aceruloplasminemia
Findings
No curated finding names aceruloplasminemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Definition from the Mondo Disease Ontology (MONDO:0011426), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- AceruloplasminemiaHPOHP:0025498
- Very frequent (80% to 99% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Very frequent (80% to 99% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- Very frequent (80% to 99% of cases)
- Refractory anemiaHPOHP:0005505
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- Frequent (30% to 79% of cases)
- Decreased circulating copper concentrationHPOHP:0011967
- Frequent (30% to 79% of cases)
Reported absent (2)
- CirrhosisHPOHP:0001394
- Hepatic fibrosisHPOHP:0001395
Show the remaining 28
- Decreased circulating iron concentrationHPOHP:0040303
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Elevated hepatic iron concentrationHPOHP:0012465
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPHGNC:2295
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: aceruloplasminemia
- Also called
- hereditary ceruloplasmin deficiencyhypoceruloplasminemia, hereditary