aceruloplasminemia
ICD-10: E83.1MeSH: C536004ORPHA: 48818
Overview
adult-onset disorder of neurodegeneration with brain iron accumulation
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with aceruloplasminemia, sourced from HPO and Orphanet clinical annotations.
Abnormality of the nervous systemIncreased circulating ferritin concentrationHypochromic microcytic anemiaRefractory anemiaAbnormal circulating enzyme concentration or activityAceruloplasminemiaRetinal degenerationMacular degenerationDiabetes mellitusAtaxiaDysarthriaDystoniaGait ataxiaLimb ataxiaChoreaInvoluntary movementsAbnormal retinal pigmentationDecreased circulating ceruloplasmin concentrationDecreased circulating copper concentrationElevated hepatic iron concentrationDecreased circulating iron concentrationCognitive impairmentFacial grimacingTorticollisNystagmusBlepharospasmApathyParkinsonismTremorCongestive heart failureRigidityAkinesiaMemory impairmentAbnormal corpus striatum morphologyAbnormal pancreas morphologyCraniofacial dystoniaIron accumulation in brainAbnormal thalamic MRI signal intensityAbnormal dentate nucleus morphology
Classification & Codes
ICD-10 Code
E83.1MeSH Code
C536004Orphanet Code
ORPHA:48818aceruloplasminemia
| ICD-10 | E83.1 |
| MeSH | C536004 |
| Orphanet | ORPHA:48818 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO