Phenotypes associated with the disease familial hemophagocytic lymphohistiocytosis 3 (OMIM:608898):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/15. (PMID:16825436)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. (PMID:16825436)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/15. (PMID:16825436)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: PCS. (PMID:16825436)
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 13/13. (PMID:16825436)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. (PMID:16825436)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/15. (PMID:16825436)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 12/14. (PMID:16825436)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/15. (PMID:16825436)
- 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:16825436)
- Decreased total granulocyte count (HP:0001913): Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 11/14. (PMID:16825436)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. (PMID:16825436)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. (PMID:16825436)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/15. (PMID:16825436)