Phenotypes associated with the disease sporadic porphyria cutanea tarda (OMIM:176090):
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: IEA. (OMIM:176090)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. (OMIM:176090)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: IEA. (OMIM:176090)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: IEA. (OMIM:176090)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:176090)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: IEA. (OMIM:176090)
- 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: IEA. (OMIM:176090)
- 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: IEA. (OMIM:176090)