1. Mendelian
  2. Rare Disease Genes
  3. TRHR

TRHR gene related symptoms and diseases

All the information presented here about the TRHR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TRHR gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases
Feeding difficulties Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRHR gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Constipation
  • Hypothyroidism
  • Coarse facial features
  • Umbilical hernia
  • Sleep disturbance
  • Macroglossia
  • Abnormality of the face
  • Large fontanelles

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TRHR gene

Here you will find a list of rare diseases related to the TRHR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Alternate names

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome, central hypothyroidism due to trh receptor deficiency

Description

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

Most common symptoms of RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

SOURCES: ORPHANET



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