Clinical Trials
1
Total Trials
0
Recruiting
1
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
2,8-dihydroxyadenine crystalluria
Always present (100%)HP:0034279
Abdominal discomfort
Always present (100%)HP:0002027
Blood in urine
Always present (100%)HP:0000790
Increased creatinine
Always present (100%)HP:0003259
Metabolic acidosis
Always present (100%)HP:0001942
Urolithiasis
Always present (100%)HP:0034368
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Acute kidney injury
Frequent (30-79%)HP:0001919
CKD
Frequent (30-79%)HP:0012622
Dull burning sensation with urination
Frequent (30-79%)HP:0100518
High blood pressure
Frequent (30-79%)HP:0000822
Kidney stones
Frequent (30-79%)HP:0000787
Proteinuria
Frequent (30-79%)HP:0000093
Renal failure
Frequent (30-79%)HP:0000083
Abdominal colic
Occasional (5-29%)HP:0011848
End-stage renal disease
Occasional (5-29%)HP:0003774
Kidney pain
Occasional (5-29%)HP:0030157
Macroscopic hematuria
Occasional (5-29%)HP:0012587
Oliguria
Occasional (5-29%)HP:0100520
Quivering upper heart chambers resulting in irregular heartbeat
Occasional (5-29%)HP:0005110
Repeated bladder infections
Occasional (5-29%)HP:0000010
Uric acid stones
Occasional (5-29%)HP:0000791
Urinary hesitancy
Occasional (5-29%)HP:0000019
Urinary retention
Occasional (5-29%)HP:0000016
Elevated urinary 2,8-dihydroxyadenine level
HP:6000803
Quick Facts
- SNOMED CT
- 124274002
- UMLS CUI
- C0268120
- Fully Specified Name
- Deficiency of adenine phosphoribosyltransferase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
- 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.