AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT
AGM3
Number of Symptoms 17
OrphanetNr:
OMIM Id: 613501
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002837) Recurrent bronchitis 21 / 7739
2
(HPO:0000403) Recurrent otitis media 61 / 7739
3
(HPO:0002014) Diarrhea 225 / 7739
4
(HPO:0001508) Failure to thrive 454 / 7739
5
(HPO:0004432) Agammaglobulinemia 17 / 7739
6
(HPO:0001875) Neutropenia rare [HPO:skoehler] 83 / 7739
7
(HPO:0002205) Recurrent respiratory infections 254 / 7739
8
(HPO:0002718) Recurrent bacterial infections 75 / 7739
9
(OMIM) Normal numbers and function of T cells 4 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Absent or severely reduced numbers of B cells 5 / 7739
12
(OMIM) Hypogammaglobulinemia, profound 5 / 7739
13
(OMIM) Absence of lymph nodes (in 1 patient) 1 / 7739
14
(OMIM) Developmental arrest of B cells at the pre-B to pro-B cell transition stage 1 / 7739
15
(OMIM) Inability to mount antibody response to antigen 4 / 7739
16
(MedDRA:10012503) Dermatomyositis 2 / 7739
17
(MedDRA:10014866) Enteritis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minegishi et al. (1999) reported a 2-year-old Turkish girl who presented with recurrent diarrhea and failure to thrive within the first month of life. She later developed bronchitis and neutropenia and was found to have agammaglobulinemia and almost ...
Molecular genetics OMIM In a 2-year-old Turkish girl with agammaglobulinemia-3, Minegishi et al. (1999) identified a homozygous mutation in the CD79A gene (112205.0001). The findings indicated that CD79A plays an important role in B-cell development.

In an 8-year-old Turkish ...