Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency; Gccd4

Description

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency; Gccd4

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy
  • Vomiting
  • Hypothyroidism
  • Hypoglycemia
  • Hypertrophic cardiomyopathy
  • Coma

And another 16 symptoms. If you need more information about this disease we can help you.

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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.

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 4 With Or Without Mineralocorticoid Deficiency; Gccd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

View the complete list with 351 more genes
Specificity
1 %
Genes
100 %
Non-compaction cardiomyopathy.

By Health in Code (Spain).

RYR2, TAZ, TNNC1, TNNI3, TNNT2, TPM1, TTN, PRDM16, ACTC1, CASQ2, LDB3, ANKRD1, ACTN2, HCN4, MIB1, CSRP3, NKX2-5, DMD, DSP, DNAJC19 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SNTA1, SOS1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR2, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SOS1, SOS2, SURF1, TAZ, TBX20, TCAP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
NNT.

By Fulgent Genetics Fulgent Genetics (United States).

NNT
Specificity
100 %
Genes
100 %
Glucocorticoid Deficiency Panel.

By Blueprint Genetics (Finland).

STAR, MRAP, MC2R, NNT, NR3C1, POMC
Specificity
17 %
Genes
100 %
CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

TAZ, TNNT2, TPM1, PRDM16, ACTC1, LDB3, ACTN2, HCN4, MIB1, CSRP3, PLEKHM2, DTNA, LMNA, MYBPC3, MYH7, NNT
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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