Short Stature Due To Growth Hormone Qualitative Anomaly

Description

Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

Clinical Features

Phenotypes and symptoms related to Short Stature Due To Growth Hormone Qualitative Anomaly

  • Short stature
  • Growth delay
  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Severe short stature
  • Pituitary dwarfism

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 Growth Hormone Qualitative Anomaly Is also known as kowarski syndrome, pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, biodefective growth hormone.

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 Growth Hormone Qualitative Anomaly Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Growth Hormone Deficiency (GHD) Evaluation.

By Athena Diagnostics Inc (United States).

SHOX, GH1, GHRHR
Specificity
34 %
Genes
100 %
GH1 (GHD) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GH1
Specificity
100 %
Genes
100 %
GH1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GH1
Specificity
100 %
Genes
100 %
Growth hormone deficiency, isolated type IA (sequence analysis of GH1 gene).

By CGC Genetics (Portugal).

GH1
Specificity
100 %
Genes
100 %
Isolated growth hormone deficiency type IA (deletion/duplication analysis of GH1 gene).

By CGC Genetics (Portugal).

GH1
Specificity
100 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics (Portugal).

SLC12A6, SOX2, SOX3, LHX4, EPG5, TAX1BP3, FGF8, FGFR2, GH1, GLI2, HESX1, ANOS1, LHX3, OTX2, PAX6, POU1F1, PROP1
Specificity
6 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics (Portugal).

SLC12A6, SOX2, SOX3, LHX4, EPG5, TAX1BP3, FGF8, FGFR2, GH1, GLI2, HESX1, ANOS1, LHX3, OTX2, PAX6, POU1F1, PROP1
Specificity
6 %
Genes
100 %
Ateleiotic dwarfism.

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

GH1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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