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
United States.
By Athena Diagnostics Inc
This panel specifically test the GHR gene.
More info about this panel United States.
Laron Syndrome (GHR mutations) Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the GHR gene.
More info about this panel United States.
GHR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GHR gene.
More info about this panel Spain.
Laron syndrome (sequence analysis of GHR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GHR gene.
More info about this panel Portugal.
Hypercholesterolemia, familial (NGS panel for 15 genes) Panel
Portugal.
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 panel Portugal.
Familial Hypercholesterolemia, Autosomal Dominant, 2 Panel
Germany.
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 panel Germany.
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GHR gene.
More info about this panel United States.
Short stature with endocrinopathy NGS panel Panel
United States.
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 panel United States.
Short stature with endocrinopathy Deletion / Duplication panel Panel
United States.
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 panel United States.
Short stature with endocrinopathy Comprehensive panel Panel
United States.
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 panel United States.
Hypercholesterolemia, familial Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GHR gene.
More info about this panel Germany.
Laron dwarfism Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panel Austria.
Short stature Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panel Austria.
Short stature Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GHR gene.
More info about this panel Austria.
Laron dwarfism Panel
Slovakia.
By MedGene
This panel specifically test the GHR gene.
More info about this panel Slovakia.
Short stature Panel
Slovakia.
By MedGene
This panel specifically test the GHR gene.
More info about this panel Slovakia.
Short stature Panel
Slovakia.
By MedGene
This panel specifically test the GHR gene.
More info about this panel Slovakia.
Laron syndrome: GHR gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GHR gene.
More info about this panel Spain.
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
United States.
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 panel United States.
Intellectual Disability NGS Panel Panel
United States.
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 panel United States.
GHR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GHR gene.
More info about this panel United States.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
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 panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
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 panel Finland.
Laron syndrome Panel
Spain.
By Bioarray
This panel specifically test the GHR gene.
More info about this panel Spain.
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel Panel
United States.
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 panel United States.
GHR Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GHR gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
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 panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
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 panel United States.
GROWTH HORMONE INSENSITIVITY SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL GROWTH HORMONE INSENSITIVITY SYNDROME that also includes the following genes: STAT5B GHR
More info about this panel Spain.
LARON DWARFISM Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GHR gene.
More info about this panel Spain.
Laron Syndrome, Sequencing GHR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GHR gene.
More info about this panel Spain.
Tempus xO assay Panel
United States.
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 panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PDE4D DNAJC6 MECOM CHD7 HBB