Isolated Growth Hormone Deficiency, Type Ib; Ighd1b

Table of contents:

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

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.

Genes related to Isolated Growth Hormone Deficiency, Type Ib; Ighd1b

GHRHR
GH1

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Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Growth Hormone Deficiency, Type Ib; Ighd1b

Short stature
Growth delay
Frontal bossing
Obesity
Delayed skeletal maturation
Severe short stature
Growth hormone deficiency
Atherosclerosis
Truncal obesity
Proportionate short stature

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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

Isolated Growth Hormone Deficiency, Type Ib; Ighd1b Is also known as dwarfism of sindh, ighd ib.

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.

Isolated Growth Hormone Deficiency, Type Ib; Ighd1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHRHR (GHD) Sequencing Test. By Athena Diagnostics Inc (United States). GHRHR Specificity 100 % Genes 50 %
Growth Hormone Deficiency (GHD) Evaluation. By Athena Diagnostics Inc (United States). SHOX, GH1, GHRHR Specificity 67 % Genes 100 %
GHRHR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GHRHR Specificity 100 % Genes 50 %
Isolated growth hormone deficiency (IGHD) type IB (sequence analysis of GHRHR gene). By CGC Genetics (Portugal). GHRHR Specificity 100 % Genes 50 %
Isolated growth hormone deficiency type 1B. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). GH1, GHRHR 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 15 % 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 15 % 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 15 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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