Isolated Growth Hormone Deficiency, Type Iii; Ighd3

Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Growth Hormone Deficiency, Type Iii; Ighd3

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia
  • Decreased antibody level in blood
  • Growth hormone deficiency
  • Recurrent urinary tract infections
  • Sinusitis

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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 Iii; Ighd3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked, ighd iii, fleisher syndrome, agammaglobulinemia and isolated growth hormone deficiency, x-linked, growth hormone deficiency with hypogammaglobulinemia.

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 Iii; Ighd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
X-Linked Agammaglobulinemia.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

BTK
Specificity
100 %
Genes
100 %
X-linked Agammaglobulinemia (XLA): BTK (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BTK
Specificity
100 %
Genes
100 %
X-linked Agammaglobulinemia (XLA): BTK (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BTK
Specificity
100 %
Genes
100 %
BTK Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BTK
Specificity
100 %
Genes
100 %
BTK Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BTK
Specificity
100 %
Genes
100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
BTK. MLPA testing.

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

BTK
Specificity
100 %
Genes
100 %

We have 71 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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