ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Disease: Adenitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001416
Disease: Adenitis
Adenitis 		0.010 GeneticVariation phenotype BEFREE Sequencing analysis of 13 additional sporadic cases and 10 familial PFAPA cases identified two additional heterozygous missense variants c.1024G>C p.(D342H) and c.710C>T p.(T237M) in two sporadic patients, suggesting that rare variants in ALPK1 may represent a predisposing factor for recurrent periodic fever in a pediatric population. 31053777 2019