GHRHR gene related symptoms and diseases
All the information presented here about the GHRHR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GHRHR gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Growth delay | Very Common - Between 80% and 100% cases |
Frontal bossing | Very Common - Between 80% and 100% cases |
Obesity | Very Common - Between 80% and 100% cases |
Delayed skeletal maturation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GHRHR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Severe short stature
- Growth hormone deficiency
- Truncal obesity
- Proportionate short stature
Not very common - Between 30% and 50% cases
- Atherosclerosis
- Precocious atherosclerosis
- Abdominal obesity
Rare diseases associated to GHRHR gene
Here you will find a list of rare diseases related to the GHRHR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB
Alternate names
ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly, congenital isolated growth hormone deficiency type ib, congenital ighd type ib, congenital isolated gh deficiency type ib, dwarfism of sindh, isolated growth hormone deficiency, type ib, formerly
Description
IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.
Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB
- Short stature
- Growth delay
- Frontal bossing
- Obesity
- Delayed skeletal maturation
More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
Alternate names
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh, ighd ib
Description
Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.
Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
- Short stature
- Growth delay
- Frontal bossing
- Obesity
- Delayed skeletal maturation
More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
Search interest in GHRHR
Potential gene panels for GHRHR gene
GHRHR (GHD) Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the GHRHR gene.
More info about this panelGrowth Hormone Deficiency (GHD) Evaluation Panel
By Athena Diagnostics Inc Growth Hormone Deficiency (GHD) Evaluation that also includes the following genes: SHOX GH1 GHRHR
More info about this panelGHRHR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GHRHR gene.
More info about this panelIsolated growth hormone deficiency (IGHD) type IB (sequence analysis of GHRHR gene) Panel
By CGC Genetics
This panel specifically test the GHRHR gene.
More info about this panelIsolated growth hormone deficiency type 1B Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Isolated growth hormone deficiency type 1B that also includes the following genes: GH1 GHRHR
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 panelGrowth hormone deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GHRHR gene.
More info about this panelCombined Pituitary Hormone Deficiency Panel
By Asper Biogene Asper Biogene LLC Combined Pituitary Hormone Deficiency that also includes the following genes: LHX4 GH1 GHRHR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panelGrowth Hormone Releasing Hormone Receptor Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GHRHR gene.
More info about this panelGrowth Hormone Releasing Hormone Receptor Panel
By MedGene
This panel specifically test the GHRHR 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 panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelGHRHR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GHRHR 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 panelIsolated growth hormone deficiency type IB Panel
By Bioarray
This panel specifically test the GHRHR gene.
More info about this panelIsolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: BTK LHX4 GH1 GHRHR GHSR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panelGHRHR 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 GHRHR 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 panelGROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) Panel
By Laboratorio de Genetica Clinica SL GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) that also includes the following genes: RNPC3 GH1 GH2 GHRHR GHSR
More info about this panelIsolated Growth Hormone Deficiency Type IB , Sequencing GHRHR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GHRHR gene.
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
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