AGAMMAGLOBULINEMIA, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: IMD1 HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
BRUTON-TYPE AGAMMAGLOBULINEMIA
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
IMMUNODEFICIENCY 1
XLA
AGMX1
Number of Symptoms 30
OrphanetNr:
OMIM Id: 300755
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000031) Epididymitis 4 / 7739
2
(HPO:0000010) Recurrent urinary tract infections 56 / 7739
3
(HPO:0000024) Prostatitis 4 / 7739
4
(HPO:0000246) Sinusitis 73 / 7739
5
(HPO:0000509) Conjunctivitis 47 / 7739
6
(HPO:0000365) Hearing impairment 539 / 7739
7
(HPO:0000388) Otitis media 28 / 7739
8
(HPO:0001287) Meningitis 46 / 7739
9
(HPO:0002383) Encephalitis 41 / 7739
10
(HPO:0000750) Delayed speech and language development 197 / 7739
11
(HPO:0003095) Septic arthritis 2 / 7739
12
(HPO:0002014) Diarrhea 225 / 7739
13
(HPO:0001412) Enteroviral hepatitis 2 / 7739
14
(HPO:0000999) Pyoderma 7 / 7739
15
(HPO:0001648) Cor pulmonale 16 / 7739
16
(HPO:0004432) Agammaglobulinemia 17 / 7739
17
(HPO:0002090) Pneumonia 59 / 7739
18
(HPO:0002664) Neoplasm 111 / 7739
19
(HPO:0002718) Recurrent bacterial infections 75 / 7739
20
(HPO:0003729) Enteroviral dermatomyositis syndrome 2 / 7739
21
(HPO:0002732) Lymph node hypoplasia 3 / 7739
22
(OMIM) Increased incidence of rectosigmoid cancer 1 / 7739
23
(OMIM) Rudimentary adenoids 1 / 7739
24
(OMIM) Absent or severely reduced levels of serum immunoglobulins 1 / 7739
25
(OMIM) Rudimentary tonsils 1 / 7739
26
(OMIM) Absent plasma cells in all organs 1 / 7739
27
(OMIM) Severe enteroviral infections 2 / 7739
28
(OMIM) Hypoxemia and cor pulmonale 1 / 7739
29
(OMIM) Absent B lymphocytes in all organs 2 / 7739
30
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a ...
Clinical Description OMIM X-linked agammaglobulinemia, the first genetic immunodeficiency to be specifically identified, was described by Bruton (1952). Patients are unusually prone to bacterial infection but not to viral infection. A clinical picture resembling rheumatoid arthritis develops in many. Before antibiotics, ...
Molecular genetics OMIM - X-Linked Agammaglobulinemia

Using probes derived for the Southern analysis of DNA from 33 unrelated families and 150 normal X chromosomes, Vetrie et al. (1993) detected restriction pattern abnormalities in 8 families. Five of them had ...