Growth Hormone Deficiency, Isolated Partial; Ghdp

Description

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.

Clinical Features

Phenotypes and symptoms related to Growth Hormone Deficiency, Isolated Partial; Ghdp

  • Short stature
  • Growth delay
  • Midface retrusion
  • Delayed skeletal maturation
  • Hypoglycemia
  • Postnatal growth retardation
  • Delayed puberty
  • Growth hormone deficiency
  • Decreased serum insulin-like growth factor 1
  • Small pituitary gland

Incidence and onset information

Not enough data available about incidence and published cases.


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Growth Hormone Deficiency, Isolated Partial; Ghdp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHR (SS) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GHR
Specificity
100 %
Genes
50 %
Laron Syndrome (GHR mutations).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

GHR
Specificity
100 %
Genes
50 %
GHR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GHR
Specificity
100 %
Genes
50 %
Laron syndrome (sequence analysis of GHR gene).

By CGC Genetics in Portugal.

GHR
Specificity
100 %
Genes
50 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics in Portugal.

APTX, LDLR, LIPA, GHR, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, ABCA1, APOA2, PPP1R17, EPHX2, ITIH4, LRP6
Specificity
7 %
Genes
50 %
Familial Hypercholesterolemia, Autosomal Dominant, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LDLR, GHR
Specificity
50 %
Genes
50 %
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene.

By PreventionGenetics PreventionGenetics in United States.

GHR
Specificity
100 %
Genes
50 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
15 %
Genes
100 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
15 %
Genes
100 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
15 %
Genes
100 %
Hypercholesterolemia, familial.

By Centogene AG - the Rare Disease Company in Germany.

GHR
Specificity
100 %
Genes
50 %
Laron dwarfism.

By Praxis fuer Humangenetik Wien in Austria.

GHR
Specificity
100 %
Genes
50 %
Short stature.

By Praxis fuer Humangenetik Wien in Austria.

GHR
Specificity
100 %
Genes
50 %
Short stature.

By Praxis fuer Humangenetik Wien in Austria.

GHR
Specificity
100 %
Genes
50 %
Laron dwarfism.

By MedGene in Slovakia.

GHR
Specificity
100 %
Genes
50 %
Short stature.

By MedGene in Slovakia.

GHR
Specificity
100 %
Genes
50 %
Short stature.

By MedGene in Slovakia.

GHR
Specificity
100 %
Genes
50 %
Laron syndrome: GHR gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GHR
Specificity
100 %
Genes
50 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
GHR.

By Fulgent Genetics Fulgent Genetics in United States.

GHR
Specificity
100 %
Genes
50 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Laron syndrome.

By Bioarray in Spain.

GHR
Specificity
100 %
Genes
50 %
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HESX1, PROP1, GHRHR, POU1F1, GH1, GHR, LHX4, GHSR
Specificity
25 %
Genes
100 %
GHR Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GHR
Specificity
100 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
GROWTH HORMONE INSENSITIVITY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GHR, STAT5B
Specificity
50 %
Genes
50 %
LARON DWARFISM.

By Laboratorio de Genetica Clinica SL in Spain.

GHR
Specificity
100 %
Genes
50 %
Laron Syndrome, Sequencing GHR Gene.

By Reference Laboratory Genetics in Spain.

GHR
Specificity
100 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Test for Partial Isolated Growth Hormone Deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GHSR
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GHSR
Specificity
100 %
Genes
50 %
GHSR.

By Fulgent Genetics Fulgent Genetics in 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 in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, LHX4, LHX3, GHSR
Specificity
10 %
Genes
50 %
GHSR Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GHSR
Specificity
100 %
Genes
50 %

Alternate names

Growth Hormone Deficiency, Isolated Partial; Ghdp Is also known as ;short stature due to partial growth hormone receptor deficiency.



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