Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency; Gccd4

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 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 ).

Genes related to Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency; Gccd4

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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

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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.

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 Panel complete gene list RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLCO1B1, SLC22A5, BRAF, SLC22A8, SLC25A3, SLC25A4, SLC2A2, SNTA1, SOS1, SOS2, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, HNF1A, HNF1B, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, KLF11, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, WFS1, XK, ZIC3, ZMPSTE24, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, NEUROG3, ABCG5, ABCG8, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, LMF1, ELAC2, JPH2, ACTC1, IRX3, CALM1, CALM2, KCNK17, CALM3, MRPS22, CRELD1, PCDH15, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, SALL4, TRIM63, MYLK2, ACTN2, LIAS, SCARB1, SLMAP, MRPL44, ZFPM2, NOS1AP, HCN4, TRIB1, SPEG, NEBL, TOPBP1, TAB2, SYNE2, SYNE1, ACVR1, APOA5, ACVR2B, ACVRL1, PERP, GREM2, RANGRF, TRPM4, FKRP, COA6, TXNRD2, CFC1, ZDHHC9, CEL, IER3IP1, FKBP14, LDLRAP1, CETP, ATPAF2, PPP1R13L, CH25H, NPHP4, TBC1D4, MTO1, CHRM2, TNNI3K, EIF2AK4, ADAMTSL4, CITED2, PCSK9, SPRED1, CALR3, UPF3B, INSIG2, CHD7, SCN3B, PDLIM3, SLC39A13, BMP10, AARS2, MIB1, MYLIP, RFX6, ACAD9, ADAMTS2, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COX15, COX6B1, MED13L, MYPN, CPT2, A2ML1, DOLK, CREBBP, PTF1A, CRYAB, CIDEC, CHST14, KANSL1, EHMT1, CSRP3, NKX2-5, GPIHBP1, CTNNA3, CTNNB1, COQ2, MCTP2, TMEM70, FHOD3, CYP2D6, CYP3A4, CYP3A5, FOXRED1, ANO5, RBM20, DES, TMEM43, GLIS3, GPD1L, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, MFAP5, SLC25A40, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, LEFTY2, AGL, EFEMP2, AGPAT2, EIF2AK3, NKX2-6, ELN, EMD, ENG, EP300, CAVIN4, COA5, EVC, EYA4, FAH, FBN1, FBN2, FKTN, FGF12, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, AKT2, FXN, ABCB1, GAA, GATA4, GATA6, GCK, GDF1, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GPD1, AMPD1, GUSB, HAND2, HFE, ANGPTL3, ANK2, ANK3, HNF4A, HRAS, IDH2, ABCC9, ILK, INS, APOC2, INSR, APOC3, FOXP3, PDX1, IRX4, APOE, ISL1, JAG1, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, LZTR1, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, MAP2K1, MAP2K2, MEF2A, KMT2D, MLYCD, ABCG1, MTTP, MYBPC3, MYH11, ASPH, MYH6, MYH7, MYL2, MYL3, MYLK, MYOM1, NEUROD1, NF1, ZFHX3, NNT, NODAL, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPPA, NRAS, OPA3, ATP5F1E, PAX4, ATP7A, PDGFRA, PDHA1, PHKA1, PITX2, PKP2, PKP4, PLIN1, PLN, PLOD1, PMM2, ACADVL, B3GAT3, PPARG, B4GALT7, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, CAVIN1, PYGM, RAF1, RASA1, RASA2 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 Panel complete gene list RYR2, TAZ, TNNC1, TNNI3, TNNT2, TPM1, TTN, PRDM16, ACTC1, CASQ2, LDB3, ANKRD1, ACTN2, HCN4, MIB1, CSRP3, NKX2-5, DMD, DSP, DNAJC19, DTNA, FHL1, FLNC, KCNH2, KCNQ1, LMNA, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, NNT, NOTCH1, PLN, BAG3, PTPN11 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 Panel complete gene list RIT1, MRPL3, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SNTA1, SOS1, SOS2, SURF1, TAZ, TBX20, TBX5, TCAP, TGFB3, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, XK, ACTA1, MYOZ2, GFM1, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, ELAC2, JPH2, ACTC1, IRX3, CALM1, CALM2, KCNK17, CALM3, MRPS22, CAPN3, CASQ2, CAV3, SHOC2, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, TRIM63, MYLK2, ACTN2, LIAS, SLMAP, MRPL44, NOS1AP, HCN4, SPEG, NEBL, SYNE2, SYNE1, PERP, GREM2, RANGRF, TRPM4, FKRP, COA6, TXNRD2, ATPAF2, PPP1R13L, MTO1, CHRM2, TNNI3K, SPRED1, CALR3, SCN3B, PDLIM3, AARS2, MIB1, ACAD9, AGK, COL7A1, COX15, COX6B1, MYPN, A2ML1, DOLK, CRYAB, CSRP3, NKX2-5, CTNNA3, CTNNB1, COQ2, TMEM70, FHOD3, FOXRED1, ANO5, RBM20, DES, TMEM43, GPD1L, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, AGL, AGPAT2, NKX2-6, EMD, CAVIN4, COA5, EYA4, FAH, FKTN, FGF12, FHL1, FHL2, FLNC, AKAP9, FOXD4, FXN, GAA, GATA4, GATA6, GJA1, GJA5, ALMS1, GLA, GLB1, GUSB, HFE, ANK2, ANK3, HRAS, IDH2, ABCC9, ILK, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDLR, LMNA, LZTR1, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYOM1, NF1, ZFHX3, NNT, NOTCH1, NPPA, NRAS, OPA3, ATP5F1E, PDHA1, PHKA1, PITX2, PKP2, PKP4, PLN, PMM2, ACADVL, PRKAG2, BAG3, PSEN1, PSEN2, PTPN11, CAVIN1, RAF1, RASA2 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 Panel complete gene list RIT1, MRPL3, RRAS, RYR2, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SOS1, SOS2, SURF1, TAZ, TBX20, TCAP, TGFB3, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TSFM, MYOT, TTN, TTR, VCL, XK, ACTA1, MYOZ2, GFM1, PRDM16, ELAC2, JPH2, ACTC1, MRPS22, CASQ2, CAV3, SHOC2, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, TRIM63, MYLK2, ACTN2, LIAS, MRPL44, HCN4, SPEG, NEBL, SYNE2, SYNE1, PERP, FKRP, COA6, TXNRD2, ATPAF2, PPP1R13L, MTO1, CHRM2, TNNI3K, SPRED1, CALR3, PDLIM3, AARS2, MIB1, ACAD9, AGK, COL7A1, COX15, COX6B1, MYPN, A2ML1, DOLK, CRYAB, CSRP3, NKX2-5, CTNNA3, CTNNB1, COQ2, TMEM70, FHOD3, FOXRED1, ANO5, RBM20, DES, TMEM43, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, AGL, AGPAT2, EMD, CAVIN4, COA5, EYA4, FAH, FKTN, FHL1, FHL2, FLNC, FOXD4, FXN, GAA, GATA4, GATA6, ALMS1, GLA, GLB1, GUSB, HFE, ANK2, HRAS, IDH2, ABCC9, ILK, JUP, KCNH2, KCNJ2, KCNJ8, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LMNA, LZTR1, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, NF1, NNT, NOTCH1, NRAS, OPA3, ATP5F1E, PDHA1, PHKA1, PKP2, PKP4, PLN, PMM2, ACADVL, PRKAG2, BAG3, PSEN1, PSEN2, PTPN11, RAF1, RASA2 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

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