Growth Hormone Insensitivity, Partial; Ghip

Table of contents:

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

Genes related to Growth Hormone Insensitivity, Partial; Ghip

GHSR
GHR

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Growth Hormone Insensitivity, Partial; Ghip

Short stature
Failure to thrive
Vomiting
Delayed skeletal maturation
Abdominal pain
Hypoglycemia
Delayed puberty
Decreased body weight
Ketosis
Decreased serum insulin-like growth factor 1

And another 1 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.

Growth Hormone Insensitivity, Partial; Ghip Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for Partial Isolated Growth Hormone Deficiency. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). GHSR Specificity 100 % Genes 50 %
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GHSR Specificity 100 % Genes 50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Specificity 1 % Genes 50 %
Short stature with endocrinopathy NGS panel. By Connective Tissue Gene Tests (United States). SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1 Specificity 15 % Genes 100 %
Short stature with endocrinopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1 Specificity 15 % Genes 100 %
Short stature with endocrinopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1 Specificity 15 % Genes 100 %
GHSR. By Fulgent Genetics Fulgent Genetics (United States). GHSR Specificity 100 % Genes 50 %
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children (United States). BTK, LHX4, GH1, GHRHR, GHSR, HESX1, LHX3, OTX2, POU1F1, PROP1 Specificity 10 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

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