" /> Orthostatic hypotension 1 - CISMeF





Preferred Label : Orthostatic hypotension 1;

Symbol : ORTHYP1;

CISMeF acronym : ORTHYP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Norepinephrine deficiency; Noradrenaline deficiency; Dopamine beta-hydroxylase deficiency, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dopamine beta-hydroxylase gene (DBH, 609312.0002);

Laboratory abnormalities : Increased plasma dihydroxyphenylacetic acid (DOPAC); Undetectable epinephrine (adrenaline) in plasma, urine, CSF; Stimulation of sympathetic fibers results in release of dopamine, not norepinephrine; Undetectable norepinephrine (noradrenaline) in plasma, urine, CSF; Undetectable dopamine beta-hydroxylase (DBH) protein in plasma, CSF, or sympathetic fibers; Greatly increased dopamine in plasma, urine, CSF (approximately 10-fold increase); Undetectable plasma DBH activity; Decreased serum prolactin;

Prefixed ID : #223360;

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04/05/2025


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