NBIA
MCID: NRD007
MIFTS: 52
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Neurodegeneration with Brain Iron Accumulation (NBIA)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:
Characteristics:Orphanet epidemiological data:58
neurodegeneration with brain iron accumulation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity , parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia ), neuropsychiatric abnormalities (confusion, disorientation, seizures , stupor, dementia ), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2 , PLA2G6 , C19orf12 , FA2H , ATP13A2 , WDR45 , COASY , FTL , CP and DCAF17 . Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein -associated neurodegeneration (BPAN), caused by mutations in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by mutations in the FTL gene, is inherited in an autosomal dominant manner. There is no cure for NBIA. Treatment is symptomatic, and includes medication such as baclofen , trihexyphenidyl , botulinum toxin , and a procedure known as deep brain stimulation to treat dystonia. Levodopa and anticholinergic drugs may also bring some relief of parkinsonian symptoms. The NBIA Disorders Association has detailed information about NBIA.
MalaCards based summary : Neurodegeneration with Brain Iron Accumulation, also known as nbia, is related to neurodegeneration with brain iron accumulation 6 and neurodegeneration with brain iron accumulation 5. An important gene associated with Neurodegeneration with Brain Iron Accumulation is WDR45 (WD Repeat Domain 45), and among its related pathways/superpathways are Pantothenate and CoA biosynthesis and Neuroscience. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are dystonia and iron accumulation in brain Disease Ontology : 12 A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. NINDS : 53 Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration). Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA. KEGG : 36 Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases. Wikipedia : 74 Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurological... more...
GeneReviews:
NBK121988
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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation:58 31 (show all 10)
GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation:45
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Drugs for Neurodegeneration with Brain Iron Accumulation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Cochrane evidence based reviews: neurodegeneration with brain iron accumulation |
MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation:40
Brain,
Eye,
Globus Pallidus,
Skin,
Bone,
Thalamus,
Subthalamic Nucleus
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Articles related to Neurodegeneration with Brain Iron Accumulation:(show top 50) (show all 417)
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ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:6
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Search
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for disease gene expression data for Neurodegeneration with Brain Iron Accumulation.
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Pathways related to Neurodegeneration with Brain Iron Accumulation according to KEGG:36
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Cellular components related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:
Biological processes related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:
Molecular functions related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:
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