SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		0.300 Biomarker group CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659 2014
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		0.300 Biomarker group CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659 2014
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.010 GeneticVariation disease BEFREE Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 25779878 2015
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 Biomarker disease BEFREE Autoantibodies to alpha-fodrin in primary Sjögren's syndrome and SLE detected by an in vitro transcription and translation assay. 12673889 2003
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. 25631096 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Although some of these patients' features are consistent with the known SPTAN1 encephalopathy phenotype, these two children do not have epilepsy, in contrast to reports about nearly every other patient with heterozygous SPTAN1 variants and in all patients with a variant near the C-terminal coding region. 30548380 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease CLINVAR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 Biomarker disease BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. 30548380 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 CausalMutation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. 25631096 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease BEFREE Critical roles of αII spectrin in brain development and epileptic encephalopathy. 29337302 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. 29897043 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 CausalMutation disease CLINVAR
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 AlteredExpression disease BEFREE Overexpression of human EIEE5 mutant SPTAN1 in embryonic rat forebrain and mouse hippocampal neurons led to similar developmental defects that were also observed in EIEE5 patient-derived neurons. 29337302 2018
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease CTD_human
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease GENOMICS_ENGLAND Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457 2010
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 GeneticVariation disease CLINVAR
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		0.010 AlteredExpression disease BEFREE Human and murine erythroleukemia cells expressed both erythroid spectrin transcripts in addition to alpha-fodrin and raise the possibility that erythroid progenitors may have the potential to express both erythroid and non-erythroid species. 1696273 1990
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 AlteredExpression disease LHGDN Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. 12893251 2003