Details of Disease

General Information of Disease (ID: DISCFY2M)

Disease Name Agammaglobulinemia 10, autosomal dominant
Synonyms AGM10
Definition
An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.
Disease Hierarchy
DISXMS80: Agammaglobulinemia
DISCFY2M: Agammaglobulinemia 10, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0030529
UMLS CUI
C5676900
OMIM ID
619707
MedGen ID
1806624

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPI1 OTVCA1D0 Strong Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.