Overview
Gamma-glutamyl transpeptidase 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.
Mental and motor retardation
Always present (100%)HP:0001263
Reduced gamma-glutamyltransferase level
Always present (100%)HP:0034445
Urinary incontinence
Always present (100%)HP:0000020
Elevated circulating glutathione concentration
Very frequent (80-99%)HP:0034456
Glutathione high in urine
Very frequent (80-99%)HP:0034586
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Reduced tissue gamma-glutamyl transpeptidase activity
Very frequent (80-99%)HP:6000578
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Action tremor
Frequent (30-79%)HP:0002345
Bronchial asthma
Frequent (30-79%)HP:0002099
Constipation
Frequent (30-79%)HP:0002019
Dysdiadochokinesis
Frequent (30-79%)HP:0002075
Eczema
Frequent (30-79%)HP:0000964
Heterotopias
Frequent (30-79%)HP:0002282
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Ataxia
Occasional (5-29%)HP:0001251
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties
Occasional (5-29%)HP:0011968
Increased reflexes
Occasional (5-29%)HP:0001347
Squint
Occasional (5-29%)HP:0000486
Tremor
Occasional (5-29%)HP:0001337
Quick Facts
- SNOMED CT
- 78586005
- UMLS CUI
- C0268524
- Fully Specified Name
- Gamma-glutamyl transpeptidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.