autoimmune polyendocrine syndrome type 1

Summary
Synonym
  • Autoimmune Polyglandular Syndrome I
  • Whitaker syndrome
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Definition
An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Super Class
autoimmune polyendocrine syndrome
External Links
Disease Ontology
DOID:0050167
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
124 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
912 CD1D CD1d molecule
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1737 DLAT dihydrolipoamide S-acetyltransferase
2215 FCGR3B Fc gamma receptor IIIb
4069 LYZ lysozyme
7412 VCAM1 vascular cell adhesion molecule 1
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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Last updated: August 19, 2024