Glucocorticoid Deficiency 2; Gccd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Glucocorticoid Deficiency 2; Gccd2

MRAP

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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.

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 Panel complete gene list BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2, SLC5A5, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX10, SOX2, SOX3, ATL1, SPR, SPTAN1, SPTLC1, STAT5B, CDKL5, STX11, STXBP1, SUCLG1, BUB1B, SYNGAP1, SYP, TBCE, TBX1, TGIF1, TH, THRB, TINF2, TSPAN7, ACOX1, TSC1, TSC2, CEP41, TTR, TUBA8, TWIST1, UBE2A, UBE3A, USP9X, VLDLR, WRN, XIST, ZIC2, ZBTB16, MRAP, FTSJ1, HDAC8, MCOLN1, NSDHL, GFM1, CNTNAP2, ABCG5, CACNG2, HDAC4, PCDH19, NLGN3, SHANK3, SHANK2, IRX5, NHP2, ELOVL4, NPC2, COG5, ZEB2, CASK, MBTPS2, CBS, NDUFAF5, SAMHD1, PCNT, UPB1, RAB39B, HAX1, PRICKLE1, CPA6, BRWD3, TPK1, CDH15, ACY1, PDSS1, CDKN1C, FKRP, ARID1B, ARX, TMCO1, ATP6AP2, ZDHHC9, COG7, ZFP57, CAMTA1, ASPM, POMGNT1, KIF21A, ALG12, CHRNA4, LYST, CANT1, POMT2, CCDC88C, SLC35C1, UPF3B, MBD5, BRIP1, CHD7, PHF8, TPH2, CLN3, ZFYVE26, TUBA1A, TUBB3, ZBTB24, PDHX, RFX6, AHI1, SATB2, VPS13B, KCTD7, COL1A2, ADAR, CP, GNPTG, LMBRD1, SYT14, ALG6, KIRREL3, PIGO, CRADD, TTC37, MED23, MED17, SLX4, GLYCTK, WDR62, FAM126A, SIL1, EHMT1, FTO, G6PC3, TMEM216, CTNNB1, MMADHC, RAB40AL, DARS2, CUL4B, OFD1, NHEJ1, SRD5A3, NSUN2, PIGV, CYP27A1, TMEM70, CTC1, HEPACAM, UROC1, WDR81, AMER1, DBT, XPNPEP3, D2HGDH, TMEM67, MFSD8, DHCR24, DHCR7, CYB5R3, NIPBL, MAGT1, DLG3, CEP290, IQSEC2, ADSL, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, DYNC1H1, MTFMT, GNPTAB, BBS9, DPYD, CRBN, ATP13A2, CC2D1A, TUSC3, KIF7, SLC46A1, SNIP1, STRA6, SRPX2, TMEM165, CEP57, TUBB2B, TRAPPC9, HUWE1, DYRK1A, EBP, AFP, AGL, EFNB1, ALG11, AGTR2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, F5, ACSL4, FANCG, FBLN5, FBN1, FBN2, FKTN, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FMR1, AFF2, FOXG1, FOXP1, ALDH4A1, GABRG2, GALE, GAMT, GAN, GBA, GBE1, GCK, GDI1, GFAP, GHR, GLI3, GLRA1, GLUL, GM2A, GNAS, GNPAT, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSS, GUSB, GYS2, HSD17B10, HEXB, HOXD10, HPD, HSPD1, IDS, IGBP1, IGF1, IGF1R, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, INSR, ABCD1, ITGA7, KCNJ10, KCNJ11, KCNK9, KCNQ2, KIF5A, KIF11, AQP7, KRAS, AR, L1CAM, LAMA2, LAMP2, LARGE1, LBR, LHX3, LIG4, ARG1, LRP5, MAN1B1, MAN2B1, MANBA, ARHGEF6, MAPT, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MGAT2, MKKS, MOCS2, MPI, MPZ, MTHFR, MTR, MYCN, ASS1, MYO5A, MYO7A, NAGA, NBN, NDP, NDUFA1, NDUFS1, NF1, NGF, NPC1, NPHP3, ATM, ATP1A2, NRXN1, OPHN1, ORC1, PAFAH1B1, PAH, PAK3, PAX6, ATP7A, AIFM1, PDE4D, ATRX, PEX7, KIF1A, PGK1, AUH, PHKA2, PHKG2, AVP, PIGL, AVPR2, PLA2G6, PLP1, POMT1, POU1F1, CTSA, PPOX, ACAT1, PQBP1, PRKAR1A, PRSS12, PTEN, PTPN11, PYCR1, ALDH18A1, PYGL, RAI1, RAPSN, RBBP8, RBM10 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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