also known as dopamine beta-hydroxylase deficiency, is related to attention deficit-hyperactivity disorder and postural hypotension, and has symptoms including nasal congestion (finding) An important gene associated with Dopamine Beta-Hydroxylase Deficiency, Congenital is DBH (Dopamine Beta-Hydroxylase), and among its related pathways/superpathways are Tyrosine metabolism and Neuroscience. The drugs Droxidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skin, and related phenotypes are high palate and ptosis

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 : 25 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).

UniProtKB/Swiss-Prot : 75 Dopamine beta-hydroxylase deficiency: Characterized by profound deficits in autonomic and cardiovascular function, but apparently only subtle signs, if any, of central nervous system dysfunction.

Wikipedia : 76 Dopamine beta (β)-hydroxylase deficiency (DβH deficiency) is a condition involving inadequate dopamine... more...

Description from OMIM: 223360
GeneReviews: NBK1474
Sources

Related Diseases for Dopamine Beta-Hydroxylase Deficiency, Congenital

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 31.0 DBH MAOA SLC6A2 TH
2 postural hypotension 30.5 DBH DDC
3 hereditary dystonia 30.4 DBH GCH1 TH
4 pure autonomic failure 30.3 DBH DDC MAOA TH
5 pheochromocytoma 30.2 DBH DDC SLC6A2 TH
6 disease of mental health 30.0 APP MAOA NPS PSEN1 SLC6A2
7 dopamine beta-hydroxylase, plasma, thermolability of 12.6
8 neuroblastoma 11.1
9 schizophrenia 10.6
10 depression 10.4
11 alzheimer disease 10.4
12 dystonia 10.4
13 conduct disorder 10.4
14 dysautonomia 10.2
15 hyperphenylalaninemia, bh4-deficient, b 10.2 GCH1 TH
16 gilles de la tourette syndrome 10.2
17 neuropathy, hereditary sensory and autonomic, type iii 10.2
18 tardive dyskinesia 10.2
19 paranoid schizophrenia 10.2
20 post-traumatic stress disorder 10.2
21 vaccinia 10.2
22 oppositional defiant disorder 10.2 DBH MAOA SLC6A2
23 segawa syndrome, autosomal recessive 10.2 GCH1 TH
24 supratentorial primitive neuroectodermal tumor 10.2 DDC TH
25 dystonia 11, myoclonic 10.2 DBH GCH1 TH
26 early-onset, autosomal dominant alzheimer disease 10.2 APP PSEN1
27 mental depression 10.2 GATA3 MAOA SLC6A2
28 movement disease 10.2 DDC GCH1 TH
29 gait apraxia 10.1 APP PSEN1
30 familial idiopathic basal ganglia calcification 10.1 APP PSEN1
31 autonomic nervous system neoplasm 10.1 APP SLC6A2 TH
32 mood disorder 10.1 MAOA SLC6A2 TH
33 synucleinopathy 10.1 APP DDC TH
34 kohlschutter-tonz syndrome 10.1 APP PSEN1
35 oculogyric crisis 10.1 DDC GCH1 KANTR
36 supranuclear palsy, progressive, 1 10.1 APP PSEN1 TH
37 dementia, lewy body 10.1 APP PSEN1 TH
38 kluver-bucy syndrome 10.1 APP PSEN1
39 alexia 10.1 KANTR PSEN1
40 amphetamine abuse 10.1 KANTR NPS SLC6A2
41 alcohol dependence 10.1
42 hypertension, essential 10.1
43 multiple system atrophy 1 10.1
44 torticollis 10.1
45 autism 10.1
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.1
47 familial mediterranean fever 10.1
48 lesch-nyhan syndrome 10.1
49 menkes disease 10.1
50 major depressive disorder 10.1

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



Diseases related to Dopamine Beta-Hydroxylase Deficiency, Congenital
Sources

Symptoms & Phenotypes for Dopamine Beta-Hydroxylase Deficiency, Congenital

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
delayed eye opening as a neonate (up to 2 weeks)

Head And Neck Mouth:
high-arched palate

Cardiovascular Vascular:
orthostatic hypotension, severe, recurrent
fainting spells

Neurologic Central Nervous System:
seizures may occur during hypotensive episodes

Laboratory Abnormalities:
undetectable norepinephrine (noradrenaline) in plasma, urine, csf
undetectable epinephrine (adrenaline) in plasma, urine, csf
greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)
increased plasma dihydroxyphenylacetic acid (dopac)
stimulation of sympathetic fibers results in release of dopamine, not norepinephrine
more
Genitourinary Bladder:
nocturia

