|
Abnormality of brain morphology
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormality of skin morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute Erythroblastic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Human and murine erythroleukemia cells expressed both erythroid spectrin transcripts in addition to alpha-fodrin and raise the possibility that erythroid progenitors may have the potential to express both erythroid and non-erythroid species.
|
1696273 |
1990 |
|
Adult Erythroleukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Human and murine erythroleukemia cells expressed both erythroid spectrin transcripts in addition to alpha-fodrin and raise the possibility that erythroid progenitors may have the potential to express both erythroid and non-erythroid species.
|
1696273 |
1990 |
|
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 |
|
Atrophy/Degeneration affecting the brainstem
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autoimmune Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
The presence of alpha-fodrin autoantibodies seems to reflect non-organ-specific autoimmunity in primary SS and SLE and to be of limited discriminating value.
|
12673889 |
2003 |
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
|
31515523 |
2019 |
|
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 |
|
Brain atrophy
|
0.040 |
Biomarker
|
disease |
BEFREE |
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
|
29050398 |
2017 |
|
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 |
|
Brain atrophy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
|
22656320 |
2013 |
|
Cerebellar atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cerebral atrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
|
22656320 |
2013 |
|
Cerebral atrophy
|
0.140 |
Biomarker
|
disease |
BEFREE |
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
|
29050398 |
2017 |
|
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 |
|
Cerebral atrophy
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
CNS hypomyelination
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
|
Colorectal Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Knockdown of SPTAN1 in CRC cell lines demonstrated decreased cell viability, impaired cellular mobility and reduced cell-cell contact formation, indicating that SPTAN1 plays an important role in cell growth and cell attachment.
|
30856214 |
2019 |
|
Colorectal Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
In the current study, the interaction of MLH1 and SPTAN1 and its potential consequences for CRC metastasis was evaluated.
|
24456667 |
2014 |
|
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 |
|
Congenital heart block
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
One asymptomatic mother did not demonstrate anti-120 kDa alpha-fodrin activity at the time of the first delivery of a congenital heart block infant, but was found to be positive at the time of subsequent delivery of a second child with cutaneous NLE.
|
9856838 |
1998 |
|
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 |