Features include always present findings: Stage 5 chronic kidney disease, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Hepatic failure, and Cutaneous amyloidosis and others; and common findings: Heart muscle disease (cardiomyopathy).

APOA1 encodes apolipoprotein A1 (267 aa). Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). Highest expression in Liver (5,952 TPM) and Testis (453.4 TPM).

Amyloidosis, hereditary systemic 3 is associated with mutations in the APOA1 gene on chromosome 11.

The APOA1 protein participates in Expression of APOA1 pathway.

APOA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 4.5.

Genetic testing for APOA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyloidosis, hereditary systemic 3 has been reported in the published literature.

Phenotype severity distribution: 26 always present features, 1 common feature.

No clinical trials have been registered for amyloidosis, hereditary systemic 3.

202 publications have been identified in PubMed for amyloidosis, hereditary systemic 3. Kisho has analyzed 86 by research type. Research spans Review / Meta-Analysis (47%), Epidemiology / Natural History (22%), and Clinical Trial Publication (14%).