Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
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 1 - 10 of 22 in total
Gene ID Gene Symbol Description Source
128 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
412 STS steroid sulfatase
960 CD44 CD44 molecule (IN blood group)
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1604 CD55 CD55 molecule (Cromer blood group)
1890 TYMP thymidine phosphorylase
2619 GAS1 growth arrest specific 1
2710 GK glycerol kinase
2817 GPC1 glypican 1
Related Glycoprotein
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024