... sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or a condition called ... development of several organs, including the kidneys and pancreas. Studies suggest ... are found in people with abnormalities of the kidneys and other structures of the ...

... to impaired function of the bone marrow and pancreas. Affected individuals also have skeletal abnormalities and a higher-than-average chance of developing ...

... in a tumor, often in the colon or pancreas. SMAD4 gene mutations have also been identified in a small number of individuals with juvenile polyposis and blood vessel abnormalities other than hereditary hemorrhagic telangiectasia (described above). These ...

... Autoimmune disorders are a group of immune system abnormalities in which the ... in the pancreas (type 1 diabetes), red blood cells (autoimmune hemolytic ...

... the development of several types of cancer, particularly pancreatic and colorectal cancers. These mutations lead to a ... homolog Tests of KRAS PubMed COLORECTAL CANCER; CRC PANCREATIC CANCER KRAS PROTOONCOGENE, GTPase; KRAS NCBI Gene ClinVar ...

... is also associated with ovarian, breast, cervical, endometrial, pancreatic, lung, and head and neck cancers. bacteria-expressed ...

... autoimmune damage to insulin-producing cells in the pancreas.Type 1 diabetes risk is most increased by ...

... of the colon and rectum, stomach, breast, and pancreas. Studies suggest that EP300 mutations may also play ...

... and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved ... up the eye. The mutations that cause this abnormality occur in one copy of the PAX6 gene ...

... in several tissues, including those of the liver, pancreas, kidney, and nervous system. In the nervous system, ... by GJB1 gene mutations. These central nervous system abnormalities do not generally cause any symptoms. Research suggests ...