Features include always present findings: Cardiac amyloidosis, Orthostatic hypotension, Amyloidosis of peripheral nerves, and Polyneuropathy and others; and common findings: Weight loss. 10 total HPO annotations.

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).

Amyloidosis, hereditary systemic 6 is associated with 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.

Genetic testing for B2M is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyloidosis, hereditary systemic 6 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 1 common feature.

No clinical trials have been registered for amyloidosis, hereditary systemic 6.

38 publications have been identified in PubMed for amyloidosis, hereditary systemic 6. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (18%).