Phenotypes associated with the disease Birt-Hogg-Dube syndrome 2 (OMIM:620459):
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: PCS. Frequency: 7/7. (PMID:36440963)
- Fibrofolliculoma (HP:0030436): Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. Evidence: PCS. Frequency: 5/7. (PMID:36440963)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:36440963)
- Clear cell renal cell carcinoma (HP:0006770): A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. Evidence: PCS. Frequency: 3/7. (PMID:36440963)
- Perifollicular fibroma (HP:0032225): Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. Evidence: PCS. Frequency: 5/7. (PMID:36440963)
- Pulmonary cyst (HP:0032445): A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. Evidence: PCS. Frequency: 0/3. (PMID:36440963)
- 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:36440963)