- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:147060)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 29/70. (PMID:28803389)
- Eosinophilic infiltration of the esophagus (HP:0410151): 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: 11/17. (PMID:28803389)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:147060)
- Early satiety (HP:0033842): The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. Evidence: PCS. Frequency: 7/70. (PMID:28803389)
- Esophageal food impaction (HP:0031984): A piece of food that has gotten stuck in the esophagus and prevents further swallowing. Evidence: PCS. Frequency: 9/70. (PMID:28803389)
- Odynophagia (HP:0032043): Pain experienced with swallowing. Evidence: PCS. Frequency: 4/70. (PMID:28803389)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. (PMID:18978467)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:147060)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: PCS. Frequency: 13/70. (PMID:28803389)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 10/70. (PMID:28803389)
- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: TAS. (OMIM:147060)
- Eosinophilic infiltration in the stomach mucosa (HP:0410147): Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. Evidence: PCS. Frequency: 7/14. (PMID:28803389)
- Rectal prolapse (HP:0002035): Protrusion of the rectal mucous membrane through the anus. Evidence: PCS. Frequency: 2/70. (PMID:28803389)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 39/90. (PMID:17676033;PMID:33717144;PMID:20159255)
- Gastric ulcer (HP:0002592): An ulcer, that is, an erosion of an area of the gastric mucous membrane. Evidence: PCS. Frequency: 4/23. (PMID:28803389)
- Pulmonary cyst (HP:0032445): A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. Evidence: PCS. Frequency: 47/63. (PMID:20159255)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: PCS. Frequency: 25/58. (PMID:20159255)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 76/99. (PMID:17676033;PMID:33717144;PMID:20159255)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 27/59. (PMID:20159255)
- 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:17881745)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 17/70. (PMID:28803389)
- Duodenal ulcer (HP:0002588): An erosion of the mucous membrane in a portion of the duodenum. Evidence: PCS. Frequency: 3/23. (PMID:28803389)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: PCS. Frequency: 8/8. (PMID:17676033)
- Pleural empyema (HP:0011919): Accumulation of pus in the pleural cavity. Evidence: PCS. Frequency: 3/27. (PMID:33717144)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 99/105. (PMID:17676033;PMID:33717144;PMID:28803389)
- Esophageal stricture (HP:0002043): A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. Evidence: PCS. Frequency: 2/23. (PMID:28803389)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: IEA. (OMIM:147060)
- Intestinal perforation (HP:0031368): A hole (perforation) in the wall of the intestine. Evidence: PCS. Frequency: 4/70. (PMID:28803389)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: PCS. Frequency: 29/35. (PMID:17676033;PMID:33717144)
- Candida esophagitis (HP:0033351): 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: 4/70. (PMID:28803389)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: IEA. (OMIM:147060)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 27/59. (PMID:20159255)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 6/70. (PMID:28803389)
- Esophageal diverticulum (HP:0100628): The presence of a diverticulum of the esophagus. Evidence: PCS. Frequency: 2/23. (PMID:28803389)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 31/61. (PMID:17676033;PMID:20159255)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 68/72. (PMID:17676033;PMID:20159255)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: PCS. Frequency: 47/63. (PMID:17676033;PMID:20159255)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 5/70. (PMID:28803389)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:18978467)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 65/93. (PMID:17676033;PMID:33717144;PMID:20159255)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 22/70. (PMID:28803389)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 17/85. (PMID:17676033;PMID:33717144;PMID:20159255)
- Esophageal furrows (HP:0031858): Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). Evidence: PCS. Frequency: 1/23. (PMID:28803389)
- Colonic diverticula (HP:0002253): The presence of multiple diverticula of the colon. Evidence: PCS. Frequency: 2/70. (PMID:28803389)
- Esophageal ulceration (HP:0004791): Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. Evidence: PCS. Frequency: 6/23. (PMID:28803389)
- Increased hepatic echogenicity (HP:0031141): Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. Evidence: PCS. Frequency: 6/25. (PMID:28803389)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 17/35. (PMID:17676033;PMID:33717144)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: PCS. (PMID:17881745)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 37/57. Onset: Neonatal onset (HP:0003623). (PMID:20159255)
- Recurrent cutaneous abscess formation (HP:0100838): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: PCS. Frequency: 58/64. (PMID:20159255)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:147060)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. (OMIM:147060)
These phenotypes are associated with the disease hyper-IgE recurrent infection syndrome 1, autosomal dominant (OMIM:147060).