orthostatic hypotension 1
Findings
No curated finding names orthostatic hypotension 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
Definition from the Mondo Disease Ontology (MONDO:0009123), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating dihydroxyphenylacetic acid concentrationHPOHP:6000234
- 2 of 2 reported patients
- Orthostatic hypotensionHPOHP:0001278
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Reduced circulating dopamine beta-hydroxylase activityHPOHP:6000556
- 2 of 2 reported patients
- Retrograde ejaculationHPOHP:0012877
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Bilateral ptosisHPOHP:0001488
- Very frequent (80% to 99% of cases)
- Elevated urinary dopamine levelHPOHP:0011979
- Very frequent (80% to 99% of cases)
Show the remaining 32
- Elevated circulating creatinine concentrationHPOHP:0003259
- Frequent (30% to 79% of cases)
- Exercise-induced muscle fatigueHPOHP:0009020
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Increased blood urea nitrogenHPOHP:0003138
- 2 of 6 reported patients
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DBHHGNC:2689
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: orthostatic hypotension 1
- Also called
- dopamine beta-hydroxylase deficiencynoradrenaline deficiencynorepinephrine deficiencyorthostatic hypotension 1, due to DBH deficiency