- Conjunctival hyperemia (HP:0030953): Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. Evidence: PCS. Frequency: 11/25. (PMID:11115159)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: PCS. Frequency: 10/25. (PMID:11115159)
- Erysipelas (HP:0001055): Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. Evidence: PCS. Frequency: 7/158. (PMID:23965844)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: IEA. (OMIM:142680)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 41/158. (PMID:23965844)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 9/158. (PMID:23965844)
- Oligoarthritis (HP:0040313): A type of arthritis that affects up to four joints in the first six months of disease. Evidence: PCS. Frequency: 15/158. (PMID:23965844)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 21/158. (PMID:23965844)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 17/25. (PMID:11115159)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. Frequency: 3/158. (PMID:23965844)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 131/183. (PMID:23965844;PMID:11115159)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: IEA. (OMIM:142680)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 6/158. (PMID:23965844)
- Polyarticular arthritis (HP:0005764). Evidence: PCS. Frequency: 2/158. (PMID:23965844)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 28/158. (PMID:23965844)
- AA amyloidosis (HP:4000041): Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. Evidence: PCS. Frequency: 16/158. Onset: Adult onset (HP:0003581). (PMID:23965844)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 114/183. (PMID:23965844;PMID:11115159)
- Periorbital edema (HP:0100539): Edema affecting the region situated around the orbit of the eye. Evidence: PCS. Frequency: 43/183. (PMID:23965844;PMID:11115159)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: PCS. Frequency: 41/158. (PMID:23965844)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 35/158. (PMID:23965844)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: PCS. Frequency: 3/158. (PMID:23965844)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 157/183. (PMID:23965844;PMID:11115159)
- Hepatic amyloidosis (HP:0012280): A form of amyloidosis that affects the liver. Evidence: TAS. (OMIM:142680)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. (PMID:11115159)
- 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:10199409)
- 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: 132/183. (PMID:23965844;PMID:11115159)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 28/158. (PMID:23965844)
These phenotypes are associated with the disease TNF receptor 1-associated periodic fever syndrome (OMIM:142680).