Phenotypes associated with the disease Pelger-Huet-like anomaly and episodic fever with abdominal pain (OMIM:260570):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:31201888)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 2/3. (PMID:31201888)
- Paronychia (HP:0001818): The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- Autosomal recessive inheritance (HP:0000007): 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:31201888)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- Recurrent abscess formation (HP:0002722): An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- Impaired neutrophil chemotaxis (HP:0040238): An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response. Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- 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: 3/3. (PMID:31201888)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 3/3. (PMID:31201888)
- Hyposegmentation of neutrophil nuclei (HP:0011447): Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. Evidence: PCS. Frequency: 3/3. (PMID:31201888)