Short Stature Due To Growth Hormone Qualitative Anomaly

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Short Stature Due To Growth Hormone Qualitative Anomaly

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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.

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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