AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT
AGM5
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613506
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000286) Epicanthus 371 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0000218) High palate 356 / 7739
4
(HPO:0000369) Low-set ears 372 / 7739
5
(HPO:0004432) Agammaglobulinemia 17 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sawada et al. (2003) studied a girl with a balanced de novo translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia and minor facial anomalies; she lacked B cells in peripheral blood and showed epicanthic folds, mild hypertelorism, high-arched palate, and ...
Molecular genetics OMIM In a girl with a balanced translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia, Sawada et al. (2003) isolated the LRRC8 gene at the translocation site on chromosome 9. The translocation truncated the LRRC8 gene, resulting in deletion of the ...