Phenotypes associated with the disease inflammatory bowel disease, immunodeficiency, and encephalopathy (OMIM:618213, an entry in Online Mendelian Inheritance in Man):
- Encephalopathy (HP:0001298, a Human Phenotype Ontology term): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. (PMID:29483653)
- Hypsarrhythmia (HP:0002521, a Human Phenotype Ontology term): Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). Evidence: PCS. Frequency: 2/3. (PMID:29483653)
- Thrombocytosis (HP:0001894, a Human Phenotype Ontology term): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. (PMID:29483653)
- Increased circulating IgE concentration (HP:0003212, a Human Phenotype Ontology term): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Focal impaired awareness seizure (HP:0002384, a Human Phenotype Ontology term): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 2/3. (PMID:29483653)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. (PMID:29483653)
- Myoclonic seizure (HP:0032794, a Human Phenotype Ontology term): A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Eosinophilic infiltration of the esophagus (HP:0410151, a Human Phenotype Ontology term): Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Bloody diarrhea (HP:0025085, a Human Phenotype Ontology term): Passage of many stools containing blood. Evidence: PCS. Frequency: 3/3. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:29483653)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. (PMID:29483653)
- Candida esophagitis (HP:0033351, a Human Phenotype Ontology term): Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Perianal abscess (HP:0009789, a Human Phenotype Ontology term): The presence of an abscess located around the anus. Evidence: PCS. Frequency: 1/3. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:29483653)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 3/3. (PMID:29483653)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. (PMID:29483653)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. (PMID:29483653)
- Pancolitis (HP:0033256, a Human Phenotype Ontology term): Inflammation of the entire colon. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Abnormal T cell proliferation (HP:0031379, a Human Phenotype Ontology term): Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. Evidence: PCS. (PMID:29483653)
- Severe varicella zoster infection (HP:0032170, a Human Phenotype Ontology term): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- 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:29483653)
- Decreased T cell activation (HP:0005419, a Human Phenotype Ontology term): Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. Evidence: PCS. (PMID:29483653)
- Recurrent respiratory infections (HP:0002205, a Human Phenotype Ontology term): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Anoperineal fistula (HP:0005218, a Human Phenotype Ontology term): The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. Evidence: IEA. Frequency: 1/3. (PMID:29483653)
- Hypochromic anemia (HP:0001931, a Human Phenotype Ontology term): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Increased circulating IgG concentration (HP:0003237, a Human Phenotype Ontology term): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 1/3. (PMID:29483653)
- Increased total leukocyte count (HP:0001974, a Human Phenotype Ontology term): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 1/3. (PMID:29483653)