immunodeficiency 47

Summary
Synonym
  • CDG IIs
  • CDG2S
  • CDGIIs
  • IMD47
  • congenital disorder of glycosylation type IIs
  • immunodeficiency and hepatopathy with or without neurologic features
Definition
A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
Super Class
X-linked recessive disease congenital disorder of glycosylation type II primary immunodeficiency disease
External Links
Disease Ontology
DOID:0112002
Mondo Disease Ontology
UMLS
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
537 ATP6AP1 ATPase H+ transporting accessory protein 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 43 in total
HPO ID HPO Term
HP:0001394 Cirrhosis
HP:0001395 Hepatic fibrosis
HP:0001396 Cholestasis
HP:0001397 Hepatic steatosis
HP:0001419 X-linked recessive inheritance
HP:0001508 Failure to thrive
HP:0001522 Death in infancy
HP:0001738 Exocrine pancreatic insufficiency
HP:0001744 Splenomegaly
HP:0001747 Accessory spleen
Displaying 1 entry
Gene ID Gene Symbol Description
537 ATP6AP1 ATPase H+ transporting accessory protein 1

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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