Orthostatic hypotension 1

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;

Détails

Origin ID

223360;

UMLS CUI

C4746777;

Currated CISMeF NLP mapping
- Dopamine beta hydroxylase deficiency [MeSH concept]
- Dopamine beta-hydroxylase deficiency [ICD-11 More detail]
- Dopamine beta-hydroxylase deficiency [ORDO Disease]
- Dopamine beta-hydroxylase deficiency (disorder) [SNOMED CT concept]
- dopamine beta hydroxylase deficiency [Disease (Nov.)]
- dopamine beta hydroxylase deficiency [MeSH Supplementary Concept]
- dopamine beta-hydroxylase deficiency [DO Concept]
DO Cross reference
- dopamine beta-hydroxylase deficiency [DO Concept]
Genes related to phenotype
- Dopamine beta-hydroxylase, plasma [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypothermia, episodic, in infants [HPO term]
- Intermittent hypothermia [HPO term]
- Neonatal hypoglycemia [HPO term]
- Nocturia [HPO term]
- Orthostatic hypotension [HPO term]
- Orthostatic hypotension, severe, recurrent [HPO term]
- Ptosis [HPO term]
- Retrograde ejaculation [HPO term]
- Seizure [HPO term]
- hypoglycemia, episodic, in infants [HPO term]
ORDO concept(s)
- Dopamine beta-hydroxylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dopamine beta hydroxylase deficiency [MeSH concept]
- Dopamine beta-hydroxylase deficiency [ORDO Disease]
- Dopamine beta-hydroxylase deficiency (disorder) [SNOMED CT concept]
- dopamine beta hydroxylase deficiency [MeSH Supplementary Concept]
- dopamine beta hydroxylase deficiency [Disease (Nov.)]
- dopamine beta-hydroxylase deficiency [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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