immunodeficiency 51

Summary
Synonym
  • CANDF5
  • IMD51
  • familial candidiasis 5
Definition
A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
Super Class
autosomal recessive disease primary immunodeficiency disease
Disease Ontology
DOID:0111996
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23765 IL17RA interleukin 17 receptor A
Displaying 1 entry
Gene ID Gene Symbol Description Source
16172 Il17ra interleukin 17 receptor A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173932 ilcr-2 Interleukin cytokine receptor-related protein 2
178376 ilcr-1 Interleukin cytokine receptor-related protein 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 30 in total
HPO ID HPO Term
HP:0000159 Abnormal lip morphology
HP:0000790 Hematuria
HP:0000142 Abnormal vagina morphology
HP:0000962 Hyperkeratosis
HP:0000504 Abnormality of vision
HP:0000010 Recurrent urinary tract infections
HP:0000951 Abnormality of the skin
HP:0000478 Abnormality of the eye
HP:0000988 Skin rash
HP:0000153 Abnormality of the mouth
Displaying 1 entry
Gene ID Gene Symbol Description
64581 CLEC7A C-type lectin domain containing 7A

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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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