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hypoproteinemia, hypercatabolic - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoproteinemia, hypercatabolic

MONDO:0009434

Also known as:B2M deficiencyBeta-2-microglobulin deficiencyIMD43

Overview

GeneticsAutosomal recessive · B2M (chr 15)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, and Hypoalbuminemia and others; and common findings: Lung abscess, Subcutaneous nodule, Decreased total B cell count, and Organizing pneumonia and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Lung abscess, Bronchiectasis, Organizing pneumonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

B2M encodes beta-2-microglobulin (119 aa). Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M. Highest expression in Cells EBV-transformed lymphocytes (4,414 TPM) and Spleen (3,470 TPM).

Hypoproteinemia, hypercatabolic has limited evidence linking it to mutations in the B2M gene on chromosome 15.

B2M is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, and External Side Of Plasma Membrane categories) with score 8.7.

Diagnosis

Genetic testing for B2M is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypoproteinemia, hypercatabolic.

3 publications have been identified in PubMed for hypoproteinemia, hypercatabolic. Research spans Basic Science / Preclinical (100%).

Recent Publications

Kulicke CA (2026). [PMID: 41759736](https://pubmed.ncbi.nlm.nih.gov/41759736/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Kulicke CA (2025). [PMID: 40475583](https://pubmed.ncbi.nlm.nih.gov/40475583/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Abdel-Malek K (2025). [PMID: 40784045](https://pubmed.ncbi.nlm.nih.gov/40784045/). *Stem cell research*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241600

GARD

Genetic and Rare Diseases Info Center

GARD:15185

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypoproteinemia, hypercatabolic

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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