Details of Disease

General Information of Disease (ID: DIS0E4F3)

Disease Name Neuroferritinopathy
Synonyms
basal ganglia disease, adult-onset; basal ganglia disease adult-onset; neurodegeneration with brain iron accumulation 3; ferritin-related neurodegeneration; neurodegeneration with brain iron accumulation type 3; adult basal ganglia disease; NBIA3; Neuroferritinopathy; basal ganglia disease, adult-onset; neuroferritinopathy; hereditary ferritinopathy
Definition
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.|Editor note: consider relation to basal ganglia
Disease Hierarchy
DIS6BW88: Huntington disease-like syndrome
DIS372GD: Disorder of iron metabolism and transport
DISRK4DZ: Neurodegeneration with brain iron accumulation
DIS0E4F3: Neuroferritinopathy
Disease Identifiers
MONDO ID
MONDO_0011638
MESH ID
C548080
UMLS CUI
C1853578
OMIM ID
606159
MedGen ID
381211
Orphanet ID
157846
SNOMED CT ID
699299001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLA2G6 OT5FL0WU Limited Biomarker [1]
FA2H OT8HA13U Strong Genetic Variation [2]
FTL OTYQA8A6 Strong Autosomal dominant [3]
FTMT OTIUX6XG Strong Biomarker [4]
JPH3 OTHTJO2I Strong Altered Expression [5]
NGB OTW0SIUY Strong Altered Expression [6]
PANK1 OT2CZVRT Strong Biomarker [1]
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⏷ Show the Full List of 7 DOT(s)

References

1 Rare causes of dystonia parkinsonism.Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0.
2 Iron dysregulation in movement disorders.Neurobiol Dis. 2012 Apr;46(1):1-18. doi: 10.1016/j.nbd.2011.12.054. Epub 2012 Jan 12.
3 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4 Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.Genet Test Mol Biomarkers. 2010 Dec;14(6):793-6. doi: 10.1089/gtmb.2010.0076. Epub 2010 Oct 12.
5 Huntington's disease and Huntington's disease-like syndromes: an overview.Curr Opin Neurol. 2013 Aug;26(4):420-7. doi: 10.1097/WCO.0b013e3283632d90.
6 p53-mediated apoptosis, neuroglobin overexpression, and globin deposits in a patient with hereditary ferritinopathy.J Neuropathol Exp Neurol. 2006 Jul;65(7):716-21. doi: 10.1097/01.jnen.0000228200.27539.19.