Phenotype | Gene(s) | Disorder | MOI | Key Features of Disorder |
|---|
Cutaneous manifestations1 | CYLD2 | Multiple familial trichoepithelioma (See CYLD Cutaneous Syndrome.) | AD | Cutaneous manifestations may appear similar on clinical exam. |
Multiple endocrine neoplasia type 1 | AD | Facial angiofibromas collagenomas | Ependymomas, meningiomas | — |
PTEN | Cowden syndrome (See PTEN Hamartoma Tumor Syndrome.) | AD | Uterine renal cancers | Trichilemmomas, acral keratoses (must be distinguished histopathologically), mucosal lesions Lung cysts /or pneumothorax |
Cystic fibrosis | AR | Only lung cysts | Progressive obstructive lung disease w/bronchiectasis inflammation COL3A1 | — |
Vascular Ehlers-Danlos syndrome | AD(AR) | Only lung cysts | Spontaneous pneumothoraces may be 1st significant presenting feature; hemothorax, hemopneumothorax, pulmonary blebs, cystic lesions, hemorrhagic or fibrous nodules FBN1 | — |
FBN1-related Marfan syndrome | AD | Lung cysts spontaneous pneumothorax | Lung bullae typically in upper lobes SERPINA1 | — |
Alpha-1 antitrypsin deficiency | See footnote 3. | Only lung cysts | Chronic obstructive pulmonary disease; emphysema, sometimes w/bronchiectasis TSC1 TSC2 | — |
Tuberous sclerosis complex | AD | Lung cysts skin papules (facial angiofibromas) | Additional skin lesions: hypomelanotic macules, confetti skin lesions, shagreen patches, fibrous cephalic plaques, ungual fibromas; pulmonary lymphangioleiomyomatosis Renal cancer4 | BAP1 |
BAP1 tumor predisposition syndrome | AD | Various types of RCC, cutaneous melanoma | Mesothelioma, uveal melanoma FH | — |
FH tumor predisposition syndrome | AD | Various types of renal cancer, cutaneous leiomyoma, uterine fibroids | Renal tumors are usually solitary less likely to be oncocytoma or chromophobe type. MAX SDHA SDHAF2 SDHB SDHC SDHD TMEM127 | — |
Hereditary paraganglioma-pheochromocytoma syndromes | AD | risk for paragangliomas, pheochromocytomas, RCCs incl oncocytic renal tumors | Gastrointestinal stromal tumors | — |
MET | Hereditary papillary renal cancer (OMIM 605074) | AD | Bilateral multifocal type 1 papillary RCC | — |
PTEN | Cowden syndrome (See PTEN Hamartoma Tumor Syndrome.) | AD | Uterine renal cancers, skin papules | Benign hamartomas risks of breast, thyroid, other cancers; other dermatologic features (e.g., lipomas, trichilemmomas, oral papillomas, penile freckling) VHL |
Von Hippel-Lindau syndrome | AD | Bilateral multifocal clear cell RCC; risk for pheochromocytoma | risk for CNS hemangioblastoma, retinal angioma, end... | — |
