Overview
Hyperprolinemia type 2 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.
Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity
Always present (100%)HP:6000695
Abnormal cerebrospinal fluid morphology
Very frequent (80-99%)HP:0002921
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Behavioural disorders
Very frequent (80-99%)HP:0000708
Elevated urinary hydroxyproline
Very frequent (80-99%)HP:0003080
Epilepsy
Very frequent (80-99%)HP:0001250
Hyperprolinemia
Very frequent (80-99%)HP:0008358
Increased urine alpha-ketoglutarate concentration
Very frequent (80-99%)HP:0012402
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental deficiency
Very frequent (80-99%)HP:0001249
Proline high in urine
Very frequent (80-99%)HP:0003137
Chronic extreme exhaustion
Frequent (30-79%)HP:0012432
EEG with generalised sharp slow waves
Frequent (30-79%)HP:0011199
Elevated csf protein
Frequent (30-79%)HP:0002922
Generalised-onset seizure
Frequent (30-79%)HP:0002197
Hyperalaninemia
Frequent (30-79%)HP:0003348
Hyperglycinemia
Frequent (30-79%)HP:0002154
Muscle spasm
Frequent (30-79%)HP:0003394
Poor exercise tolerance
Frequent (30-79%)HP:0003546
Reduced vitamin b6 levels
Frequent (30-79%)HP:0008326
Speech difficulties
Frequent (30-79%)HP:0000750
Trouble sleeping
Frequent (30-79%)HP:0002360
Unsteady walk
Frequent (30-79%)HP:0002317
Absent deep tendon reflexes
Occasional (5-29%)HP:0001284
Aggression
Occasional (5-29%)HP:0000718
Anxiety disease
Occasional (5-29%)HP:0000739
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Confusion
Occasional (5-29%)HP:0001289
Deglutition disorder
Occasional (5-29%)HP:0002015
Depressive episode
Occasional (5-29%)HP:0000716
Related Conditions
Quick Facts
- SNOMED CT
- 717181004
- UMLS CUI
- C2931835
- Fully Specified Name
- Hyperprolinemia type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.