- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Increased circulating interleukin 1beta concentration (HP:6000374): An increased concentration of interleukin-1beta in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:34819510)
- Increased circulating interferon-gamma concentration (HP:0030356): An elevation in the concentration of interferon gamma measured in the blood circulation. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Increased circulating troponin T concentration (HP:0410174): An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Elevated circulating tumor necrosis factor alpha concentration (HP:6000239): The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:34819510)
- Abnormally low T cell receptor excision circle level (HP:0031545): Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. Evidence: PCS. Frequency: 0/2. (PMID:34819510)
- Elevated circulating D-dimer concentration (HP:0033106): An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Increased circulating interleukin 10 concentration (HP:0033199): An elevation of the concentration of interleukin 10 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:34819510)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 2/3. (PMID:34819510;PMID:33727065)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:34819510)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:34819510)
- Basal ganglia calcification (HP:0002135): The presence of calcium deposition affecting one or more structures of the basal ganglia. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Cardiogenic shock (HP:0030149): Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Increased circulating interleukin 6 concentration (HP:0030783): The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:34819510)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Increased circulating interleukin 18 concentration (HP:0034447): An increased concentration of interleukin-18 in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:34819510)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:34819510;PMID:33727065)
- Elevated circulating sCD25 concentration (HP:0033833): 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:34819510)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Elevated circulating myoglobin concentration (HP:0033438): An increased blood concentration of myoglobin. Evidence: PCS. Frequency: 1/1. (PMID:33727065)
- Decreased gamma-delta T cell proportion (HP:0500271): Abnormal decrease of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:34819510)
- Simple febrile seizure (HP:0011171): A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. Evidence: PCS. Frequency: 1/3. (PMID:34819510;PMID:33727065)
- Elevated circulating NT-proBNP concentration (HP:0031185): The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:34819510)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: PCS. Frequency: 2/2. (PMID:34819510;PMID:33727065)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 3/3. (PMID:34819510;PMID:33727065)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 2/3. (PMID:34819510;PMID:33727065)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:34819510)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 2/3. (PMID:34819510;PMID:33727065)
These phenotypes are associated with the disease proteasome-associated autoinflammatory syndrome 6 (OMIM:620796).