Overview
Blood group deletion syndrome 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.
Acanthocytosis
Always present (100%)HP:0001927
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Absent Achilles reflex
Very frequent (80-99%)HP:0003438
Choreatic disease
Very frequent (80-99%)HP:0002072
Increased lactate dehydrogenase level
Very frequent (80-99%)HP:0025435
Myopathy
Very frequent (80-99%)HP:0003198
Reduced haptoglobin level
Very frequent (80-99%)HP:0020181
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Areflexia of upper limbs
Frequent (30-79%)HP:0012046
Decreased vibration sense in feet
Frequent (30-79%)HP:0006938
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic disease
Frequent (30-79%)HP:0001332
Elevated gamma-glutamyltransferase level
Frequent (30-79%)HP:0030948
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Enlarged liver
Frequent (30-79%)HP:0002240
Epilepsy
Frequent (30-79%)HP:0001250
Large spleen
Frequent (30-79%)HP:0001744
Muscle weakness
Frequent (30-79%)HP:0001324
Breakdown of skeletal muscle
Occasional (5-29%)HP:0003201
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Quivering upper heart chambers resulting in irregular heartbeat
Occasional (5-29%)HP:0005110
Stretched and thinned heart muscle
Occasional (5-29%)HP:0001644
Depressive episode
HP:0000716
Dyskinesia
HP:0100660
Excessive, persistent worry and fear
HP:0000739
Generalised-onset seizure
HP:0002197
Length dependent motor neuropathy
HP:0007002
OCD
HP:0000722
Personality disorder
HP:0012075
Related Conditions
Quick Facts
- SNOMED CT
- 234411007
- UMLS CUI
- C0398568
- Fully Specified Name
- Blood group deletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.