MCID: DPM001
MIFTS: 45

Dopamine Beta-Hydroxylase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Dopamine Beta-Hydroxylase Deficiency

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 dysautonomia and neuronitis. An important gene associated with Dopamine Beta-Hydroxylase Deficiency is DBH (dopamine beta-hydroxylase (dopamine beta-monooxygenase)). The compounds chloramphenicol and histidine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skin, and related mouse phenotypes are endocrine/exocrine gland and normal.

Wikipedia:65 Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase. It... more...

Description from OMIM:47 223360

GeneReviews summary for dbh

Aliases & Classifications for Dopamine Beta-Hydroxylase Deficiency

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dopamine beta-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

dopamine beta-hydroxylase deficiency 19 21 47 49
dopamine beta hydroxylase deficiency 43 20 22 62
norepinephrine deficiency 19 43 21 49
noradrenaline deficiency 43 21 49
dopamine beta-hydroxylase deficiency, congenital 43
dopamine β-hydroxylase 21


External Ids:

OMIM47 223360
MESH via Orphanet36 C535600
ICD10 via Orphanet26 G90.8
SNOMED-CT via Orphanet59 237923004
UMLS via Orphanet63 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
1dysautonomia10.5
2neuronitis10.3
3parkinson's disease10.3
4primary hyperoxaluria10.0WT1, DBH
5wagr syndrome10.0WT1, PAX6
6aniridia10.0WT1, PAX6
7nephroblastoma10.0PAX6, WT1
8wilms tumor10.0PAX6, WT1
9mental retardation10.0WT1, PAX6
10malignant glioma10.0PAX6, DBH
11retinoblastoma10.0PAX6, WT1
12schizophrenia9.9PAX6, DBH
13leukemia9.9WT1, PAX6, DBH

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



Diseases related to dopamine beta-hydroxylase deficiency

Symptoms for Dopamine Beta-Hydroxylase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

223360

Clinical features from OMIM:

223360

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dopamine Beta-Hydroxylase Deficiency

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Dopamine Beta-Hydroxylase Deficiency:

33
Eye, Heart, Skin

Animal Models for Dopamine Beta-Hydroxylase Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6WT1, PAX6, DBH
2MP:00028738.5WT1, PAX6, DBH
3MP:00053768.5WT1, PAX6, DBH
4MP:00053858.4DBH, PAX6, WT1
5MP:00053788.2WT1, PAX6, DBH

Publications for Dopamine Beta-Hydroxylase Deficiency

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Sources:
52PubMed
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Articles related to Dopamine Beta-Hydroxylase Deficiency:

(show all 24)
idTitleAuthorsYear
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
From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. (15495941)
2004
5
Congenital dopamine-beta-hydroxylase deficiency in humans. (15240410)
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
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. (9327848)
1998
9
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. (9651662)
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
Dopamine-beta-hydroxylase deficiency in humans. (2300263)
1990
15
Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency. (2295511)
1990
16
D,L-threo-3, 4-DOPS enhances rapid eye movement sleep in patients with congenital dopamine beta-hydroxylase deficiency. (2155257)
1990
17
Sleep patterns in congenital dopamine beta-hydroxylase deficiency. (2355243)
1990
18
d,l-threo-3,4-dihydroxyphenylserine restores sympathetic control and cures orthostatic hypotension in dopamine beta-hydroxylase deficiency. (3149290)
1988
19
Patients with congenital dopamine beta-hydroxylase deficiency. A lesson in catecholamine physiology. (3291893)
1988
20
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. (2890806)
1987
21
Dopamine in dopamine-beta-hydroxylase deficiency. (3683474)
1987
22
Congenital dopamine beta-hydroxylase deficiency. (2882120)
1987
23
Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. (2880016)
1987
24
Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency. (2890807)
1987

Variations for Dopamine Beta-Hydroxylase Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Dopamine Beta-Hydroxylase Deficiency:

64
id Symbol AA change Variation ID SNP ID
1DBHp.Val101MetVAR_022758
2DBHp.Asp114GluVAR_022759
3DBHp.Asp345AsnVAR_022760

Clinvar genetic disease variations for Dopamine Beta-Hydroxylase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1DBHNM_000787.3(DBH): c.339+2T> Csingle nucleotide variantPathogenicrs74853476GRCh37Chr 9, 136501834: 136501834
2DBHNM_000787.3(DBH): c.342C> A (p.Asp114Glu)single nucleotide variantPathogenicrs77576840GRCh37Chr 9, 136504970: 136504970
3DBHNM_000787.3(DBH): c.301G> A (p.Val101Met)single nucleotide variantPathogenicrs267606760GRCh37Chr 9, 136501794: 136501794

Expression for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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2BioGPS, 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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Compounds for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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45Novoseek, 3BitterDB, 51PharmGKB, 11DrugBank
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Compounds related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloramphenicol45 3 51 1112.4WT1, DBH
2histidine459.4WT1, DBH
3forskolin45 51 1111.3DBH, WT1
4oligonucleotide459.3WT1, DBH
5lysine459.0WT1, DBH
6proline459.0WT1, PAX6
7serine458.7WT1, PAX6, DBH

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
1positive regulation of transcription, DNA-templatedGO:0458939.1WT1, PAX6
2glucose homeostasisGO:0425938.7PAX6, DBH

Products for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Dopamine Beta-Hydroxylase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet