autoimmune lymphoproliferative syndrome type 3

Summary
Synonym
  • ALPS3
  • autoimmune lymphoproliferative syndrome type III
Definition
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.
Super Class
autoimmune lymphoproliferative syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0110119
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 21 - 30 of 32 in total
Gene ID Gene Symbol Description Source
6382 SDC1 syndecan 1
6646 SOAT1 sterol O-acyltransferase 1
6900 CNTN2 contactin 2
8809 IL18R1 interleukin 18 receptor 1
10682 EBP EBP cholestenol delta-isomerase
10998 SLC27A5 solute carrier family 27 member 5
23205 ACSBG1 acyl-CoA synthetase bubblegum family member 1
23417 MLYCD malonyl-CoA decarboxylase
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
56624 ASAH2 N-acylsphingosine amidohydrolase 2

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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