Disease #00076 (XLA (X-linked agammaglobulinemia), OMIM:300755)

Official abbreviation XLA
Name X-linked agammaglobulinemia
OMIM ID 300755
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 6
Phenotype entries for this disease 4
Associated with 1 gene BTK
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000465 Chai Teng Chear et al.(2013) M Malaysia Malay - - - XLA - BTK BTK 1 1 Nur Aisyah Athirah
00000555 Chai Teng Chear et al.(2021) M Malaysia Malay - - - XLA perianal swelling associated with pus discharge, recurrent upper respiratory tract infections, left thigh swelling with abscesses BTK BTK 1 1 Nur Aisyah Athirah
00000755 Chai Teng Chear et al.(2015) M Malaysia - - - - XLA has complex febrile fit secondary to right otitis externa, right external auditory canal osteitis, chondritis and necrosis of cartilage, had another complex febrile fit secondary to left gluteal cellulitis at 1y/o, perianal abscesses, synovitis of knee joint, synovial thickening. BTK BTK 1 1 Nur Aisyah Athirah
00000756 Hoda Mirsafian et al.(2017) - Malaysia - - - - XLA Age onset: 1 y/o, Monocyte with deficit of BTK expression BTK BTK 1 1 Nur Aisyah Athirah
00000757 Hoda Mirsafian et al.(2017) - Malaysia - - - - XLA - BTK BTK 1 1 Nur Aisyah Athirah
00000758 Hoda Mirsafian et al.(2017) - Malaysia - - - - XLA Age onset: 2, Monocyte with deficit of BTK expression BTK BTK 1 1 Nur Aisyah Athirah
Legend   How to query