Phenotypes associated with the disease autoinflammation and autoimmunity with immune dysregulation 2 (OMIM:621409):
- 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:40412389)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Abnormal circulating interferon concentration (HP:0011116): The concentration of an interferon is outside the limits of normal. Evidence: PCS. Frequency: 0/1. (PMID:40412389)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Abnormal circulating C-reactive protein concentration (HP:0032436): Any deviation from the normal concentration of C-reactive protein in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:40412389)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- ST segment elevation (HP:0012251): An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Nephrotic range proteinuria (HP:0012593): Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Decreased hemoglobin concentration (HP:0020062): An abnormal reduction below normal hemoglobin concentration in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Renal interstitial fibrosis (HP:0032948): The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Abnormal circulating interleukin 6 concentration (HP:6000441): Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:40412389)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Elevated gamma-glutamyltransferase level (HP:0030948): 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:40412389)
- Renal tubular atrophy (HP:0000092): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Anti-myeloperoxidase antibody positivity (HP:0033559): The presence of autoantibodies in the blood circulation that react against myeloperoxidase. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Cytokine storm (HP:0033041): Excessive or uncontrolled release of proinflammatory cytokines. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 1/1. (PMID:40412389)
- 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:40412389)