neuroferritinopathy
Findings
No curated finding names neuroferritinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Definition from the Mondo Disease Ontology (MONDO:0011638), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
46 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.
- DystoniaHPOHP:0001332
- 32 of 38 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating ferritin concentrationHPOHP:0012343
- 9 of 11 reported patients · Male
- 3 of 13 reported patients · Female
- Very frequent (80% to 99% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Iron accumulation in brainHPOHP:0012675
- Very frequent (80% to 99% of cases)
- ChoreaHPOHP:0002072
Show the remaining 34
- DysphagiaHPOHP:0002015
- 15 of 38 reported patients
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Eye of the tiger anomaly of globus pallidusHPOHP:0002454
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- 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.
- FTLHGNC:3999
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: neuroferritinopathy
- Also called
- adult basal ganglia diseaseferritin-related neurodegenerationhereditary ferritinopathyNBIA3neurodegeneration with brain iron accumulation type 3