General Information of Disease (ID: DISVVVF2)

Disease Name Agammaglobulinemia 2, autosomal recessive
Synonyms
AGM2; IGLL1 autosomal agammaglobulinemia; lambda 5 deficiency; autosomal agammaglobulinemia caused by mutation in IGLL1; agammaglobulinemia, autosomal recessive, due to IGLL1 defect; agammaglobulinemia 2, autosomal recessive
Definition Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.
Disease Hierarchy
DISRW8BT: Autosomal agammaglobulinemia
DISVVVF2: Agammaglobulinemia 2, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0013287
UMLS CUI
C3150750
OMIM ID
613500
MedGen ID
462100

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
IGLL1 OTRTNVOG Moderate Autosomal recessive [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.