Laron Syndrome

Table of contents:

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

Description

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

Genes related to Laron Syndrome

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Clinical Features

Top most frequent phenotypes and symptoms related to Laron Syndrome

Intellectual disability
Micrognathia
Abnormal facial shape
Motor delay
Brachydactyly
Delayed skeletal maturation
Severe short stature
High forehead
Hypoglycemia
Delayed puberty

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available LARON SYNDROME have a estimated prevalence of 0.3 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Laron Syndrome Is also known as complete growth hormone insensitivity, primary growth hormone insensitivity, gh receptor deficiency, growth hormone receptor deficiency, laron-type dwarfism, short stature due to growth hormone resistance, pituitary dwarfism ii, primary growth hormone resistance.

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.

Laron Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHR (SS) DNA Sequencing Test. By Athena Diagnostics Inc (United States). GHR Specificity 100 % Genes 100 %
Laron Syndrome (GHR mutations). By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). GHR Specificity 100 % Genes 100 %
GHR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GHR Specificity 100 % Genes 100 %
Laron syndrome (sequence analysis of GHR gene). By CGC Genetics (Portugal). GHR Specificity 100 % Genes 100 %
Hypercholesterolemia, familial (NGS panel for 15 genes). By CGC Genetics (Portugal). ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6 Specificity 9 % Genes 100 %
Familial Hypercholesterolemia, Autosomal Dominant, 2. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). GHR, LDLR Specificity 50 % Genes 100 %
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GHR Specificity 100 % 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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