Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

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Disease Ontology 12 DOID:0110737 OMIM® 57 606159 OMIM Phenotypic Series 57 PS234200 KEGG 36 H01779 MeSH 44 C548080 D001480 D019150 D019189 more SNOMED-CT 67 699299001 MESH via Orphanet 45 C548080

ICD10 via Orphanet 33 G23.0 UMLS via Orphanet 71 C1853578 Orphanet 58 ORPHA157846 MedGen 41 C1853578 SNOMED-CT via HPO 68 16046003 18963009 221360009 228158008 246586009 247977003 248149005 25082004 252157006 255314001 26079004 263681008 271700006 278857002 288939007 32798002 3331000119108 34527004 366575004 397790002 399317006 40739000 43105007 441913003 44564008 47004009 48257004 49386006 52008007 59026006 69322001 8011004 85102008 8614008 86854008 88052002 9366002 9748009 more UMLS 70 C1853578

GARD : ²⁰ 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 hemosiderosis and choreoacanthocytosis, 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 are Insulin receptor recycling and Glucose / Energy Metabolism. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are decreased circulating ferritin concentration and emotional lability

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.

MedlinePlus Genetics : ⁴³ 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).Intelligence is unaffected in most people with neuroferritinopathy, 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.

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

KEGG : ³⁶ Neuroferritinopathy is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 20-May-2021)

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.