- 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: PCS. Frequency: 1/1. (PMID:2920211)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:176100)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: IEA. (OMIM:176100)
- Hyperpigmentation in sun-exposed areas (HP:0005586). Evidence: IEA. (OMIM:176100)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: IEA. (OMIM:176100)
- Reduced uroporphyrinogen decarboxylase activity (HP:0034715): Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal. Evidence: TAS. (OMIM:176100)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. (OMIM:176100)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: PCS. Frequency: 1/1. (PMID:2920211)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: IEA. (OMIM:176100)
- 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:2920211)
- Facial hypertrichosis (HP:0002219): Excessive, increased hair growth located in the facial region. Evidence: IEA. (OMIM:176100)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:2920211)
- 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: IEA. (OMIM:176100)
These phenotypes are associated with the disease familial porphyria cutanea tarda (OMIM:176100).