NBIA3
MCID: NRD008
MIFTS: 56
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Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 3:
Characteristics:Inheritance:
Neurodegeneration with Brain Iron Accumulation 3:
Autosomal dominant 57
Neuroferritinopathy:
Autosomal dominant 58
Prevelance:
Neuroferritinopathy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Neuroferritinopathy:
Adult 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype progressive disorder onset 13 to 63 years of age HPO:30GeneReviews:24
Penetrance Penetrance is 100% [chinnery et al 2007].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases
ICD10:
32
Orphanet: 58
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GARD: 19 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 genetic changes 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 choreoacanthocytosis 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 are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are decreased circulating ferritin concentration and emotional lability MedlinePlus Genetics: 42 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 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. Disease Ontology: 11 A neurodegeneration with brain iron accumulation that has material basis in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. Wikipedia: 75 Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in... more...
GeneReviews:
NBK1141
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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 3:30 58 (show top 50) (show all 61)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:606159 (Updated 08-Dec-2022)UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 3:tremor; abnormality of extrapyramidal motor function; bradykinesia; muscle rigidity; cerebellar ataxia; cerebellar signs GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 3:45
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Drugs for Neurodegeneration with Brain Iron Accumulation 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: neuroferritinopathy |
Organs/tissues related to Neurodegeneration with Brain Iron Accumulation 3:
MalaCards :
Brain,
Cerebellum,
Cortex,
Caudate Nucleus,
Globus Pallidus,
Thalamus,
Eye
ODiseA:
Brain,
Brain-Basal Ganglia,
Brain-Basal Ganglia-Caudate Nucleus,
Brain-Basal Ganglia-Putamen
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Articles related to Neurodegeneration with Brain Iron Accumulation 3:(show top 50) (show all 134)
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ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 3:5 (show top 50) (show all 106)
UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 3:73
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Search
GEO
for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 3.
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Pathways related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:
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Cellular components related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:
Biological processes related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:
Molecular functions related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:
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