Neurodegeneration With Brain Iron Accumulation 2a; Nbia2a
Description
Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).
Genes related to Neurodegeneration With Brain Iron Accumulation 2a; Nbia2a
- PLA2G6
Clinical Features
Top most frequent phenotypes and symptoms related to Neurodegeneration With Brain Iron Accumulation 2a; Nbia2a
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Nystagmus
- Micrognathia
- Strabismus
- Muscular hypotonia
And another 62 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Neurodegeneration With Brain Iron Accumulation 2a; Nbia2a Is also known as inad, neurodegeneration, pla2g6-associated, neuroaxonal dystrophy, infantile, seitelberger disease, inad1, plan.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Neurodegeneration With Brain Iron Accumulation 2a; Nbia2a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.
By Athena Diagnostics Inc (United States).
SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
PLA2G6
Specificity
100 %
Genes
100 % |
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
PLA2G6
Specificity
100 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
You can get up to 103 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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