AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT
AGM2
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001287) Meningitis 46 / 7739
2
(HPO:0004432) Agammaglobulinemia 17 / 7739
3
(HPO:0002205) Recurrent respiratory infections 254 / 7739
4
(HPO:0006532) Recurrent pneumonia 48 / 7739
5
(HPO:0002718) Recurrent bacterial infections 75 / 7739
6
(OMIM) Inability to mount antibody response to antigen 4 / 7739
7
(OMIM) Absent or severely reduced numbers of B cells 5 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(HPO:0003593) Infantile onset 249 / 7739
10
(OMIM) Otitis, recurrent 7 / 7739
11
(OMIM) Normal numbers and function of T cells 4 / 7739
12
(OMIM) Hypogammaglobulinemia, profound 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minegishi et al. (1998) reported a boy with agammaglobulinemia and markedly reduced numbers of B cells. He had onset of recurrent otitis at 2 months of age and was found to have hypogammaglobulinemia and absent B cells at ...
Molecular genetics OMIM In a boy with agammaglobulinemia and markedly reduced numbers of B cells, Minegishi et al. (1998) identified compound heterozygosity for 2 mutations in the IGLL1 gene (146770.0001; 146770.0002).