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NBIA4
MCID: NRD014
MIFTS: 41
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Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)
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 4:
Characteristics:Orphanet epidemiological data:58
mitochondrial membrane protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult,young Adult; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
variable phenotype progressive disorder later onset has been reported onset usually in first decade some patients may become wheelchair-bound de novo heterozygous mutation in exon 3 follow autosomal dominant inheritance HPO:31
neurodegeneration with brain iron accumulation 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases |
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OMIM® :
57
Neurodegeneration with brain iron accumulation-4 (NBIA4) is a neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012). Both autosomal recessive and autosomal dominant inheritance have been reported (see INHERITANCE and MOLECULAR GENETICS).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (614298) (Updated 20-May-2021)
MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 4, also known as nbia4, is related to spastic paraplegia 43, autosomal recessive and neurodegeneration with brain iron accumulation, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. An important gene associated with Neurodegeneration with Brain Iron Accumulation 4 is C19orf12 (Chromosome 19 Open Reading Frame 12). Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are global developmental delay and cerebellar atrophy Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. UniProtKB/Swiss-Prot : 72 Neurodegeneration with brain iron accumulation 4: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. |
Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 4:31 58 (show all 47)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:614298 (Updated 20-May-2021)UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 4:ataxia; tremor; abnormality of extrapyramidal motor function; oromandibular dystonia; muscle spasticity; abnormal pyramidal signs |
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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 4:40
Brain,
Eye,
Globus Pallidus,
Spinal Cord
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Articles related to Neurodegeneration with Brain Iron Accumulation 4:(show all 24)
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Genes related to Neurodegeneration with Brain Iron Accumulation 4 (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:6 (show top 50) (show all 160)
UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:72 (show all 14)
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Search
GEO
for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 4.
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