- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/17. (PMID:22019780)
- Lupus nephritis (HP:0033726): Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. Evidence: PCS. Frequency: 11/17. (PMID:22019780)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 17/17. (PMID:22019780)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 9/17. (PMID:22019780)
- Anti-dsDNA antibody positivity (HP:0020151): The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. Evidence: PCS. Frequency: 16/17. (PMID:22019780)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 17/17. (PMID:22019780)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22019780)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: PCS. Frequency: 17/17. (PMID:22019780)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 17/17. (PMID:22019780)
- Perinuclear antineutrophil antibody positivity (HP:0032229): The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. Evidence: PCS. Frequency: 11/17. (PMID:22019780)
These phenotypes are associated with the disease autosomal systemic lupus erythematosus type 16 (OMIM:614420).