MCID: DPM001
MIFTS: 50

Dopamine Beta-Hydroxylase Deficiency malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Dopamine Beta-Hydroxylase Deficiency

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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).

MalaCards: Dopamine Beta-Hydroxylase Deficiency, also known as dopamine beta hydroxylase deficiency, is related to parkinson's disease and neuronitis. An important gene associated with Dopamine Beta-Hydroxylase Deficiency is DBH (dopamine beta-hydroxylase (dopamine beta-monooxygenase)), and among its related pathways are Metabolism of amino acids and derivatives and Phenylalanine metabolism. The compounds dl-threo-dihydroxyphenylserine and l-dops have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skin, and related mouse phenotypes are renal/urinary system and vision/eye.

Wikipedia:63 Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase. It... more...

Description from OMIM:46 223360

GeneReviews summary for dbh

Aliases & Classifications for Dopamine Beta-Hydroxylase Deficiency

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
dopamine beta-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

dopamine beta-hydroxylase deficiency 19 21 46 48
dopamine beta hydroxylase deficiency 42 20 22 60
norepinephrine deficiency 19 42 21 48
noradrenaline deficiency 42 21 48
dopamine beta-hydroxylase deficiency, congenital 42
dopamine β-hydroxylase 21


External Ids:

OMIM46 223360
MESH via Orphanet35 C535600
ICD10 via Orphanet26 G90.8
SNOMED-CT via Orphanet57 237923004
UMLS via Orphanet61 C0342687

Related Diseases for Dopamine Beta-Hydroxylase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Dopamine Beta-Hydroxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease10.3
2neuronitis10.3
3fabry disease10.0DBH
4attention deficit hyperactivity disorder10.0DBH
5pure autonomic failure10.0DBH, DDC
6addison's disease10.0DDC, WT1
7primary hyperoxaluria10.0WT1, DBH
8carcinoid syndrome10.0DDC, DBH
9wagr syndrome10.0PAX6, WT1
10aniridia10.0PAX6, WT1
11epilepsy syndrome10.0DBH, DDC
12nephroblastoma10.0WT1, PAX6
13leukemia10.0DBH, PAX6, WT1

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



Diseases related to dopamine beta-hydroxylase deficiency

Clinical Features for Dopamine Beta-Hydroxylase Deficiency

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46OMIM
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Clinical features from OMIM:

223360

Clinical synopsis from OMIM:

223360

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Dopamine Beta-Hydroxylase Deficiency

Search CenterWatch for Dopamine Beta-Hydroxylase Deficiency

Genetic Tests for Dopamine Beta-Hydroxylase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Dopamine Beta-Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Dopamine Beta-Hydroxylase Deficiency20 DBH
2 Dopamine Beta Hydroxylase Deficiency22

Anatomical Context for Dopamine Beta-Hydroxylase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Dopamine Beta-Hydroxylase Deficiency:

32
Eye, Heart, Skin

Animal Models for Dopamine Beta-Hydroxylase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5PAX6, DDC, WT1
2MP:00053918.2PAX6, DBH, DDC
3MP:00053858.1PAX6, DBH, DDC, WT1
4MP:00053788.1WT1, DDC, DBH, PAX6
5MP:00107688.0PAX6, DBH, DDC, WT1
6MP:00053767.9WT1, DDC, DBH, PAX6

Publications for Dopamine Beta-Hydroxylase Deficiency

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50PubMed
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Articles related to Dopamine Beta-Hydroxylase Deficiency:

(show all 29)
idTitleAuthorsYear
1
Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. (21209083)
2011
2
Pontine norepinephrine defects in Mecp2-null mice involve deficient expression of dopamine beta-hydroxylase but not a loss of catecholaminergic neurons. (20193660)
2010
3
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. (20186791)
2010
4
Dopamine beta-hydroxylase deficiency involves the central autonomic network. (16830134)
2006
5
Dopamine beta-hydroxylase deficiency. (16722595)
2006
6
From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. (15495941)
2004
7
Congenital dopamine-beta-hydroxylase deficiency in humans. (15240410)
2004
8
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. (11857564)
2002
9
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. (12180590)
2002
10
Dopamine beta-hydroxylase deficiency impairs cellular immunity. (10051631)
1999
11
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. (9327848)
1998
12
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. (9651662)
1998
13
Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. (8801271)
1995
14
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
15
Dopamine Beta-Hydroxylase Deficiency (20301647)
1993
16
Sleeping with and without norepinephrine: effects of metoclopramide and D,L-threo-3,4-dihydroxyphenylserine on sleep in dopamine beta-hydroxylase deficiency. (1811317)
1991
17
Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. (1677640)
1991
18
Dopamine-beta-hydroxylase deficiency in humans. (2300263)
1990
19
Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency. (2295511)
1990
20
D,L-threo-3, 4-DOPS enhances rapid eye movement sleep in patients with congenital dopamine beta-hydroxylase deficiency. (2155257)
1990
21
Sleep patterns in congenital dopamine beta-hydroxylase deficiency. (2355243)
1990
22
Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase. (2217667)
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
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. (2890806)
1987
26
Dopamine in dopamine-beta-hydroxylase deficiency. (3683474)
1987
27
Congenital dopamine beta-hydroxylase deficiency. (2882120)
1987
28
Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. (2880016)
1987
29
Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency. (2890807)
1987

Genetic Variations for Dopamine Beta-Hydroxylase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Dopamine Beta-Hydroxylase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1DBHp.Val101MetVAR_022758
2DBHp.Asp114GluVAR_022759
3DBHp.Asp345AsnVAR_022760

Expression for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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

Pathways for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3DBH, DDC
2
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9.3DBH, DDC
3
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9.3DDC, DBH
4
Tyrosine metabolism p.1 (dopamine)
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9.3DBH, DDC
5
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9.3DBH, DDC

Compounds for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 2BitterDB
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Compounds related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1dl-threo-dihydroxyphenylserine449.7DBH, DDC
2l-dops449.7DBH, DDC
3dops449.7DBH, DDC
4carbidopa44 2810.7DDC, DBH
5mhpg449.6DDC, DBH
6homovanillic acid44 2410.6DDC, DBH
7l-amino acid449.6DBH, DDC
8tetrahydrobiopterin44 11 2411.6DBH, DDC
96-hydroxydopamine449.6DDC, DBH
10mptp449.6DBH, DDC
11levodopa44 1110.5DBH, DDC
12amine449.5DDC, DBH
13catecholamine449.5DBH, DDC
145-hydroxytryptamine449.3DBH, DDC
15phenylalanine449.3DBH, DDC
16chloramphenicol44 2 1111.1DBH, DDC, WT1
17histidine449.1DBH, DDC, WT1
18choline44 11 2411.0DBH, DDC
19glutamate448.6PAX6, DBH, DDC
20alanine448.6DDC, DBH, PAX6
21glucose448.4DDC, DBH, PAX6

GO Terms for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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16Gene Ontology
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Biological processes related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular nitrogen compound metabolic processGO:0346419.3DBH, DDC
2catecholamine biosynthetic processGO:0424239.2DBH, DDC
3glucose homeostasisGO:0425938.8PAX6, DBH

Products for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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  • Antibodies
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Sources for Dopamine Beta-Hydroxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet