Rare Pulmonology News

Disease Profile

Dopamine beta hydroxylase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

G90.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Norepinephrine deficiency; Noradrenaline deficiency; Dopamine beta-hydroxylase deficiency, congenital

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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. Other symptoms may include drooping eyelids (ptosis), nasal congestion, 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.[1][2] 

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bilateral ptosis
Drooping of both upper eyelids
0001488
Elevated urinary dopamine
0011979
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Rhinitis
Nasal inflammation
0012384
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine

[ more ]

0003259
Exercise-induced muscle fatigue
0009020
Fatigue
Tired
Tiredness

[ more ]

0012378
Hypoglycemia
Low blood sugar
0001943
Increased blood urea nitrogen
0003138
Reduced tendon reflexes
0001315
Retrograde ejaculation
0012877
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
5%-29% of people have these symptoms
Abnormal EKG
Abnormal ECG
0003115
Blurred vision
0000622
Chest pain
0100749
Dehydration
0001944
Diarrhea
Watery stool
0002014
Dyspnea
Trouble breathing
0002094
Hypothermia
Abnormally low body temperature
0002045
Muscular hypotonia
Low or weak muscle tone
0001252
Nocturia
0000017
Orthostatic syncope
0012670
Vertigo
Dizzy spell
0002321
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Hyperinsulinemia
0000842
Insulin resistance
Body fails to respond to insulin
0000855
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Ptosis
Drooping upper eyelid
0000508
Seizure
0001250

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Droxidopa(Brand name: Northera) Manufactured by Chelsea Therapeutics, Inc.
    FDA-approved indication: February 2014, Droxidopa (Northera) was approved for the treatment of orthostatic dizziness, lightheadedness, or the "feeling that you are about to black out" in adult patients with symptomatic neurogenic orthostatic hypotension caused by primary autonomic failure (Parkinson's disease, multiple system atrophy, and pure autonomic failure), dopamine beta-hydroxylase deficiency, and non-diabetic autonomic neuropathy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Dopamine beta hydroxylase deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dopamine beta hydroxylase deficiency. Click on the link to view a sample search on this topic.

References

  1. Dopamine beta-hydroxylase deficiency. Genetics Home Reference; September, 2008; https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency.
  2. David Robertson, MD and Emily M Garland, PhD. Dopamine Beta-Hydroxylase Deficiency. GeneReviews; October 29, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1474/.