TRH gene related symptoms and diseases
All the information presented here about the TRH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Delayed skeletal maturation | Very Common - Between 80% and 100% cases |
| Constipation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TRH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypothyroidism
- Dry skin
- Amenorrhea
- Hoarse voice
- Secondary amenorrhea
- Hypothalamic hypothyroidism
Rare diseases associated to TRH gene
Here you will find a list of rare diseases related to the TRH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY
Alternate names
ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY Is also known as hypothalamic hypothyroidism, isolated prothyroliberin deficiency, isolated protirelin deficiency, isolated trf deficiency, isolated tsh-releasing factor deficiency, trh deficiency, isolated thyroliberin deficiency, isolated thyrotropin-releasing factor deficienc
Most common symptoms of ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY
- Intellectual disability
- Short stature
- Muscle weakness
- Delayed skeletal maturation
- Constipation
More info about ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY
Search interest in TRH
Potential gene panels for TRH gene
TRH mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the TRH gene.
More info about this panel Netherlands.
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.
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TRH gene.
More info about this panel United States.
TRH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRH gene.
More info about this panel United States.
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