Head And Neck Nose:
nasal stuffiness

Genitourinary Internal Genitalia Male:
impaired ejaculation due to impaired sympathetic activity
retrograde ejaculation

Metabolic Features:
hypoglycemia, episodic, in infants
hypothermia, episodic, in infants


Clinical features from OMIM:

223360

Human phenotypes related to Dopamine Beta-Hydroxylase Deficiency, Congenital:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 ptosis 32 HP:0000508
3 seizures 32 HP:0001250
4 neonatal hypoglycemia 32 HP:0001998
5 orthostatic hypotension 32 HP:0001278
6 nocturia 32 HP:0000017
7 retrograde ejaculation 32 HP:0012877
8 intermittent hypothermia 32 HP:0005964

UMLS symptoms related to Dopamine Beta-Hydroxylase Deficiency, Congenital:


nasal congestion (finding)

MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ADAM8 APP ATOX1 CYB561 DBH DDC
2 cardiovascular system MP:0005385 10.11 APP ATOX1 CYB561 DBH DDC GATA3
3 behavior/neurological MP:0005386 10.1 APP ATOX1 CYB561 DBH DDC MAOA
4 growth/size/body region MP:0005378 10.1 APP ATOX1 CYB561 DBH DDC DUSP26
5 integument MP:0010771 9.76 APP ATOX1 CYB561 DBH GATA3 PSEN1
6 nervous system MP:0003631 9.73 APP ATOX1 DBH DDC GATA3 GCH1
7 vision/eye MP:0005391 9.28 ATOX1 CYB561 DBH DDC GATA3 PCLAF
Sources

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency, Congenital

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Droxidopa Approved, Investigational Phase 3,Phase 1,Phase 2 23651-95-8 443940
2
Dopamine Approved Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
3
Metoclopramide Approved, Investigational Phase 3,Phase 1 364-62-5 4168
4
Methyldopa Approved Phase 3,Phase 1 555-30-6 38853
5
Levodopa Approved Phase 3 59-92-7 6047
6
Carbidopa Approved Phase 3,Phase 1,Phase 2 28860-95-9 34359 38101
7
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
8 Dopamine Agents Phase 3,Phase 2,Phase 1,Not Applicable
9 Antiparkinson Agents Phase 3,Phase 1,Phase 2
10 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
11 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
12 Cardiotonic Agents Phase 3,Phase 2,Phase 1,Not Applicable
13 Sympathomimetics Phase 3,Phase 2,Phase 1,Not Applicable
14 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
15 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
16 Dopamine D2 Receptor Antagonists Phase 3,Phase 1
17 Adrenergic alpha-Agonists Phase 3,Phase 1,Phase 2
18 Sympatholytics Phase 3,Phase 1
19 Adrenergic Agents Phase 3,Phase 1,Phase 2
20 Antihypertensive Agents Phase 3,Phase 1
21 Dopamine Antagonists Phase 3,Phase 1
22 Gastrointestinal Agents Phase 3,Phase 1
23 Adrenergic Agonists Phase 3,Phase 1,Phase 2
24 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
25 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1
26 Antiemetics Phase 3,Phase 1
27 alpha-methyltyrosine Phase 3
28 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 1,Phase 2
29 Atomoxetine Hydrochloride Phase 3
30
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
31
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
32 Vasoconstrictor Agents Phase 1, Phase 2
33 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
34 Catechol Phase 1, Phase 2
35
Dipivefrin Approved Phase 1 52365-63-6 3105
36
Edrophonium Approved Phase 1 116-38-1, 312-48-1 3202
37
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
38
Isoproterenol Approved, Investigational Phase 1 7683-59-2 3779
39
Phenylephrine Approved Phase 1 59-42-7 6041
40
Oxymetazoline Approved, Investigational Phase 1 1491-59-4 4636
41
Cyclopentolate Approved Phase 1 512-15-2 2905
42
Ephedrine Approved Phase 1 299-42-3 9294
43
Tropicamide Approved, Investigational Phase 1 1508-75-4 5593
44
Clonidine Approved Phase 1 4205-90-7 2803
45
Nitroprusside Approved, Investigational Phase 1 15078-28-1 11963622
46
Propranolol Approved, Investigational Phase 1 525-66-6 4946
47
Atropine Approved, Vet_approved Phase 1 51-55-8, 5908-99-6 174174
48
Nitric Oxide Approved Phase 1 10102-43-9 145068
49
Pseudoephedrine Approved Phase 1 90-82-4 7028
50 Vasodilator Agents Phase 1

