- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:133020)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:14985375)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. (OMIM:133020)
- Erythromelalgia (HP:0032147): Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. Evidence: PCS. (PMID:14985375)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:133020)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. (OMIM:133020)
- Jaw pain (HP:0040264): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. Evidence: TAS. (OMIM:133020)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. (OMIM:133020)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:133020)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: IEA. (OMIM:133020)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. (OMIM:133020)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. (OMIM:133020)
- 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:14985375)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. (OMIM:133020)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. (OMIM:133020)
These phenotypes are associated with the disease primary erythermalgia (OMIM:133020).