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NBIA5
MCID: NRD032
MIFTS: 46
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Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)
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 5:
Characteristics:Orphanet epidemiological data:60
beta-propeller protein-associated neurodegeneration
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:58
Miscellaneous:
de novo mutation onset in infancy or early childhood disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline affected males are somatic mosaic for mutations motor symptoms show mild clinical improvement with levodopa treatment patients are severely disabled as adults
Inheritance:
x-linked dominant HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Eye diseases
ICD10:
34
35
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OMIM
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58
NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by Haack et al., 2012 and Saitsu et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (300894)
MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 5, also known as beta-propeller protein-associated neurodegeneration, is related to neurodegeneration with brain iron accumulation and anorexia nervosa, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 5 is WDR45 (WD Repeat Domain 45), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are abnormality of eye movement and intellectual disability Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. Genetics Home Reference : 26 Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease. NIH Rare Diseases : 54 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation. This disorder presents with global developmental delay in childhood which becomes progressive in early adulthood. Symptoms include 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), and cognitive decline. BPAN is caused by mutations in the WDR45 gene. It is inherited in a dominant X-linked manner. Treatment is aimed at addressing the symptoms found in each individual. UniProtKB/Swiss-Prot : 76 Neurodegeneration with brain iron accumulation 5: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.
GeneReviews:
NBK424403
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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 5:60 33 (show all 25)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300894UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 5:tremor, abnormality of extrapyramidal motor function, bradykinesia, muscle rigidity, paraparesis, spastic |
Drugs for Neurodegeneration with Brain Iron Accumulation 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 5:42
Brain,
Globus Pallidus,
Eye
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Articles related to Neurodegeneration with Brain Iron Accumulation 5:(show all 28)
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Genes related to Neurodegeneration with Brain Iron Accumulation 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 5:6 (show top 50) (show all 94)
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Search
GEO
for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 5.
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Cellular components related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:
Biological processes related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:
Molecular functions related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:
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