Interventional clinical trials:


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

Cochrane evidence based reviews: dopamine beta hydroxylase deficiency

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Genetic Tests for Dopamine Beta-Hydroxylase Deficiency, Congenital

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Genetic tests related to Dopamine Beta-Hydroxylase Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Dopamine Beta Hydroxylase Deficiency 29 DBH
Sources

Anatomical Context for Dopamine Beta-Hydroxylase Deficiency, Congenital

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

41
Eye, Testes, Skin, Heart
Sources

Publications for Dopamine Beta-Hydroxylase Deficiency, Congenital

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Articles related to Dopamine Beta-Hydroxylase Deficiency, Congenital:

(show all 25)
# Title Authors Year
1
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. ( 20186791 )
2010
2
Dopamine beta-hydroxylase deficiency involves the central autonomic network. ( 16830134 )
2006
3
Dopamine beta-hydroxylase deficiency. ( 16722595 )
2006
4
Congenital dopamine-beta-hydroxylase deficiency in humans. ( 15240410 )
2004
5
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. ( 15495941 )
2004
6
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. ( 12180590 )
2002
7
Dopamine beta-hydroxylase deficiency impairs cellular immunity. ( 10051631 )
1999
8
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. ( 9651662 )
1998
9
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. ( 9327848 )
1998
10
Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. ( 8801271 )
1995
11
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
12
Dopamine Beta-Hydroxylase Deficiency ( 20301647 )
1993
13
Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. ( 1677640 )
1991
14
Sleeping with and without norepinephrine: effects of metoclopramide and D,L-threo-3,4-dihydroxyphenylserine on sleep in dopamine beta-hydroxylase deficiency. ( 1811317 )
1991
15
D,L-threo-3, 4-DOPS enhances rapid eye movement sleep in patients with congenital dopamine beta-hydroxylase deficiency. ( 2155257 )
1990
16
Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency. ( 2295511 )
1990
17
Sleep patterns in congenital dopamine beta-hydroxylase deficiency. ( 2355243 )
1990
18
Dopamine-beta-hydroxylase deficiency in humans. ( 2300263 )
1990
19
d,l-threo-3,4-dihydroxyphenylserine restores sympathetic control and cures orthostatic hypotension in dopamine beta-hydroxylase deficiency. ( 3149290 )
1988
20
Patients with congenital dopamine beta-hydroxylase deficiency. A lesson in catecholamine physiology. ( 3291893 )
1988
21
Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. ( 2880016 )
1987
22
Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency. ( 2890807 )
1987
23
Dopamine in dopamine-beta-hydroxylase deficiency. ( 3683474 )
1987
24
Congenital dopamine beta-hydroxylase deficiency. ( 2882120 )
1987
25
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. ( 2890806 )
1987
Sources

Variations for Dopamine Beta-Hydroxylase Deficiency, Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Dopamine Beta-Hydroxylase Deficiency, Congenital:

75
# Symbol AA change Variation ID SNP ID
1 DBH p.Val101Met VAR_022758 rs267606760
2 DBH p.Asp114Glu VAR_022759 rs77576840
3 DBH p.Asp345Asn VAR_022760 rs267606761

ClinVar genetic disease variations for Dopamine Beta-Hydroxylase Deficiency, Congenital:

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 GRCh37 Chromosome 9, 136496870: 136496871
10 DBH NG_008645.1: g.386_387(11_15) NT expansion Benign 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.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance rs886063657 GRCh37 Chromosome 9, 136505035: 136505035
26 DBH NM_000787.3(DBH): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance rs886063657 GRCh38 Chromosome 9, 133639913: 133639913
27 DBH NM_000787.3(DBH): c.486+13C> T single nucleotide variant Likely benign rs1611119 GRCh37 Chromosome 9, 136505127: 136505127
28 DBH NM_000787.3(DBH): c.486+13C> T single nucleotide variant Likely benign rs1611119 GRCh38 Chromosome 9, 133640005: 133640005
29 DBH NM_000787.3(DBH): c.602A> G (p.Asn201Ser) single nucleotide variant Likely benign rs45465204 GRCh37 Chromosome 9, 136507444: 136507444
30 DBH NM_000787.3(DBH): c.602A> G (p.Asn201Ser) single nucleotide variant Likely benign rs45465204 GRCh38 Chromosome 9, 133642322: 133642322
31 DBH NM_000787.3(DBH): c.631G> A (p.Ala211Thr) single nucleotide variant Likely benign rs5320 GRCh37 Chromosome 9, 136507473: 136507473
32 DBH NM_000787.3(DBH): c.631G> A (p.Ala211Thr) single nucleotide variant Likely benign rs5320 GRCh38 Chromosome 9, 133642351: 133642351
33 DBH NM_000787.3(DBH): c.735C> T (p.His245=) single nucleotide variant Likely benign rs5322 GRCh37 Chromosome 9, 136507577: 136507577
34 DBH NM_000787.3(DBH): c.735C> T (p.His245=) single nucleotide variant Likely benign rs5322 GRCh38 Chromosome 9, 133642455: 133642455
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
Sources

