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dopamine beta hydroxylase deficiency

A congenital syndrome caused by mutations in the dopamine beta-hydroxylase (DBH) gene. It is characterized by ORTHOSTATIC HYPOTENSION; frequent SYNCOPE especially following exercies, BLEPHAROPTOSIS; and delayed eye opening in affected neonates. Norepinephrine is greatly reduced in body fluids while dopamine is greatly increased. OMIM: 223360
Also Known As:
Congenital dopamine beta hydroxylase deficiency; Dopamine beta Hydroxylase Deficiency, Congenital; Noradrenaline deficiency; Norepinephrine deficiency; dopamine b-hydroxylase; dopamine beta-hydroxylase deficiency
Networked: 91 relevant articles (3 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Pure Autonomic Failure
2. Orthostatic Hypotension (Postural Hypotension)
3. Parkinson Disease (Parkinson's Disease)
4. Multiple System Atrophy
5. Dizziness (Lightheadedness)

Experts

1. Goldstein, David S: 3 articles (01/2019 - 06/2012)
2. Robertson, David: 3 articles (03/2011 - 03/2002)
3. Sharabi, Yehonatan: 2 articles (01/2019 - 06/2012)
4. Kaler, Stephen G: 2 articles (02/2013 - 02/2003)
5. Biaggioni, Italo: 2 articles (03/2011 - 03/2002)
6. Kim, Chun-Hyung: 2 articles (03/2011 - 03/2002)
7. Kim, Kwang-Soo: 2 articles (03/2011 - 03/2002)
8. Iqbal, Mujahid: 1 article (05/2022)
9. Li, Ying: 1 article (05/2022)
10. Liu, Kai: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to dopamine beta hydroxylase deficiency:
1. Norepinephrine (Noradrenaline)FDA LinkGeneric
2. EnzymesIBA
3. Dopamine (Intropin)FDA LinkGeneric
4. DroxidopaIBA
5. MethoxyhydroxyphenylglycolIBA
6. Clonidine (ST 155)FDA LinkGeneric
7. CatecholaminesIBA
8. AcidsIBA
9. Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA
10. Neurotransmitter Agents (Neurotransmitter)IBA

Therapies and Procedures

1. Therapeutics
2. Bed Rest (Bedrest)
3. Sympathectomy (Sympathectomies)
4. Heart Transplantation (Grafting, Heart)
5. Hypophysectomy