SECISBP2 gene related symptoms and diseases
All the information presented here about the SECISBP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SECISBP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Delayed skeletal maturation | Very Common - Between 80% and 100% cases |
| Increased thyroid-stimulating hormone level | Very Common - Between 80% and 100% cases |
| Abnormality of thyroid physiology | Very Common - Between 80% and 100% cases |
Rare diseases associated to SECISBP2 gene
Here you will find a list of rare diseases related to the SECISBP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
Description
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Most common symptoms of SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
- Short stature
- Growth delay
- Delayed skeletal maturation
- Increased thyroid-stimulating hormone level
- Abnormality of thyroid physiology
More info about SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
Search interest in SECISBP2
Potential gene panels for SECISBP2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Thyroid hormone metabolism, abnormal (sequence analysis of SECISBP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SECISBP2 gene.
More info about this panel Portugal.
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2
More info about this panel United States.
SECISBP2-Related Disorders via SECISBP2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SECISBP2 gene.
More info about this panel United States.
Thyroid hormone metabolism abnormal Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SECISBP2 gene.
More info about this panel Germany.
Hypothyroidism and Thyroid Hormone Resistance Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD
More info about this panel Estonia.
CONGENITAL HYPOTHYROIDISM Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD
More info about this panel Spain.
Thyroid dyshormonogenesis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Thyroid dyshormonogenesis that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4
More info about this panel Spain.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
SECISBP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SECISBP2 gene.
More info about this panel United States.
Hypothyroidism and Resistance to Thyroid Hormone Panel Panel
Finland.
By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5
More info about this panel Finland.
Short Stature-delayed Bone Age due to Thyroid Hormone Metabolism Deficiency , Sequencing SECISBP2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SECISBP2 gene.
More info about this panel Spain.
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4
More info about this panel Spain.
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB IYD NKX2-5
More info about this panel Spain.
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