Phenotypes associated with the disease Idiopathic small fibers neuropathy (ORPHA:658549):
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:658549)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Hypohidrosis or hyperhidrosis (HP:0007550). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Autonomic erectile dysfunction (HP:0008652): Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Hypoesthesia (HP:0033748): Decreased ability to perceive touch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:658549)
- Functional abnormality of the bladder (HP:0000009): Dysfunction of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Gastrointestinal dysmotility (HP:0002579): Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Orthostatic hypotension due to autonomic dysfunction (HP:0004926). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Restless legs (HP:0012452): An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Allodynia (HP:0012533): Pain due to a stimulus that does not normally provoke pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Abnormal large intestine physiology (HP:0012700): A functional anomaly of the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Coldness (HP:0033850): Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)
- Decreased circulating vitamin B12 concentration (HP:0100502): The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:658549)