Details of Disease

General Information of Disease (ID: DISFKY61)

Disease Name Hypoproteinemia, hypercatabolic
Synonyms Beta-2-microglobulin deficiency; immunodeficiency 43; B2M deficiency; IMD43; hypoproteinemia, hypercatabolic
Disease Hierarchy
DIS093I0: Immunodeficiency
DISFKY61: Hypoproteinemia, hypercatabolic
Disease Identifiers
MONDO ID
MONDO_0009434
MESH ID
C565476
UMLS CUI
C1855796
OMIM ID
241600
MedGen ID
343422

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
B2M TTY7FKA Strong Autosomal recessive [1]
B2M TTY7FKA Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B2M OTDWN6NX Strong Autosomal recessive [1]
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References

1 Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):5084-9. doi: 10.1073/pnas.0600548103. Epub 2006 Mar 20.
2 2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system. J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19.