MRAP gene related symptoms and diseases
All the information presented here about the MRAP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MRAP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypoglycemia | Very Common - Between 80% and 100% cases |
| Hyperpigmentation of the skin | Very Common - Between 80% and 100% cases |
| Recurrent hypoglycemia | Very Common - Between 80% and 100% cases |
| Decreased circulating cortisol level | Very Common - Between 80% and 100% cases |
| Increased circulating ACTH level | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MRAP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Seizures
- Failure to thrive
- Feeding difficulties
- Recurrent infections
- Coma
- Tall stature
- Accelerated skeletal maturation
Rare diseases associated to MRAP gene
Here you will find a list of rare diseases related to the MRAP. 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
GLUCOCORTICOID DEFICIENCY 2; GCCD2
Alternate names
GLUCOCORTICOID DEFICIENCY 2; GCCD2 Is also known as familial glucocorticoid deficiency 2, fgd2
Description
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).
Most common symptoms of GLUCOCORTICOID DEFICIENCY 2; GCCD2
- Hypoglycemia
- Hyperpigmentation of the skin
- Recurrent hypoglycemia
- Decreased circulating cortisol level
- Increased circulating ACTH level
More info about GLUCOCORTICOID DEFICIENCY 2; GCCD2
SOURCES: OMIM
Search interest in MRAP
Potential gene panels for MRAP gene
MRAP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MRAP gene.
More info about this panel Spain.
Glucocorticoid deficiency type 2 (sequence analysis of MRAP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MRAP gene.
More info about this panel Portugal.
Glucocorticoid Deficiency 2 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MRAP gene.
More info about this panel Germany.
Glucocorticoid deficiency type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MRAP gene.
More info about this panel Germany.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
MRAP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MRAP gene.
More info about this panel United States.
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 Finland.
Familial Glucocorticoid Deficiency (FGD) Syndrome Type 2 , Sequencing MRAP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MRAP gene.
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HPSE2 BGN HIBCH EML1 KLF1 MBD5 ARSA