Expression for Dopamine Beta-Hydroxylase Deficiency, Congenital

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

Pathways for Dopamine Beta-Hydroxylase Deficiency, Congenital

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

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350

Pathways related to Dopamine Beta-Hydroxylase Deficiency, Congenital according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.34 APP DBH DDC PSEN1 TH
2
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.95 DDC GATA3 MAOA TH
3
Amphetamine addiction 37
Show member pathways
 11.74 DDC MAOA TH
4
Serotonergic synapse 37
11.71 APP DDC MAOA
5
Amino Acid metabolism 1
11.58 DBH DDC MAOA TH
6
Phenylalanine metabolism 37
Show member pathways
 11.44 DBH DDC MAOA TH
7
Amine-derived hormones 66
Show member pathways
 11.15 DBH DDC TH
8
A-beta Pathways: Plaque Formation and APP Metabolism 65
10.89 APP PSEN1
9
Monoamine Transport 1
Show member pathways
 10.89 DBH MAOA SLC6A2 TH
10
Sympathetic Nerve Pathway (Neuroeffector Junction) 61
10.87 DBH SLC6A2
11
Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) 61
10.54 DDC TH
12
Dopamine metabolism 1
10.48 DDC MAOA TH
13
Biogenic Amine Synthesis 1
Show member pathways
 10.27 DBH DDC MAOA TH
Sources

GO Terms for Dopamine Beta-Hydroxylase Deficiency, Congenital

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Cellular components related to Dopamine Beta-Hydroxylase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary rootlet GO:0035253 8.96 APP PSEN1
2 smooth endoplasmic reticulum GO:0005790 8.8 APP PSEN1 TH

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.82 APP ATOX1 PSEN1
2 response to ethanol GO:0045471 9.81 GATA3 TH TRH
3 locomotory behavior GO:0007626 9.79 APP DBH TH
4 memory GO:0007613 9.78 DBH PSEN1 TH
5 visual learning GO:0008542 9.71 APP DBH NPS
6 regulation of protein binding GO:0043393 9.65 APP PSEN1
7 response to corticosterone GO:0051412 9.64 TH TRH
8 multicellular organism aging GO:0010259 9.63 DDC TH
9 positive regulation of T cell migration GO:2000406 9.63 ADAM8 APP
10 cellular copper ion homeostasis GO:0006878 9.62 APP ATOX1
11 cell activation GO:0001775 9.61 CCL3 GATA3
12 astrocyte activation GO:0048143 9.6 APP PSEN1
13 neuron projection maintenance GO:1990535 9.59 APP PSEN1
14 cellular response to alkaloid GO:0071312 9.58 DDC TH
15 cellular response to manganese ion GO:0071287 9.58 APP TH
16 dopamine catabolic process GO:0042420 9.57 DBH MAOA
17 mating behavior GO:0007617 9.56 APP TH
18 modulation of age-related behavioral decline GO:0090647 9.55 APP PSEN1
19 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.52 APP PSEN1
20 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.51 DDC TH
21 positive regulation of amyloid fibril formation GO:1905908 9.49 APP PSEN1
22 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.48 APP PSEN1
23 response to pyrethroid GO:0046684 9.46 DDC TH
24 astrocyte activation involved in immune response GO:0002265 9.43 APP PSEN1
25 response to pain GO:0048265 9.43 DBH GCH1 SLC6A2
26 isoquinoline alkaloid metabolic process GO:0033076 9.4 DDC TH
27 phytoalexin metabolic process GO:0052314 9.37 DDC TH
28 dopamine biosynthetic process GO:0042416 9.33 DDC GCH1 TH
29 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.32 APP PSEN1
30 catecholamine biosynthetic process GO:0042423 9.13 DBH DDC TH
31 norepinephrine biosynthetic process GO:0042421 8.8 DBH GATA3 TH

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

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.62 DDC TH
Sources

Sources for Dopamine Beta-Hydroxylase Deficiency, Congenital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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