GPR161 gene related symptoms and diseases

All the information presented here about the GPR161 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GPR161 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Delayed puberty Very Common - Between 80% and 100% cases
Septo-optic dysplasia Very Common - Between 80% and 100% cases
Ectopic posterior pituitary Very Common - Between 80% and 100% cases
Abnormality of the hypothalamus-pituitary axis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GPR161 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Adrenal hypoplasia
  • Diabetes insipidus
  • Primary amenorrhea
  • Hypoplasia of penis
  • Hypotension
  • Hypoglycemia
  • Seizures
  • Jaundice

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GPR161 gene

Here you will find a list of rare diseases related to the GPR161. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PITUITARY STALK INTERRUPTION SYNDROME


Alternate names

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis, ectopic neurohypophysis

Description

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

Most common symptoms of PITUITARY STALK INTERRUPTION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


More info about PITUITARY STALK INTERRUPTION SYNDROME

SOURCES: ORPHANET


Potential gene panels for GPR161 gene

GPR161 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPR161 gene.

More info about this panel


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