| Syndrome |
Affected Gene |
Mode of Inheritance |
Increased Risk for: |
Other System Neoplasms |
Extra–Nervous System Manifestations |
| Glioma |
Medulloblastoma |
Meningioma |
Other |
| Neurofibromatosis type 1 |
NF1 |
AD |
X |
|
|
X |
Optic pathway glioma, pilocytic astrocytoma, meningioma, benign and malignant peripheral nerve sheath tumors |
Café au lait macules, intertriginous freckling, bony dysplasia, iris hamartomas, breast cancer, pheochromocytoma, moyamoya disease, cognitive delay |
| Neurofibromatosis type 2 |
NF2 |
AD |
X |
|
X |
X |
Meningioma, vestibular schwannoma, ependymoma, astrocytoma |
Juvenile posterior subcapsular cataracts |
| Familial schwannomatosis |
SMARCB1/INI1, LZTR1 |
AD |
|
|
X |
X |
Schwannoma, meningioma |
|
| Tuberous sclerosis |
TSC1, TSC2 |
AD |
X |
|
|
|
Ependymoma, subependymal giant cell astrocytoma, retinal astrocytoma |
Renal angiomyolipoma, myocardial rhabdomyoma, renal carcinoma, renal cysts, facial angiofibroma, gingival fibroma |
| Von Hippel-Lindau disease |
VHL |
AD |
|
|
|
X |
Cerebellar hemangioblastoma, spinal cord hemangioblastoma |
Pulmonary, renal, liver hemangioma, pancreatic and renal hemangioblastoma, bilateral papillary cystadenoma of the epididymis, renal cell carcinoma, hypernephroma, paraganglioma, pheochromocytoma, pancreatic cancer, adenocarcinoma of ampulla of Vater |
| Li-Fraumeni syndrome |
TP53 |
AD |
X |
|
|
|
Astrocytoma, glioblastoma |
Rhabdomyosarcoma, soft tissue sarcoma, osteosarcoma, breast cancer, leukemia, melanoma, adrenocortical carcinoma, lymphocytic or histiocytic lymphoma, lung adenocarcinoma, gonadal germ cell tumors, prostate and pancreatic carcinoma |
| Cowden disease |
PTEN |
AD |
|
|
|
X |
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) |
Facial trichilemmomas, cutaneous neoplasms, intestinal hamartomas, risk for breast cancer, thyroid adenomas/carcinomas |
| Gorlin syndrome |
PTCH, PTCH1 |
AD |
|
X |
|
|
Cerebellar medulloblastoma |
Basal cell nevi, basal cell carcinoma, cardiac fibroma, odontogenic keratocyst or polyostotic bone cyst, palmar or plantar pits, ectopic calcification, ovarian fibromas, ovarian carcinoma |
| Turcot syndrome |
hMSH2, hMLH1, hPMS2, APC |
AD |
X |
X |
|
|
Medulloblastoma, glioblastoma, astrocytoma, ependymoma |
Familial adenomatous polyposis (medulloblastoma), hereditary nonpolyposis colon cancer (glioblastoma), basal cell carcinoma, gastric carcinoma |
| Carney complex |
PRKAR1A |
AD |
|
|
|
X |
Pituitary adenomas, psammomatous melanotic schwannoma |
Eyelid and atrial myxoma, myxoid subcutaneous tumors, testicular Sertoli cell tumor, pituitary adenoma, pheochromocytoma, mammary ductal fibroadenoma |
| Rhabdoid tumor predisposition syndrome |
SMARCB1/INI1 |
|
|
|
|
X |
Malignant rhabdoid tumors (i.e., AT/RT) |
|
| Melanoma-astrocytoma syndrome |
CMM1, CMM2 or CDKN2A, CDK4 |
AR |
X |
|
|
|
Cerebral astrocytoma and other CNS tumors |
Early-age melanoma, dysplastic nevi |
| Ataxia-telangiectasia |
ATM |
AR |
X |
X |
|
|
Glioma, medulloblastoma |
Cerebellar ataxia, choreoathetosis, spinal muscular atrophy, cutaneous and conjunctival telangiectasias, variable immunodeficiency, risk for lymphoma, gastric cancer, and breast cancer |
| Multiple endocrine neoplasia |
MEN1 |
AD |
|
|
|
X |
Pituitary adenomas |
Pancreatic islet cell adenomas, parathyroid hyperplasia or adenomas |
| Retinoblastoma |
RB1 |
AD |
|
|
|
X |
Pineoblastoma (trilateral retinoblastoma) |
Retinoblastoma, osteosarcoma, other malignant cancers |