Thyroid Hormone Metabolism, Abnormal
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism.
|
29882503 |
2018 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
Biomarker
|
disease |
BEFREE |
Individuals with inherited defects in selenocysteine insertion sequence (SECIS)-binding protein 2 display a syndrome of selenoprotein-related defects including abnormal thyroid hormone metabolism, delayed bone maturation, and other more individual phenotypes.
|
21670677 |
2011 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
|
21084748 |
2010 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
|
19602558 |
2009 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Thyroid Hormone Metabolism, Abnormal
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Growth Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
|
19602558 |
2009 |
Amino Acid Metabolism, Inborn Errors
|
0.300 |
Biomarker
|
group |
CTD_human |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Amino Acid Metabolism, Inherited Disorders
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
16228000 |
2005 |
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Short stature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Delayed bone age
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Raised TSH level
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Malnutrition
|
0.020 |
Biomarker
|
disease |
BEFREE |
Partial SBP2 deficiency syndrome manifests characteristic thyroid function tests.
|
31826256 |
2019 |
Myopathy
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Mutations in SBP2 impinge on biosynthesis of a subset of selenoproteins and lead to a syndrome including hormonal, neurological, immunological symptoms as well as myopathy.
|
22708491 |
2012 |
Myopathy
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Pathologically, reduced expression of selenoproteins has been directly linked with the congenital muscle disease referred to as selenoprotein N (SEPN)-related myopathy and with thyroid-hormone metabolism defects (deficiency of deiodinases due to genetic defects in SBP2).
|
19905883 |
2010 |
Malnutrition
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
|
21084748 |
2010 |
Degenerative polyarthritis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
There was lower GPX1 and GPX4 mRNA expression and SBP2 protein expression in damaged cartilage than in smooth cartilage from the same OA sample, and hsa-miR-181a-5p expression on the contrary.
|
30286747 |
2018 |
Selenium deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Their inferred Sec incorporation efficiencies did not correlate well with their SECIS-SBP2 binding affinities, suggesting the existence of additional factors determining the hierarchy of selenoprotein synthesis under selenium deficiency.
|
28178267 |
2017 |