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: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 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 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 Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457 2010
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 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: 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 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: 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
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: 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: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease CLINVAR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.040 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: C4551584
Disease: Brain atrophy
Brain atrophy 		0.040 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: C4551584
Disease: Brain atrophy
Brain atrophy 		0.040 GeneticVariation disease BEFREE Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
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: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 GeneticVariation disease BEFREE The frequency of alpha-fodrin autoantibodies detected by this method is similar in sera from primary SS patients and SLE patients with or without secondary SS. 12673889 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. 30548380 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease BEFREE There is evidence that the Psh BI SPTAN1 gene polymorphism does not play a major role in the genetic component of schizophrenia. 10402491 1999