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
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
Search interest in MC2R
Potential gene panels for MC2R gene
Glucocorticoid Deficiency 1 (MC2R mutations) Panel
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the MC2R gene.
More info about this panelMC2R. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MC2R gene.
More info about this panelGlucocorticoid deficiency type 1 (sequence analysis of MC2R gene) Panel
By CGC Genetics
This panel specifically test the MC2R gene.
More info about this panelGlucocorticoid Deficiency 1 Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MC2R gene.
More info about this panelGlucocorticoid deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MC2R gene.
More info about this panelMC2R Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MC2R gene.
More info about this panelGlucocorticoid Deficiency Panel Panel
By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC
More info about this panelFamilial Glucocorticoid Deficiency (FGD) Syndrome Type 1 , Sequencing MC2R Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MC2R gene.
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