- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. (OMIM:175100)
- Hepatoblastoma (HP:0002884): A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. Evidence: PCS. Frequency: 2/470. (PMID:1329510)
- Carcinoma (HP:0030731): A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). Evidence: IEA. (OMIM:175100)
- Duodenal polyposis (HP:0004783): Presence of multiple polyps in the duodenum. Evidence: PCS. Frequency: 90%. (https://www.ncbi.nlm.nih.gov/books/NBK1345/)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: PCS. Frequency: 2/31. (PMID:31062380)
- Osteoma (HP:0100246): Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. Evidence: PCS. Frequency: 3/31. (PMID:31062380)
- Odontoma (HP:0011068): The presence of an odontoma. Evidence: TAS. (OMIM:175100)
- Duodenal adenocarcinoma (HP:0006771): A malignant epithelial tumor with a glandular organization that originates in the duodenum. Evidence: PCS. Frequency: 5%. (PMID:14960520)
- Adrenocortical adenoma (HP:0008256): Adrenocortical adenomas are benign tumors of the adrenal cortex. Evidence: PCS. Frequency: 13%. (PMID:11156460)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. (OMIM:175100)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 31/31. (PMID:31062380)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:175100)
- Congenital hypertrophy of retinal pigment epithelium (HP:0007649): Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral. Evidence: PCS. Frequency: 37/41. (PMID:3821797)
- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: PCS. Frequency: 6%. (PMID:22425061)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 7/31. (PMID:31062380)
- Fibroadenoma of the breast (HP:0010619): A benign biphasic tumor of the breast with epithelial and stromal components. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:175100)
- Multiple gastric polyps (HP:0004394). Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:175100)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:175100)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:175100)
- Gastrointestinal desmoid tumor (HP:0100245): Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. Evidence: PCS. Frequency: 10%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fap)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: TAS. (OMIM:175100)
- Keloids (HP:0010562). Evidence: TAS. (OMIM:175100)
- Eruption failure (HP:0000706): A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:175100)
- Adrenocortical carcinoma (HP:0006744): A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. Evidence: TAS. (OMIM:175100)
- 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:31062380)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: PCS. Frequency: 1%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fap)
- Small intestine carcinoid (HP:0006722). Evidence: TAS. (OMIM:175100)
These phenotypes are associated with the disease familial adenomatous polyposis 1 (OMIM:175100).