Phenotypes associated with the disease cutaneous porphyria (OMIM:263700):
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. (OMIM:263700)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:263700)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:263700)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: IEA. (OMIM:263700)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- Loss of eyelashes (HP:0011457): This term refers to the loss of eyelashes that were previously present. Evidence: TAS. (OMIM:263700)
- Reduced erythrocyte uroporphyrinogen III cosynthase activity (HP:6000514): Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal. Evidence: PCS. (PMID:3674403)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. (OMIM:263700)
- Increased fecal coproporphyrin 1 (HP:0033009): Abnormally high concentration of coproporphyrin 1 in feces. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- Erythrodontia (HP:0030756): Reddish, brown opalescent discoloration of teeth in normal light. Evidence: TAS. Frequency: 20/20. (OMIM:263700)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. (OMIM:263700)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: IEA. (OMIM:263700)
- Pink urine (HP:0032001): An abnormal pink color of urine. Evidence: IEA. (OMIM:263700)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: IEA. (OMIM:263700)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:263700)
- Corneal scarring (HP:0000559). Evidence: IEA. (OMIM:263700)
- Vertebral compression fracture (HP:0002953). Evidence: IEA. (OMIM:263700)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: IEA. (OMIM:263700)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: IEA. (OMIM:263700)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- Red urine (HP:0040318): An abnormal red color of the urine. Evidence: PCS. Frequency: 2/2. (PMID:2331520)
- 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: IEA. (OMIM:263700)
- Elevated circulating uroporphyrin concentration (HP:0034905): Concentration of uroporphyrin in the blood circulation above the upper limit of normal. Evidence: TAS. (OMIM:263700)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: IEA. (OMIM:263700)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:263700)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:263700)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: IEA. (OMIM:263700)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 1/2. (PMID:2331520)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:2331520)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/2. (PMID:2331520)