Phenotypes associated with the disease familial cold autoinflammatory syndrome 1 (OMIM:120100):
- Chills (HP:0025143): A sudden sensation of feeling cold. Evidence: PCS. (PMID:10741953)
- 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:31777803)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/1. (PMID:31777803)
- Cold urticaria (HP:0410135): Urticaria may be caused by cold temperatures. Evidence: PCS. (PMID:11687797)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:10741953)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. (PMID:10741953)
- 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: 11/11. (PMID:31777803;PMID:10741953)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 11/11. (PMID:31777803;PMID:10741953)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 11/11. (PMID:31777803;PMID:11687797)
- Renal amyloidosis (HP:0001917): A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). Evidence: PCS. Frequency: 1/26. Onset: Late onset (HP:0003584). (PMID:10741953)
- Aphthous ulcer (HP:0032154): Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 1/1. (PMID:31777803)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. (PMID:11687797)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. (PMID:11687797)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. (PMID:31777803)
- 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. (PMID:10741953)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. Frequency: 1/1. (PMID:31777803)
- 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:11687797)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. (PMID:10741953)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. (PMID:10741953)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 1/1. (PMID:31777803)