Clinical Signs and Symptoms
ORPHA:48818 Aceruloplasminemia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal enzyme/coenzyme activity HP:0012379
- Abnormality of the nervous system HP:0000707
- Aceruloplasminemia HP:0025498
- Hypochromic microcytic anemia HP:0004840
- Increased circulating ferritin concentration HP:0003281
- Refractory anemia HP:0005505
Very frequent
- Abnormality of retinal pigmentation HP:0007703
- Ataxia HP:0001251
- Chorea HP:0002072
- Cognitive impairment HP:0100543
- Decreased circulating copper concentration HP:0011967
- Decreased serum ceruloplasmin HP:0010837
- Decreased serum iron HP:0040303
- Diabetes mellitus HP:0000819
- Dysarthria HP:0001260
- Dystonia HP:0001332
- Elevated hepatic iron concentration HP:0012465
- Gait ataxia HP:0002066
- Involuntary movements HP:0004305
- Limb ataxia HP:0002070
- Macular degeneration HP:0000608
- Retinal degeneration HP:0000546
Frequent
- Abnormal corpus striatum morphology HP:0010994
- Abnormal pancreas morphology HP:0012090
- Abnormal thalamic MRI signal intensity HP:0012696
- Abnormality of the dentate nucleus HP:0100321
- Akinesia HP:0002304
- Apathy HP:0000741
- Blepharospasm HP:0000643
- Congestive heart failure HP:0001635
- Craniofacial dystonia HP:0012179
- Facial grimacing HP:0000273
- Iron accumulation in brain HP:0012675
- Memory impairment HP:0002354
- Nystagmus HP:0000639
- Parkinsonism HP:0001300
- Rigidity HP:0002063
- Torticollis HP:0000473
- Tremor HP:0001337
Occasional
- Cirrhosis HP:0001394
- Hepatic fibrosis HP:0001395
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.