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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

Laron syndrome (sequence analysis of GHR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GHR gene.

More info about this panel

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

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

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

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

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

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

Hypercholesterolemia, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GHR gene.

More info about this panel

Laron dwarfism Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GHR gene.

More info about this panel

Short stature Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GHR gene.

More info about this panel

Short stature Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GHR gene.

More info about this panel

Laron dwarfism Panel

Slovakia.

By MedGene

This panel specifically test the GHR gene.

More info about this panel

Short stature Panel

Slovakia.

By MedGene

This panel specifically test the GHR gene.

More info about this panel

Short stature Panel

Slovakia.

By MedGene

This panel specifically test the GHR gene.

More info about this panel

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

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

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

GHR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GHR gene.

More info about this panel

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

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

Laron syndrome Panel

Spain.

By Bioarray

This panel specifically test the GHR gene.

More info about this panel

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

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

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

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

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

LARON DWARFISM Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GHR gene.

More info about this panel

Laron Syndrome, Sequencing GHR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GHR gene.

More info about this panel

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


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