AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
XLA2
AGMX2
|
|
Number of Symptoms
|
13
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
300310
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
X-linked inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0005215)
|
Frequent Giardia lamblia infestation |
|
|
|
|
2 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0004432)
|
Agammaglobulinemia |
|
|
|
|
17 / 7739
|
|
4
|
(OMIM)
|
Reduced peripheral blood lymphocyte ecto-5-prime-nucleotidase |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
No circulating bone marrow-derived (B) lymphocytes |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Frequent Campylobacter jejuni and Salmonella infection |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Rheumatoid-arthritis-like syndrome |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Recurrent fever |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Plasma cells lacking |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal progenitor and thymus (T) cells |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Increased risk of colorectal cancer |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Intact cell-mediated immunity |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Prone to bacterial infection, but not viral |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |