Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormality of the nervous system
Very frequent (80-99%)HP:0000707
Aceruloplasminemia
Very frequent (80-99%)HP:0025498
Hypochromic, microcytic anaemia
Very frequent (80-99%)HP:0004840
Increased ferritin
Very frequent (80-99%)HP:0003281
Refractory anemia
Very frequent (80-99%)HP:0005505
Abnormality of RPE
Frequent (30-79%)HP:0007703
Appendicular ataxia
Frequent (30-79%)HP:0002070
Ataxia
Frequent (30-79%)HP:0001251
Choreiform movements
Frequent (30-79%)HP:0002072
Diabetes mellitus
Frequent (30-79%)HP:0000819
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic movements
Frequent (30-79%)HP:0001332
Elevated hepatic iron concentration
Frequent (30-79%)HP:0012465
Hypoceruloplasminemia
Frequent (30-79%)HP:0010837
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Intellectual impairment
Frequent (30-79%)HP:0100543
Involuntary movements
Frequent (30-79%)HP:0004305
Pigmented macular degeneration
Frequent (30-79%)HP:0000608
Reduced serum copper
Frequent (30-79%)HP:0011967
Retinal degeneration
Frequent (30-79%)HP:0000546
Abnormal corpus striatum morphology
Occasional (5-29%)HP:0010994
Abnormal thalamic MRI signal intensity
Occasional (5-29%)HP:0012696
Abnormality of the dentate nucleus
Occasional (5-29%)HP:0100321
Abnormally shaped pancreas
Occasional (5-29%)HP:0012090
Akinesia
Occasional (5-29%)HP:0002304
Chronic heart failure
Occasional (5-29%)HP:0001635
Distorted craniofacial posture
Occasional (5-29%)HP:0012179
Facial grimacing
Occasional (5-29%)HP:0000273
Involuntary closure of eyelid
Occasional (5-29%)HP:0000643
Related Conditions
Quick Facts
- SNOMED CT
- 124224004
- UMLS CUI
- C0878682
- Fully Specified Name
- Deficiency of ferroxidase (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.