MCID: DPM001
MIFTS: 45

Dopamine Beta-Hydroxylase Deficiency malady

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

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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 based summary: Dopamine Beta-Hydroxylase Deficiency, also known as dopamine beta hydroxylase deficiency, is related to dysautonomia and parkinson's disease, and has symptoms including 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:46 223360

GeneReviews summary for dbh

Aliases & Classifications for Dopamine Beta-Hydroxylase Deficiency

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Sources:
19GeneReviews, 21Genetics Home Reference, 46OMIM, 48Orphanet, 42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dopamine Beta-Hydroxylase Deficiency, Aliases & Descriptions:

Name: Dopamine Beta-Hydroxylase Deficiency 19 21 46 48
Dopamine Beta Hydroxylase Deficiency 42 20 22 62
Norepinephrine Deficiency 19 42 21 48
 
Noradrenaline Deficiency 42 21 48
Dopamine Beta-Hydroxylase Deficiency, Congenital 42
Dopamine β-Hydroxylase 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 223360
MESH via Orphanet35 C535600
ICD10 via Orphanet26 G90.8
UMLS via Orphanet63 C0342687

Related Diseases for Dopamine Beta-Hydroxylase Deficiency

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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
2parkinson's disease10.3
3neuronitis10.3
4primary hyperoxaluria10.0DBH, WT1
5wagr syndrome10.0PAX6, WT1
6aniridia10.0WT1, PAX6
7nephroblastoma10.0WT1, PAX6
8wilms tumor9.9PAX6, WT1
9mental retardation9.9WT1, PAX6
10malignant glioma9.8DBH, PAX6
11retinoblastoma9.8PAX6, WT1
12schizophrenia9.7DBH, PAX6
13leukemia9.7DBH, PAX6, WT1

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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Symptoms by clinical synopsis from OMIM:

223360

Clinical features from OMIM:

223360

HPO human phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nocturia HP:0000017
3 high palate HP:0000218
4 ptosis HP:0000508
5 seizures HP:0001250
6 orthostatic hypotension HP:0001278
7 neonatal hypoglycemia HP:0001998
8 intermittent hypothermia HP:0005964
9 intermittent hypothermia HP:0005964
10 retrograde ejaculation HP:0012877

Drugs & Therapeutics for Dopamine Beta-Hydroxylase Deficiency

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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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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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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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MGI Mouse Phenotypes related to Dopamine Beta-Hydroxylase Deficiency:

36
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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Articles related to Dopamine Beta-Hydroxylase Deficiency:

(show all 24)
idTitleAuthorsYear
1
Dopamine beta-hydroxylase deficiency involves the central autonomic network. (16830134)
2006
2
Dopamine beta-hydroxylase deficiency. (16722595)
2006
3
From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. (15495941)
2004
4
Congenital dopamine-beta-hydroxylase deficiency in humans. (15240410)
2004
5
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. (12180590)
2002
6
Dopamine beta-hydroxylase deficiency impairs cellular immunity. (10051631)
1999
7
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene. (9327848)
1998
8
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. (9651662)
1998
9
Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. (8801271)
1995
10
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
11
Dopamine Beta-Hydroxylase Deficiency (20301647)
1993
12
Sleeping with and without norepinephrine: effects of metoclopramide and D,L-threo-3,4-dihydroxyphenylserine on sleep in dopamine beta-hydroxylase deficiency. (1811317)
1991
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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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:

6
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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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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Sources:
44Novoseek, 2BitterDB, 50PharmGKB, 11DrugBank
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Compounds related to Dopamine Beta-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloramphenicol44 2 50 1112.4WT1, DBH
2histidine449.4WT1, DBH
3forskolin44 50 1111.3DBH, WT1
4oligonucleotide449.3WT1, DBH
5lysine449.0WT1, DBH
6proline449.0WT1, PAX6
7serine448.7WT1, PAX6, DBH

GO Terms for genes affiliated with Dopamine Beta-Hydroxylase Deficiency

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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
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet