Genopathy
Gene-Disorder Association · Article
Gene
B2M
Beta-2-Microglobulin
Disorder
Immunodeficiency 43
First reported 2006
Supporting publications 1
Key publication · gene–disorder Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.Proceedings of the National Academy of Sciences of the United States of America · 2006
Key publication · disorder [Gastrointestinal protein deficiency in idiopathic hypercatabolic hypoproteinemia].Ugeskrift for laeger · 1959
Manually curated
Association Review

In brief

The association between B2M (Beta-2-Microglobulin) and Immunodeficiency 43 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 60
Symptoms 34
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
B2M

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Immunodeficiency 43

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

60 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access