Overview
Triose phosphate isomerase 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.
Chronic hemolytic anaemia
Always present (100%)HP:0004870
Jaundice, neonatal
Always present (100%)HP:0006579
Laboured breathing
Always present (100%)HP:0002098
Respiratory failure
Always present (100%)HP:0002878
Abnormality of immune system physiology
Very frequent (80-99%)HP:0010978
Central hypotonia
Very frequent (80-99%)HP:0001252
Central nervous system degeneration
Very frequent (80-99%)HP:0007009
Macrocytic anemia
Frequent (30-79%)HP:0001972
Oligohydramnios
Frequent (30-79%)HP:0001562
Paralysed diaphragm
Frequent (30-79%)HP:0006597
Respiratory function loss
Frequent (30-79%)HP:0002093
Supratentorial atrophy
Frequent (30-79%)HP:0002059
Undergrowth
Frequent (30-79%)HP:0001508
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Decreased nerve conduction velocity
Occasional (5-29%)HP:0000762
Optic disc pallor
Occasional (5-29%)HP:0000543
Chronic heart failure
HP:0001635
Dystonic disease
HP:0001332
Gallbladder inflammation
HP:0001082
Gallstones
HP:0001081
Generalised decreased muscle tone
HP:0001290
Hemolytic anaemia
HP:0001878
Hunched back
HP:0002808
Hyporeflexia
HP:0001265
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Large spleen
HP:0001744
Muscle atrophy, neurogenic
HP:0003202
Muscle weakness
HP:0001324
Myopathy
HP:0003198
Normochromic anaemia
HP:0001895
Related Conditions
Quick Facts
- SNOMED CT
- 234405009
- UMLS CUI
- C1860808
- Fully Specified Name
- Triose phosphate isomerase deficiency (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.