Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

disorder

SNOMED 238007004CUI C0268117

Overview

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Dystonic movements

Frequent (30-79%)HP:0001332

Hyperuricaemia

Frequent (30-79%)HP:0002149

Kidney damage

Frequent (30-79%)HP:0000112

Mental deficiency

Frequent (30-79%)HP:0001249

Acute kidney injury

Occasional (5-29%)HP:0001919

Brain and/or spinal cord issue

Occasional (5-29%)HP:0000707

Extrapyramidal dysfunction

Occasional (5-29%)HP:0002071

Gouty arthritis

Occasional (5-29%)HP:0001997

Increased creatinine

Occasional (5-29%)HP:0003259

Increased reflexes

Occasional (5-29%)HP:0001347

Macroscopic hematuria

Occasional (5-29%)HP:0012587

Mental and motor retardation

Occasional (5-29%)HP:0001263

Painful or difficult urination

Occasional (5-29%)HP:0100518

Seizures

Occasional (5-29%)HP:0001250

Uric acid stones

Occasional (5-29%)HP:0000791

Gout of big toe

HP:0001854

High urine uric acid level

HP:0003149

Kidney stones

HP:0000787

Renal failure in adulthood

HP:0000083

Related Conditions

Deficiency of hypoxanthine-guanine phosphoribosyltransferase(parent)

Quick Facts

SNOMED CT: 238007004
UMLS CUI: C0268117
Fully Specified Name: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.