- 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:79273)
- Elevated urinary delta-aminolevulinic acid (HP:0003163): An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79273)
- 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:79273)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- 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:79273)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- 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: Frequent (HP:0040282). (ORPHA:79273)
- Dark urine (HP:0040319): An abnormal dark color of the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79273)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- 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: Occasional (HP:0040283). (ORPHA:79273)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- 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:79273)
- 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: Occasional (HP:0040283). (ORPHA:79273)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- 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:79273)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Extension of hair growth on temples to lateral eyebrow (HP:0005325): A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- 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: Occasional (HP:0040283). (ORPHA:79273)
- Long hairs growing from helix of pinna (HP:0008528). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Facial hirsutism (HP:0009937): Excess facial hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
- Small intestinal dysmotility (HP:0012850): Abnormal small 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:79273)
- Intrusion symptom (HP:0032936): Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79273)
These phenotypes are associated with the disease Hereditary coproporphyria (ORPHA:79273).
The following phenotypes are NOT associated with this disease:
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. (ORPHA:79273)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (ORPHA:79273)