Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

IMMUNODEFICIENCY 43
Synonyms

HYPOPROTEINEMIA, HYPERCATABOLIC

BETA-2-MICROGLOBULIN DEFICIENCY

B2M DEFICIENCY

IMD43
ID

http://purl.bioontology.org/ontology/OMIM/241600
altLabel

HYPOPROTEINEMIA, HYPERCATABOLIC

BETA-2-MICROGLOBULIN DEFICIENCY

B2M DEFICIENCY

IMD43
cui

C1855796
Gene Locus

15q21-q22
Gene Symbol

IMD43

B2M
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012163

http://purl.bioontology.org/ontology/OMIM/MTHU067637

http://purl.bioontology.org/ontology/OMIM/MTHU067634

http://purl.bioontology.org/ontology/OMIM/MTHU048978

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU067638

http://purl.bioontology.org/ontology/OMIM/MTHU067635

http://purl.bioontology.org/ontology/OMIM/MTHU048976

http://purl.bioontology.org/ontology/OMIM/MTHU012162

http://purl.bioontology.org/ontology/OMIM/MTHU001685

http://purl.bioontology.org/ontology/OMIM/MTHU012164

http://purl.bioontology.org/ontology/OMIM/MTHU067636

http://purl.bioontology.org/ontology/OMIM/MTHU043669

http://purl.bioontology.org/ontology/OMIM/MTHU026378

http://purl.bioontology.org/ontology/OMIM/MTHU048977

http://purl.bioontology.org/ontology/OMIM/MTHU012160

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU011676
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

241600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

IMMUNODEFICIENCY 43
Scope Statement

Caused by mutation in the beta-2-microglobulin gene (B2M, 109700.0001) [MOLECULAR BASIS]

Two unrelated families have been reported (last curated November 2015) [MISCELLANEOUS]

Variable severity [MISCELLANEOUS]

Some patients may be asymptomatic [MISCELLANEOUS]
tui

T047
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