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
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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

SOURCES: OMIM ORPHANET

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

SOURCES: MESH OMIM


Potential gene panels for GHRHR gene

GHRHR (GHD) Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GHRHR gene.

More info about this panel

Growth Hormone Deficiency (GHD) Evaluation Panel

United States.

By Athena Diagnostics Inc Growth Hormone Deficiency (GHD) Evaluation that also includes the following genes: SHOX GH1 GHRHR

More info about this panel

GHRHR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GHRHR gene.

More info about this panel

Isolated growth hormone deficiency (IGHD) type IB (sequence analysis of GHRHR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GHRHR gene.

More info about this panel

Isolated growth hormone deficiency type 1B Panel

Germany.

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 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

Growth hormone deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GHRHR gene.

More info about this panel

Combined Pituitary Hormone Deficiency Panel

Estonia.

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 panel

Growth Hormone Releasing Hormone Receptor Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GHRHR gene.

More info about this panel

Growth Hormone Releasing Hormone Receptor Panel

Slovakia.

By MedGene

This panel specifically test the GHRHR 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

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

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 panel

GHRHR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GHRHR 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

Isolated growth hormone deficiency type IB Panel

Spain.

By Bioarray

This panel specifically test the GHRHR gene.

More info about this panel

Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel

United States.

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 panel

GHRHR 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 GHRHR 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

GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) Panel

Spain.

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 panel

Isolated Growth Hormone Deficiency Type IB , Sequencing GHRHR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GHRHR gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

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

More info about this panel


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