Orthostatic hypotension 1: genes and variants
Orthostatic hypotension 1 is linked to 1 analyzed protein (DBH). 2 DNA variants are known to cause it; 139 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Orthostatic hypotension 1
DBH: Dopamine beta-hydroxylase
It converts dopamine to norepinephrine inside catecholamine-containing secretory vesicles, making it essential for sympathetic and noradrenergic neurotransmission. Biallelic loss-of-function variants cause dopamine beta-hydroxylase deficiency with profound orthostatic hypotension and autonomic dysfunction.
2 disease-causing and 139 uncertain variants in DBH are linked to Orthostatic hypotension 1.
Known disease-causing variants in Orthostatic hypotension 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DBH V101M | 101 | DOMON | Disease-causing |
| DBH D345N | 345 | Intragranular | Disease-causing |
Frequently asked questions
Which genes are linked to Orthostatic hypotension 1?
In CATVariant, Orthostatic hypotension 1 is linked to 1 analyzed protein: DBH (Dopamine beta-hydroxylase).
How many genetic variants are linked to Orthostatic hypotension 1?
177 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 139 are of uncertain significance or have conflicting reports.
Which uncertain variants in Orthostatic hypotension 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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