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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the DBH gene cause dopamine beta-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine. Both dopamine and norepinephrine are neurotransmitters that transmit signals from nerve cells to other cells in the body.</p><p>The variants in the DBH gene that cause dopamine beta-hydroxylase deficiency prevent the dopamine beta-hydroxylase enzyme from functioning properly. People who lack functional dopamine beta-hydroxylase cannot convert dopamine to norepinephrine. This leads to orthostatic hypotension, exercise intolerance, and the other autonomic nervous system problems seen in people with dopamine beta-hydroxylase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Dopamine beta-hydroxylase deficiency?"},{"bodyHtml":"<p>Although the signs and symptoms of dopamine beta-hydroxylase deficiency can appear during infancy, people often do not receive a diagnosis until their symptoms worsen during adolescence. Early signs and symptoms may include droopy eyelids (ptosis) and low blood pressure (hypotension). Infants with dopamine beta-hydroxylase deficiency may also experience vomiting, dehydration, decreased body temperature, and low blood glucose (hypoglycemia), which may lead to frequent hospitalizations.</p><p>By adolescence or early adulthood, people with dopamine beta-hydroxylase deficiency often have a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. Affected individuals typically experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.</p><p>Other features of dopamine beta-hydroxylase deficiency include nasal congestion, an inability to stand for a prolonged period of time, and retrograde ejaculation, which is a discharge of semen backwards into the bladder.</p><p>Symptoms of dopamine beta-hydroxylase deficiency may improve with treatment. If the condition is not treated, symptoms often worsen during adolescence.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"dopamine-beta-hydroxylase-deficiency","sourceDocuments":[{"name":"Dopamine beta-hydroxylase deficiency","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:03.498775+00:00","label":"Causes","pageSha256":"24e588e455f9647e8828aa45d70b99cb3232fbaeccbff770da8ed939ac9d09a3","sourceUrl":"https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Dopamine beta-hydroxylase deficiency"},"schemaVersion":1}