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: 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: 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: 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
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: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.100 Biomarker disease HPO
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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease BEFREE Such investigations should help unravel the complexities of αII-spectrin's interactions with other nuclear proteins and enhance our understanding of the pathogenesis of disorders, such as Fanconi anemia , in which there is a deficiency in αII-spectrin. 29557213 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease LHGDN alphaII-Spectrin interacts with five groups of functionally important proteins in the nucleus. 16889989 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease LHGDN The SH3 domain of alphaII spectrin is a target for the Fanconi anemia protein, FANCG. 19102630 2009
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 Biomarker disease BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
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: 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: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 Biomarker disease BEFREE Analysis of in vivo role of alpha-fodrin autoantigen in primary Sjogren's syndrome. 16192640 2005
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 Biomarker disease BEFREE IgG antibodies to a cleavage product of alpha-fodrin (120 kDa alpha-fodrin) have recently been identified as organ-specific autoantibodies in primary Sjögren's syndrome. 9856838 1998