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;
Origin ID : 223360;
UMLS CUI : C4746777;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)