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neuroferritinopathy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Uniprot Description A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.
Disease Ontology Description A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
Mondo Term and Equivalent IDs
MONDO:0011638:  neuroferritinopathy
GARD:0010686: 
MESH:C548080: 
Orphanet:157846: 
SCTID:699299001: 
UMLS:C1853578: