Syndromes with tumors

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels

sex differentiation condition involving hormonal resistance due to androgen receptor dysfunction in a karyotypically male person

Human disease

congenital disorder of digestive system

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations

rare genetic disorder with short strature and predisposition to cancer

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch

syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye

bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts

an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma

human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts

congenital disorder of digestive system

characterized by pleural effusion, ascites and non-malignant ovarian neoplasm

autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity

human disease

Human disease

a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple cavernous hemangiomas and phleboliths

human disease

rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia

Human disease

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

Human disease