Phenotypes associated with the disease epidermodysplasia verruciformis, susceptibility to, 5 (OMIM:618309, an entry in Online Mendelian Inheritance in Man):
- Decreased total T cell count (HP:0005403, a Human Phenotype Ontology term): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 3/3. (PMID:25981006)
- Cryptococcal meningitis (HP:0032160, a Human Phenotype Ontology term): A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. Evidence: PCS. Frequency: 2/3. (PMID:25981006)
- Squamous cell carcinoma of the skin (HP:0006739, a Human Phenotype Ontology term): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: PCS. Frequency: 1/3. (PMID:25981006)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:25981006)
- Decreased total lymphocyte count (HP:0001888, a Human Phenotype Ontology term): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 3/3. (PMID:25981006)
- Persistent human papillomavirus infection (HP:0020114, a Human Phenotype Ontology term): Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. Evidence: PCS. (PMID:25981006)
- Verrucae (HP:0200043, a Human Phenotype Ontology term): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. (PMID:25981006)