Features include always present findings: Reduced kidney function (renal insufficiency), Keratoconjunctivitis sicca, Amyloid deposition, and Low red blood cell count (anemia) and others; and common findings: Stage 5 chronic kidney disease, Protein in the urine (proteinuria), and Congestive heart failure. 13 total HPO annotations.

LYZ encodes lysozyme (148 aa). Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents Highest expression in Minor Salivary Gland (9,548 TPM) and Whole Blood (1,687 TPM).

Amyloidosis, hereditary systemic 5 is associated with mutations in the LYZ gene on chromosome 12.

The LYZ protein participates in Variant lysozyme C and Pancreatic pro-acinar cell produces pancreatic acinar cell pathways.

LYZ is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

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

Biomarker and diagnostic research for amyloidosis, hereditary systemic 5 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 3 common features.

No clinical trials have been registered for amyloidosis, hereditary systemic 5.

50 publications have been identified in PubMed for amyloidosis, hereditary systemic 5. Research spans Case Report / Case Series (26%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (22%).