Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acute episodes of neuropathic symptoms
HP:0003489
Constipation
HP:0002019
Depressive episode
HP:0000716
Diarrhea
HP:0002014
Elevated heart rate
HP:0001649
Elevated urinary delta-aminolevulinic acid
HP:0003163
Epilepsy
HP:0001250
Excessive, persistent worry and fear
HP:0000739
Gastro pain
HP:0002027
High blood pressure
HP:0000822
Increased incidence of hepatocellular carcinoma
HP:0001402
Muscle weakness
HP:0001324
Nausea
HP:0002018
Painful or difficult urination
HP:0100518
Paralysis
HP:0003470
Paralytic ileus
HP:0002590
Paresthesia
HP:0003401
Psychotic episodes
HP:0000725
Reduced erythrocyte porphobilinogen deaminase activity
HP:4000199
Respiratory paralysis
HP:0002203
Urinary incontinence
HP:0000020
Urinary retention
HP:0000016
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 276263005
- UMLS CUI
- C2936779
- Fully Specified Name
- Porphobilinogen deaminase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.