Cowden syndrome | 158350 | AD | Trichilemmoma | Breast Ca | 10q23.3 | PTEN |
| | | | Thyroid Ca Endometrial Ca | | Phosphatase and tensin homolog |
| | | | | | |
Birt–Hogg–Dube syndrome | 135150 | AD | Fibrofolliculoma Trichodiscoma | Renal cell Ca Colon Ca?* | 17p11.2 | FLCN Folliculin |
| | | | | | |
Naevoid basal cell carcinoma syndrome | 109400 | AD | Basal cell carcinoma | Medulloblastoma | 9q22.3 | PTCH Patched homolog (Drosophila) |
| | | | | | |
Generalised basaloid follicular hamartoma syndrome | 605827 | AD | Basaloid follicular hamartoma | No significant association identified | Not identified | Not identified |
| | | | | | |
Bazex syndrome | 301845 | XLD | Basal cell carcinoma | No significant association identified | Not identified | Not identified |
| | | | | | |
Brooke–Spiegler syndrome | 605041 | AD | Cylindroma Trichoepithelioma | Parotid adenoca | 16q12–q13 | CYLD Cylindromatosis |
| | | Spiradenoma | | | |
| | | | | | |
Familial cylindromatosis | 132700 | AD | Cylindroma | Parotid adenoca | 16q12–q13 | CYLD |
| | | | | | Cylindromatosis |
| | | | | | |
Multiple familial trichoepithelioma | 601606 | AD | Trichoepithelioma | No significant association identified | 9p21 | Not identified |
| | | | | 16q12–q13 | CYLD |
| | | | | | Cylindromatosis |
| | | | | | |
Muir–Torre syndrome | 158320 | AD | Sebaceous adenoma | Colon Ca | 2p22–p21 | MSH2 |
| | | Sebaceous epithelioma Sebaceous carcinoma Keratoacanthoma | Genitourinary Ca | | MutShomolog 2, colon cancer, non-polyposis type 1 (E coli) |
| | | | | | MLH1 |
| | | | | 3p21.3 | MutLhomolog 1, colon cancer, non-polyposis type 2 (E coli) |