NOP10 gene

From WikiMD.org
Jump to navigation Jump to search
NOP10 gene
TermNOP10 gene
Short definitionNoonan 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 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
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

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski