MC2R gene related symptoms and diseases

All the information presented here about the MC2R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MC2R gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Failure to thrive Very Common - Between 80% and 100% cases
Feeding difficulties Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Hypoglycemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MC2R gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Coma
  • Tall stature
  • Hyperpigmentation of the skin
  • Accelerated skeletal maturation
  • Recurrent hypoglycemia
  • Decreased circulating cortisol level
  • Increased circulating ACTH level
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MC2R gene

Here you will find a list of rare diseases related to the MC2R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL GLUCOCORTICOID DEFICIENCY


Alternate names

FAMILIAL GLUCOCORTICOID DEFICIENCY Is also known as fgd1, familial glucocorticoid deficiency 1, acth resistance, adrenal unresponsiveness to acth

Description

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.

Most common symptoms of FAMILIAL GLUCOCORTICOID DEFICIENCY

  • Seizures
  • Failure to thrive
  • Feeding difficulties
  • Recurrent infections
  • Hypoglycemia


More info about FAMILIAL GLUCOCORTICOID DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for MC2R gene

Glucocorticoid Deficiency 1 (MC2R mutations) Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the MC2R gene.

More info about this panel

MC2R. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MC2R gene.

More info about this panel

Glucocorticoid deficiency type 1 (sequence analysis of MC2R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MC2R gene.

More info about this panel

Glucocorticoid Deficiency 1 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MC2R gene.

More info about this panel

Glucocorticoid deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MC2R gene.

More info about this panel

MC2R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MC2R gene.

More info about this panel

Glucocorticoid Deficiency Panel Panel

Finland.

By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC

More info about this panel

FamilialĀ Glucocorticoid Deficiency (FGD) Syndrome Type 1 , Sequencing MC2R Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MC2R gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FMR3 IGF2R FYCO1 NEBL NT5DC1 MYO1F

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more