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
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
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.610 CausalMutation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.610 Biomarker disease CTD_human
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.610 Biomarker disease GENOMICS_ENGLAND
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.610 GeneticVariation disease CLINVAR
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 GeneticVariation disease BEFREE De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. 29050398 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 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: C0037769
Disease: West Syndrome
West Syndrome
0.460 GeneticVariation disease BEFREE Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 GeneticVariation disease BEFREE By screening SPTAN1 in 95 patients with idiopathic ID, we found a de novo in-frame mutation (p.Q2202del) in the same C-terminal domain in a patient with mild generalized epilepsy and pontocerebellar atrophy, but without IS, hypomyelination, or other brain structural defects, allowing us to define the core phenotype associated with these C-terminal SPTAN1 mutations. 22258530 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 GermlineCausalMutation disease ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 Biomarker disease BEFREE Infantile spasms may be associated with interactions between ATXN2 and the postsynaptic structural proteins MAGI2 and SPTAN1. 21880993 2011
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 GeneticVariation disease BEFREE Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 GermlineCausalMutation disease ORPHANET Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 18065176 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.460 Biomarker disease HPO
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 GeneticVariation disease UNIPROT
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.140 Biomarker disease BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.140 GeneticVariation disease BEFREE Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.140 GeneticVariation disease BEFREE Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. 22429196 2012
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.140 GeneticVariation disease BEFREE Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy. 22258530 2012
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.140 Biomarker disease HPO