- 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: Frequent (HP:0040282). (ORPHA:101330)
- Abnormal erythrocyte enzyme concentration or activity (HP:0030272): An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Decreased circulating hepcidin concentration (HP:0031876): Concentration of hepcidin in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Exacerbated by tobacco use (HP:0032500): Applied to a sign or symptom that is worsened by smoking tobacco products. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101330)
- Addictive alcohol use (HP:0030955): An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Chronic hepatitis (HP:0200123): Hepatitis that lasts for more than six months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Hematological neoplasm (HP:0004377): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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: Very frequent (HP:0040281). (ORPHA:101330)
- 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: Very frequent (HP:0040281). (ORPHA:101330)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101330)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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:101330)
- 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:101330)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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:101330)
- Corneal scarring (HP:0000559). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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:101330)
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Hepatic lobular inflammation (HP:0033197): Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- Portal inflammation (HP:0033196): Infiltration of portal fields by inflammatory cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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:101330)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101330)
- 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:101330)
- Increased fecal porphyrin (HP:0032999): Abnormally high concentration of fecal porphyrins in feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
- 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:101330)
- Elevated circulating iron concentration (HP:0003452): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101330)
- Viral hepatitis (HP:0006562): Inflammation of the liver due to infection with a virus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101330)
These phenotypes are associated with the disease Porphyria cutanea tarda (ORPHA:101330).