NOP10 gene
NOP10 gene | |
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Term | NOP10 gene |
Short definition | Noonan Syndrome - (pronounced) (NOO-nun SIN-drome) A genetic disorder characterized by unusual facial features, shorter than normal, learning problems, heart defects, bleeding problems, defects in the skeleton (body bones), and fertility problems in males. People with Noonan syndrome have an increased risk of certain types of cancer, such as rhabdomyosarcoma (a soft tissue tumor), neuroblastoma (cancer of immature nerve cells), and some types of leukemia |
Type | Cancer terms |
Specialty | Oncology |
Language | English |
Source | NCI |
Comments |
NOP10 gene - A gene that makes a protein involved in the formation of ribosomes (protein-making structures inside cells) and the maintenance of telomeres (the ends of chromosomes). Mutations (changes) in the NOP10 gene have been found in a rare inherited disease called dyskeratosis congenita, which causes abnormal changes in the skin and nails and white patches in the mouth. People with this condition are at increased risk of bone marrow failure (a condition in which the bone marrow does not make enough blood cells), myelodysplastic syndrome, pulmonary fibrosis (scarring of the lungs), and certain types of cancer
External links
- Medical encyclopedia article on NOP10 gene
- Wikipedia's article - NOP10 gene
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