Isolated Growth Hormone Deficiency, Type Ib; Ighd1b

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.

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

And another 2 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

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.


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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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