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Dopamine beta-hydroxylase deficiency

disorder
SNOMED 237923004CUI C0342687

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Clinical Trials

1
Total Trials
0
Recruiting
1
With Results

Recent Trials

Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension

NCT02586623Phase 4Completed453 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated circulating dihydroxyphenylacetic acid concentration
Always present (100%)HP:6000234
Reduced circulating dopamine beta-hydroxylase activity
Always present (100%)HP:6000556
Bilateral ptosis
Very frequent (80-99%)HP:0001488
Decrease in blood pressure upon standing up
Very frequent (80-99%)HP:0001278
Elevated urinary dopamine
Very frequent (80-99%)HP:0011979
Nasal inflammation
Very frequent (80-99%)HP:0012384
Brachydactyly
Frequent (30-79%)HP:0001156
Exercise-induced muscle fatigue
Frequent (30-79%)HP:0009020
Eyelid ptosis
Frequent (30-79%)HP:0000508
High arched palate
Frequent (30-79%)HP:0000218
Hypomagnesemia
Frequent (30-79%)HP:0002917
Hyporeflexia
Frequent (30-79%)HP:0001265
Increased blood urea nitrogen
Frequent (30-79%)HP:0003138
Increased creatinine
Frequent (30-79%)HP:0003259
Joint instability
Frequent (30-79%)HP:0001382
Low blood sugar
Frequent (30-79%)HP:0001943
Low number of red blood cells or hemoglobin
Frequent (30-79%)HP:0001903
Nasal congestion
Frequent (30-79%)HP:0001742
Reduced circulating prolactin concentration
Frequent (30-79%)HP:0008202
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Retrograde ejaculation
Frequent (30-79%)HP:0012877
Seizures
Frequent (30-79%)HP:0001250
Syncope
Frequent (30-79%)HP:0001279
Tiredness
Frequent (30-79%)HP:0012378
Trouble sleeping
Frequent (30-79%)HP:0002360
Weakness of face
Frequent (30-79%)HP:0030319
Blurred vision
Occasional (5-29%)HP:0000622
Chest pain
Occasional (5-29%)HP:0100749
Dehydration
Occasional (5-29%)HP:0001944
Diarrhea
Occasional (5-29%)HP:0002014

Related Conditions

Disorder of catecholamine synthesis(parent)

Quick Facts

SNOMED CT
237923004
UMLS CUI
C0342687
Fully Specified Name
Dopamine beta-hydroxylase deficiency (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
1
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.