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NBIA6
MCID: NRD016
MIFTS: 37
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Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)
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 6:
Characteristics:Orphanet epidemiological data:59
coasy protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder two unrelated families have been reported (last curated february 2014) onset in early childhood after initial normal development gait difficulties and beginning of cognitive decline in first decade loss of independent ambulation in the second decade HPO:32
neurodegeneration with brain iron accumulation 6:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
34
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OMIM
:
57
Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (615643)
MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 6, also known as nbia6, is related to coasy protein-associated neurodegeneration and neurodegeneration with brain iron accumulation 2b, and has symptoms including oromandibular dystonia, bradykinesia and muscle rigidity. An important gene associated with Neurodegeneration with Brain Iron Accumulation 6 is COASY (Coenzyme A Synthase), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are dysarthria and obsessive-compulsive behavior Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. UniProtKB/Swiss-Prot : 75 Neurodegeneration with brain iron accumulation 6: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615643Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 6:59 32 (show all 25)
UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:oromandibular dystonia, bradykinesia, muscle rigidity, paraparesis, spastic |
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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 6:41
Brain,
Eye,
Globus Pallidus,
Thalamus,
Caudate Nucleus
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Genes related to Neurodegeneration with Brain Iron Accumulation 6 (1 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:75
ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:6 (show all 14)
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Search
GEO
for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 6.
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Cellular components related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:
Biological processes related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:
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