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MCID: DPM007
MIFTS: 39

Dopamine Beta-Hydroxylase Deficiency, Congenital

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic 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
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
Dopamine Β-Hydroxylase 25
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
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


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. Some people have experienced drooping eyelids (ptosis), 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 dopamine beta-hydroxylase, plasma, thermolability of and primary orthostatic 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 is Tyrosine metabolism. The drugs Dopamine and Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skin, and related phenotypes are high palate and ptosis

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.

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).

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.

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:

# Related Disease Score Top Affiliating Genes
1 dopamine beta-hydroxylase, plasma, thermolability of 12.4
2 primary orthostatic hypotension 11.3
3 dysautonomia 10.1
4 neuronitis 9.9
5 insensitivity to pain, congenital, with anhidrosis 9.6
6 neuropathy, hereditary sensory and autonomic, type v 9.6
7 anhidrosis 9.6

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



Diseases related to Dopamine Beta-Hydroxylase Deficiency, Congenital
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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

GenitourinaryInternal GenitaliaMale:
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)
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 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
2
Droxidopa Approved, Investigational Phase 3,Phase 1,Phase 2 23651-95-8 443940
3
Methyldopa Approved Phase 3,Phase 1 555-30-6 38853
4
Metoclopramide Approved, Investigational Phase 3,Phase 1 364-62-5 4168
5
Carbidopa Approved Phase 3,Phase 1,Phase 2 28860-95-9 34359 38101
6
Levodopa Approved Phase 3 59-92-7 6047
7
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
8 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
9 Dopamine Agents Phase 3,Phase 2,Phase 1,Not Applicable
10 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
11 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
12 Antiparkinson Agents Phase 3,Phase 1,Phase 2
13 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
14 Adrenergic Agents Phase 3,Phase 1,Phase 2
15 Adrenergic Agonists Phase 3,Phase 1,Phase 2
16 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
17 Adrenergic alpha-Agonists Phase 3,Phase 1,Phase 2
18 Gastrointestinal Agents Phase 3,Phase 1
19 Sympatholytics Phase 3,Phase 1
20 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1
21 Dopamine Antagonists Phase 3,Phase 1
22 Dopamine D2 Receptor Antagonists Phase 3,Phase 1
23 Antihypertensive Agents Phase 3,Phase 1
24 Antiemetics Phase 3,Phase 1
25 alpha-methyltyrosine Phase 3
26 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 1,Phase 2
27 Atomoxetine Hydrochloride Phase 3
28
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
29
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
30 Vasoconstrictor Agents Phase 1, Phase 2
31 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
32 Catechol Nutraceutical Phase 1, Phase 2
33
Clonidine Approved Phase 1 4205-90-7 2803
34
Ephedrine Approved Phase 1 299-42-3 9294
35
Pseudoephedrine Approved Phase 1 90-82-4 7028
36
Phenylephrine Approved Phase 1 59-42-7 6041
37
Atropine Approved, Vet_approved Phase 1 5908-99-6, 51-55-8 174174
38
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
39
Nitric Oxide Approved Phase 1 10102-43-9 145068 160954
40
Propranolol Approved, Investigational Phase 1 525-66-6 4946
41
Edrophonium Approved Phase 1 116-38-1 3202
42
Oxymetazoline Approved, Investigational Phase 1 1491-59-4 4636
43
Tropicamide Approved, Investigational Phase 1 1508-75-4 5593
44
Isoproterenol Approved, Investigational Phase 1 7683-59-2 3779
45
Cyclopentolate Approved Phase 1 512-15-2 2905
46
Nitroprusside Approved, Investigational Phase 1 15078-28-1 11963622
47
Dipivefrin Approved Phase 1 52365-63-6 3105
48 Analgesics Phase 1
49 Respiratory System Agents Phase 1
50 Adjuvants, Anesthesia 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 164)
# 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.
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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
Sources

GO Terms for Dopamine Beta-Hydroxylase Deficiency, Congenital

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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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