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: C0018801
Disease: Heart failure
Heart failure 		0.010 Biomarker disease BEFREE Here, based on pronounced alterations in αII spectrin regulation in human heart failure we tested the <i>in vivo</i> roles of αII spectrin in the vertebrate heart. 31064843 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 Biomarker disease BEFREE Here, based on pronounced alterations in αII spectrin regulation in human heart failure we tested the <i>in vivo</i> roles of αII spectrin in the vertebrate heart. 31064843 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Furthermore, human αII spectrin loss-of-function variants cause neurological disease. 31064843 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 GeneticVariation disease BEFREE Our results further suggest that SPTAN1 may cause autosomal recessive HSP, and that it should be included in genetic screening panels for genetically undiagnosed HSP patients. 31515523 2019
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: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 GeneticVariation disease BEFREE Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. 31332438 2019
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. 31515523 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer. 30856214 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE One may speculate that a deficiency in αII-spectrin plays an important role not only in the DNA repair defect but also in the congenital anomalies observed in Fanconi anemia , particularly since αII-spectrin has been shown to be important in embryonic development in a mouse model. 29557213 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.010 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: 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: 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 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: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.010 GeneticVariation phenotype 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: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.010 GeneticVariation disease BEFREE In conclusion, this report is the first to identify a fusion involving CSF3R and SPTAN1 in aCML with t(1;9)(p34;q34). 29025591 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.010 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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE Nine cancer cell lines as well as fresh and paraffin embedded colon cancer tissue from 12 patients were used in gene expression studies of SPTAN1 and MLH1. 24456667 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE Nine cancer cell lines as well as fresh and paraffin embedded colon cancer tissue from 12 patients were used in gene expression studies of SPTAN1 and MLH1. 24456667 2014
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: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 Biomarker disease BEFREE Among the identified 17 classifier proteins, α-II spectrin was drastically accumulated in infected T cells derived from ATL patients, whereas its digestive protease calpain-2 (CAN2) was significantly downregulated. 23538341 2013
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 Biomarker disease BEFREE Among the identified 17 classifier proteins, α-II spectrin was drastically accumulated in infected T cells derived from ATL patients, whereas its digestive protease calpain-2 (CAN2) was significantly downregulated. 23538341 2013
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. 22258530 2012
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 Biomarker disease BEFREE In the early stage, initial response to self-antigens (LF, CA-II, CA-IV, PSTI, or α-fodrin) or molecular mimicry (Helicobacter pylori) is induced by decreased naive regulatory T cells (Tregs), and Th1 cells release proinflammatory cytokines (IFN-γ, IL-1b, IL-2, and TNF-α). 20862490 2010