GHR gene related symptoms and diseases
All the information presented here about the GHR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GHR gene
Symptoms // Phenotype | % Cases |
---|---|
Delayed puberty | Common - Between 50% and 80% cases |
Delayed skeletal maturation | Common - Between 50% and 80% cases |
Hypoglycemia | Common - Between 50% and 80% cases |
Short stature | Common - Between 50% and 80% cases |
Hypercholesterolemia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GHR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Truncal obesity
- Prematurely aged appearance
- Underdeveloped supraorbital ridges
- Abnormality of the elbow
- Hypoplastic nasal bridge
- Intellectual disability
- Small pituitary gland
- Growth delay
And 68 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GHR gene
Here you will find a list of rare diseases related to the GHR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LARON SYNDROME
Alternate names
LARON SYNDROME Is also known as complete growth hormone insensitivity, primary growth hormone insensitivity, gh receptor deficiency, growth hormone receptor deficiency, laron-type dwarfism, short stature due to growth hormone resistance, pituitary dwarfism ii, primary growth hormone resistance
Description
Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
Most common symptoms of LARON SYNDROME
- Intellectual disability
- Micrognathia
- Abnormal facial shape
- Motor delay
- Brachydactyly
More info about LARON SYNDROME
SOURCES: ORPHANET
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Alternate names
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect, laron syndrome due to postreceptor defect
Most common symptoms of GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Growth delay
More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
SOURCES: OMIM
HYPERCHOLESTEROLEMIA, FAMILIAL
Alternate names
HYPERCHOLESTEROLEMIA, FAMILIAL Is also known as fh, ldl receptor disorder, hyper-low-density-lipoproteinemia, hypercholesterolemic xanthomatosis, familial, fhc, hyperlipoproteinemia, type iia, hyperlipoproteinemia, type ii
Description
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).
Most common symptoms of HYPERCHOLESTEROLEMIA, FAMILIAL
- Pain
- Peripheral neuropathy
- Dilatation
- Stroke
- Myocardial infarction
More info about HYPERCHOLESTEROLEMIA, FAMILIAL
SOURCES: OMIM
SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY
Alternate names
SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY Is also known as short stature due to partial growth hormone receptor deficiency
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.
Most common symptoms of SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY
- Short stature
- Growth delay
- Midface retrusion
- Delayed skeletal maturation
- Hypoglycemia
More info about SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY
GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP
Most common symptoms of GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP
- Short stature
- Failure to thrive
- Vomiting
- Delayed skeletal maturation
- Abdominal pain
More info about GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP
SOURCES: OMIM
Search interest in GHR
Potential gene panels for GHR gene
GHR (SS) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the GHR gene.
More info about this panelLaron Syndrome (GHR mutations) Panel
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the GHR gene.
More info about this panelGHR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GHR gene.
More info about this panelLaron syndrome (sequence analysis of GHR gene) Panel
By CGC Genetics
This panel specifically test the GHR gene.
More info about this panelHypercholesterolemia, familial (NGS panel for 15 genes) Panel
By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR
More info about this panelFamilial Hypercholesterolemia, Autosomal Dominant, 2 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Familial Hypercholesterolemia, Autosomal Dominant, 2 that also includes the following genes: GHR LDLR
More info about this panelLaron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GHR gene.
More info about this panelShort stature with endocrinopathy NGS panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelShort stature with endocrinopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelShort stature with endocrinopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelHypercholesterolemia, familial Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GHR gene.
More info about this panelLaron dwarfism Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panelShort stature Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panelShort stature Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panelLaron dwarfism Panel
By MedGene
This panel specifically test the GHR gene.
More info about this panelShort stature Panel
By MedGene
This panel specifically test the GHR gene.
More info about this panelShort stature Panel
By MedGene
This panel specifically test the GHR gene.
More info about this panelLaron syndrome: GHR gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GHR gene.
More info about this panelProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelGHR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GHR gene.
More info about this panelComprehensive Short Stature Syndrome Panel Panel
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelLaron syndrome Panel
By Bioarray
This panel specifically test the GHR gene.
More info about this panelShort Stature, autosomal recessive, NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 GH1 GHR GHRHR GHSR HESX1 POU1F1 PROP1
More info about this panelGHR Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GHR gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelGROWTH HORMONE INSENSITIVITY SYNDROME Panel
By Laboratorio de Genetica Clinica SL GROWTH HORMONE INSENSITIVITY SYNDROME that also includes the following genes: STAT5B GHR
More info about this panelLARON DWARFISM Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GHR gene.
More info about this panelLaron Syndrome, Sequencing GHR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GHR gene.
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PDE4D PRKRA MECOM CHD7 HBB