Dopamine beta-hydroxylase deficiency

Orpha code: 230OMIM code: 223360

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.

Disease data
Classification

Disease

Synonyms
DBH deficiency
Niedobór noradrenaliny
Niedobór norepinefryny
ORPHA code
230
OMIM code
223360
ICD10 code
G90.8
ICD11 code
-

No additional description.

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