Short Stature Due To Ghsr Deficiency

Description

Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature Due To Ghsr Deficiency

  • Short stature
  • Growth delay
  • Vomiting
  • Delayed skeletal maturation
  • Abdominal pain
  • Hypoglycemia
  • Delayed puberty
  • Decreased body weight
  • Ketosis
  • Decreased serum insulin-like growth factor 1

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Short Stature Due To Ghsr Deficiency Is also known as ghrelin receptor deficiency, short stature due to growth hormone secretagogue receptor deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Short Stature Due To Ghsr Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for Partial Isolated Growth Hormone Deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

GHSR
Specificity
100 %
Genes
100 %
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GHSR
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
100 %
GHSR.

By Fulgent Genetics Fulgent Genetics (United States).

GHSR
Specificity
100 %
Genes
100 %
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children (United States).

BTK, LHX4, GH1, GHRHR, GHSR, HESX1, LHX3, OTX2, POU1F1, PROP1
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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