Overview
Von Hippel-Lindau Syndrome
What is von Hippel-Lindau disease?
Carney Complex
What is Carney complex?
Carney complex is a hereditary condition associated with spotty skin pigmentation; myxomas, which are benign (noncancerous) connective tissue tumors; and a number of other tumors of the endocrine (hormone-producing) glands. Tumors can be benign or cancerous. A benign tumor means the tumor can grow but will not spread. A cancerous tumor is malignant, meaning it can grow and spread to other parts of the body.
Hereditary Leiomyomatosis and Renal Cell Cancer
What is hereditary leiomyomatosis and renal cell cancer?
Hereditary Diffuse Gastric Cancer
What is hereditary diffuse gastric cancer?
Hereditary diffuse gastric cancer (HDGC) is a rare inherited condition associated with an increased risk of gastric (stomach) cancer.
Hereditary Papillary Renal Carcinoma
What is hereditary papillary renal carcinoma?
Beckwith-Wiedemann Syndrome
What is Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome (BWS) is a growth regulation disorder. The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits. Children with BWS may also have hemihyperplasia, in which some parts of the body are larger on one side than on the other.
Birt-Hogg-Dubé Syndrome
What is Birt-Hogg-Dubé syndrome?
Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple non-cancerous (benign) skin tumors, lung cysts, and an increased risk of kidney lesions (cysts, benign tumors, and kidney cancer.) Symptoms of BHD generally do not appear until adulthood.
Multiple Endocrine Neoplasia Type 2
What is multiple endocrine neoplasia type 2?
Multiple endocrine neoplasia type 2 (MEN2) is a hereditary condition associated with 3 primary types of tumors: medullary thyroid cancer, parathyroid tumors, and pheochromocytoma. MEN2 is classified into subtypes based on clinical features.
-
MEN2A, which affects 95% of MEN2 families. There are 4 variants:
-
Classical MEN2A
-
Medullary thyroid cancer: 98% to 100% with MEN2A are affected
-
-