Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

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Disease Ontology 12 DOID:0110737 OMIM 58 606159 KEGG 38 H01779 MeSH 45 C548080 D001480 D019150 D019189 more MESH via Orphanet 46 C548080 ICD10 via Orphanet 35 G23.0

UMLS via Orphanet 75 C1853578 Orphanet 60 ORPHA157846 MedGen 43 C1853578 SNOMED-CT via HPO 70 103252009 14760008 16046003 18963009 221360009 22325002 225595004 228156007 246586009 247578003 247977003 248149005 252157006 255314001 25786006 26079004 263681008 271700006 277843001 281411007 288939007 32798002 3331000119108 366575004 397790002 399317006 40739000 43105007 45007003 47004009 48257004 49386006 52008007 52448006 59026006 609225004 62305002 76976005 8011004 85102008 86854008 88052002 91138005 95695004 9748009 more UMLS 74 C1853578

NIH Rare Diseases : ⁵⁴ Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 3, also known as neuroferritinopathy, is related to neurodegeneration with brain iron accumulation and movement disease, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 3 is FTL (Ferritin Light Chain), and among its related pathways/superpathways is Ferroptosis. Affiliated tissues include brain, cerebellum and eye, and related phenotypes are chorea and spastic diplegia

Disease Ontology : ¹² A neurodegeneration with brain iron accumulation that has material basis in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.

Genetics Home Reference : ²⁶ Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria).

OMIM : ⁵⁸ Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009). (606159)

UniProtKB/Swiss-Prot : ⁷⁶ Neurodegeneration with brain iron accumulation 3: 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.

GeneReviews: NBK1141

Clinical features from OMIM:

606159

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 3

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 3.