Phenotypes associated with the disease hemophagocytic lymphohistiocytosis, familial, 6 (OMIM:618998, an entry in Online Mendelian Inheritance in Man):
- Increased circulating interleukin 1beta concentration (HP:6000374, a Human Phenotype Ontology term): An increased concentration of interleukin-1beta in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Elevated circulating tumor necrosis factor alpha concentration (HP:6000239, a Human Phenotype Ontology term): The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Elevated circulating alanine aminotransferase concentration (HP:0031964, a Human Phenotype Ontology term): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Hemophagocytosis (HP:0012156, a Human Phenotype Ontology term): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Decreased total lymphocyte count (HP:0001888, a Human Phenotype Ontology term): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Lymphadenopathy (HP:0002716, a Human Phenotype Ontology term): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956, a Human Phenotype Ontology term): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Hypertriglyceridemia (HP:0002155, a Human Phenotype Ontology term): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Decreased total leukocyte count (HP:0001882, a Human Phenotype Ontology term): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Elevated gamma-glutamyltransferase level (HP:0030948, a Human Phenotype Ontology term): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Increased circulating interleukin 18 concentration (HP:0034447, a Human Phenotype Ontology term): An increased concentration of interleukin-18 in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Hypofibrinogenemia (HP:0011900, a Human Phenotype Ontology term): Decreased concentration of fibrinogen in the blood. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Periodic fever (HP:0032323, a Human Phenotype Ontology term): Episodic fever that recurs at regular intervals. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Increased circulating ferritin concentration (HP:0003281, a Human Phenotype Ontology term): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Elevated circulating sCD25 concentration (HP:0033833, a Human Phenotype Ontology term): The concentration of sCD25 (= soluble CD25, = soluble interleukin-2 receptor alpha-chain, = soluble IL-2 receptor alpha) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Decreased total monocyte count (HP:0012312, a Human Phenotype Ontology term): Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Hepatitis (HP:0012115, a Human Phenotype Ontology term): Inflammation of the liver. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Decreased natural killer cell-induced killing of target cells (HP:0025808, a Human Phenotype Ontology term): Abnormal decrease of natural killer (NK) cell cytotoxicity. Assaying NK cytotoxicity involves coculturing NK calls with target cells and measuring the extent of cell death by methods such as luminescence-based (luciferase) assays, biophotonic assays, and flow cytometry-based Cr-release assays. Evidence: PCS. Frequency: 0/1. (PMID:31636267)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:31636267)
- Increased naive B cell proportion (HP:0030371, a Human Phenotype Ontology term): The proportion of naive B cellsin the blood circulation is above the upper limit of normal with respect to the reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Webbed neck (HP:0000465, a Human Phenotype Ontology term): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/1. (PMID:31636267)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:31636267)