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
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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

SOURCES: ORPHANET OMIM

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


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

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

Glucocorticoid Deficiency 2 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MRAP gene.

More info about this panel

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

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

MRAP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MRAP 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

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


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