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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.110 GeneticVariation disease BEFREE In five subjects, deletions include SPTAN1, previously associated with early infantile epileptic encephalopathy, infantile spasms, intellectual disability, and hypomyelination. 22722545 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.110 GeneticVariation disease CLINVAR
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 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 Biomarker disease HPO
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 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 GermlineCausalMutation disease ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487 2012
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 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: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE To investigate the link between MLH1 and SPTAN1 in cancer progression, a cohort of 189 patients with CRC was analyzed by immunohistochemistry. 30856214 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Further, a prophage gene, STM2699, induced in cold-stressed Salmonella and a spectrin gene, SPTAN1, induced in Salmonella-infected intestinal epithelial cells were found to have a significant contribution in increased adhesion and invasion of cold-stressed Salmonella in epithelial cells. 25192993 2014
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 AlteredExpression disease BEFREE This study suggests the possible role of decreased levels of αII-spectrin in the pathology of tuberculosis. 24055022 2013
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		0.010 GeneticVariation group BEFREE Moreover, both children have abnormal thyroid function, which has not been previously reported in association with SPTAN1 variant. 30548380 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.010 Biomarker disease BEFREE Evaluation of alpha-II-spectrin breakdown products as potential biomarkers for early recognition and severity of aneurysmal subarachnoid hemorrhage. 30190542 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE Alpha-II spectrin, Na/K-ATPase and KIAA0111 are those that are enhanced in intestinal type of gastric cancer. 12127692 2002
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.030 Biomarker disease LHGDN Analysis of in vivo role of alpha-fodrin autoantigen in primary Sjogren's syndrome. 16192640 2005
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.030 Biomarker disease BEFREE Clinical and immunological characteristics of patients with Sjögren's syndrome in relation to alpha-fodrin antibodies. 16935916 2007
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.030 Biomarker disease LHGDN The role of caspase cascade on the development of primary Sjögren's syndrome. 12630566 2003
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 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: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE This report supports the causative relationship between SPTAN1 mutations and early onset intractable seizures with severe hypomyelination and widespread brain volume reduction. 22429196 2012