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Standards Ontologies Notations
isolated growth hormone deficiency type III

Summary
Synonym
  • Fleisher syndrome
  • IGHD III
  • X-linked IGHD
  • X-linked agammaglobulinemia and isolated growth hormone deficiency
  • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
  • X-linked isolated growth hormone deficiency
  • congenital IGHD type III
  • congenital isolated GH deficiency type III
  • congenital isolated growth hormone deficiency type III
  • growth hormone deficiency with hypogammaglobulinemia
Definition
An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.
Super Class
X-linked recessive disease isolated growth hormone deficiency
External Links
Disease Ontology
DOID:0060875
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying entries 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
55512 SMPD3 sphingomyelin phosphodiesterase 3
148738 HJV hemojuvelin BMP co-receptor
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024