- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: PCS. (PMID:8734663)
- 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: 75/89. (PMID:18234728)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 2/51. (PMID:18234728)
- Large intestinal polyposis (HP:0030255): The presence of multiple polyps in the large intestine. Evidence: PCS. (PMID:9835964)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: PCS. Frequency: 30/51. (PMID:18234728)
- Sebaceous hyperplasia (HP:0032227): A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. Evidence: PCS. Frequency: 4/51. (PMID:18234728)
- Trichodiscoma (HP:0032228): A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. Evidence: PCS. Frequency: 9/51. (PMID:18234728)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. (OMIM:135150)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: IEA. Frequency: 27/51. (PMID:18234728)
- Cutaneous leiomyoma (HP:0007620): The presence of leiomyoma of the skin. Evidence: PCS. Frequency: 1/51. (PMID:18234728)
- Multiple pulmonary cysts (HP:0005948): The presence of multiple lung cysts. Evidence: PCS. (PMID:28830849)
- 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:18234728)
- Renal neoplasm (HP:0009726): The presence of a neoplasm of the kidney. Evidence: IEA. (OMIM:135150)
- Cutaneous leiomyosarcoma (HP:0006755): The presence of leiomyosarcoma of the skin. Evidence: PCS. Frequency: 1/51. (PMID:18234728)
These phenotypes are associated with the disease Birt-Hogg-Dube syndrome 1 (OMIM:135150).