Glucocorticoid Deficiency 2; Gccd2

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 ).

Clinical Features

Phenotypes and symptoms related to Glucocorticoid Deficiency 2; Gccd2

  • Hypoglycemia
  • Hyperpigmentation of the skin
  • Recurrent hypoglycemia
  • Decreased circulating cortisol level
  • Increased circulating ACTH level

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Glucocorticoid Deficiency 2; Gccd2 Is also known as familial glucocorticoid deficiency 2, fgd2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Glucocorticoid Deficiency 2; Gccd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MRAP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MRAP
Specificity
100 %
Genes
100 %
Glucocorticoid deficiency type 2 (sequence analysis of MRAP gene).

By CGC Genetics (Portugal).

MRAP
Specificity
100 %
Genes
100 %
Glucocorticoid Deficiency 2.

By Bioscientia GmbH Center for Human Genetics (Germany).

MRAP
Specificity
100 %
Genes
100 %
Glucocorticoid deficiency type 2.

By Centogene AG - the Rare Disease Company (Germany).

MRAP
Specificity
100 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)

View the complete list with 367 more genes
Specificity
1 %
Genes
100 %
MRAP.

By Fulgent Genetics Fulgent Genetics (United States).

MRAP
Specificity
100 %
Genes
100 %
Glucocorticoid Deficiency Panel.

By Blueprint Genetics (Finland).

STAR, MRAP, MC2R, NNT, NR3C1, POMC
Specificity
17 %
Genes
100 %
Familial Glucocorticoid Deficiency (FGD) Syndrome Type 2 , Sequencing MRAP Gene.

By Reference Laboratory Genetics (Spain).

MRAP
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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