Phenotypes associated with the disease periodic fever-infantile enterocolitis-autoinflammatory syndrome (OMIM:616050):
- Short stature (HP:0004322): 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: 2/3. (PMID:25217960)
- Enterocolitis (HP:0004387): An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:25217960)
- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/3. (PMID:25217960)
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 2/3. (PMID:25217960)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 3/3. (PMID:25217960)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:25217959)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. Frequency: 1/1. (PMID:25217959)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:25217959)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 2/3. Onset: Neonatal onset (HP:0003623). (PMID:25217960)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/3. (PMID:25217960)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:25217959)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:25217960)
- 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: 2/3. (PMID:25217960)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: PCS. Frequency: 1/1. (PMID:25217959)
- Disseminated intravascular coagulation (HP:0005521): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: PCS. (PMID:25217960)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: IEA. (PMID:25217960)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:25217959;PMID:25217960)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:25217959)
- 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: 4/4. (PMID:25217959;PMID:25217960)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. (PMID:25217960)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 3/3. (PMID:25217960)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: IEA. Frequency: 1/1. (PMID:25217959)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 1/3. (PMID:25217960)
- 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:25217959)