AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT
AGM1
Number of Symptoms 16
OrphanetNr:
OMIM Id: 601495
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:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 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 83 / 7739
7
(HPO:0002110) Bronchiectasis 73 / 7739
8
(HPO:0002205) Recurrent respiratory infections 254 / 7739
9
(HPO:0006532) Recurrent pneumonia 48 / 7739
10
(HPO:0002718) Recurrent bacterial infections 75 / 7739
11
(MedDRA:10061471) Pseudomonas infection 2 / 7739
12
(OMIM) Absent or severely reduced numbers of B cells 5 / 7739
13
(OMIM) Otitis, recurrent 7 / 7739
14
(OMIM) Hypogammaglobulinemia, profound 5 / 7739
15
(OMIM) Enteritis, recurrent 3 / 7739
16
(OMIM) Enteroviral infections 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of ...
Clinical Description OMIM Conley and Sweinberg (1992) reported 2 girls with a recessive disorder phenotypically identical to the X-linked form (300755), but with a likely autosomal origin.

Yel et al. (1996) reported 2 consanguineous families with autosomal recessive agammaglobulinemia. ...

Molecular genetics OMIM In affected individuals from 2 consanguineous families with autosomal recessive agammaglobulinemia, Yel et al. (1996) demonstrated 2 different homozygous mutations in the IGHM gene on chromosome 14 (147020.0001-147020.0002). A third Korean boy with the disorder was compound heterozygous ...