Phenotypes associated with the disease Variegate porphyria (ORPHA:79473):
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79473)
- Abnormal circulating porphyrin concentration (HP:0010472): Any deviation from the normal concentration of porphyrins in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79473)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79473)
- Increased urinary porphobilinogen (HP:0012217): The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79473)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79473)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Elevated urinary delta-aminolevulinic acid (HP:0003163): An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Skin vesicle (HP:0200037): A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79473)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Respiratory paralysis (HP:0002203): Inability to move the muscles of respiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Ileus (HP:0002595): Acute obstruction of the intestines preventing passage of the contents of the intestines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Localized skin lesion (HP:0011355): A lesion of the skin that is located in a specific region rather than being generalized. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Inappropriate antidiuretic hormone secretion (HP:0031218): A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79473)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Abnormality of the liver (HP:0001392): An abnormality of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Paranoia (HP:0011999): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79473)