AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT
AGM7
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615214
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:0001875) Neutropenia 83 / 7739
2
(HPO:0004432) Agammaglobulinemia 17 / 7739
3
(HPO:0002205) Recurrent respiratory infections 254 / 7739
4
(HPO:0002719) Recurrent infections 107 / 7739
5
(OMIM) Arrest of B cell development at very early stage 1 / 7739
6
(OMIM) Normal T cells 1 / 7739
7
(OMIM) Decreased NK cells 2 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739
9
(OMIM) Gastroenteritis, recurrent 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De la Morena et al. (1995) reported a 6-month-old Hispanic girl of Chinese and Peruvian Indian ancestry who presented at age 3.5 months with interstitial pneumonia and gastroenteritis. Laboratory studies showed agammaglobulinemia, neutropenia, and lack of mature B ...
Molecular genetics OMIM In a patient with agammaglobulinemia-7, Conley et al. (2012) identified a homozygous truncating variant in the PIK3R1 (W298X; 171833.0001). The mutation, which was identified by exome sequencing, segregated with the disorder and was not found in 1,000 in-house ...