📂 Diseases
autosomal recessive dyskeratosis congenita 2 — Definition
Otozomal resesif diskeratozis konjenita tip 2 / autosomal recessive dyskeratosis congenita 2
Otozomal resesif discotozis congenita type 2 is a rare genetic disease caused by disorders in telomer biology. The disease is characterized by classic triple findings such as reticular pigmentation, nail dystrophy and oral leukoplaki on the skin. In addition, severe systemic complications such as bone marrow failure, pulmonary fibrosis and cancer predisposition can also be seen. This type is especially associated with resessive mutations in TERT, TERC or RTEL1 genes.
Frequently Asked Questions
❓ What is Otozomal resesif diskeratozis konjenita tip 2?
Otozomal resesif diskeratozis konjenita tip 2; otozomal resesif discotozis congenita type 2 is a rare genetic disease caused by disorders in telomer biology. The disease is characterized by classic triple findings such as reticular pigmentation, nail dystrophy and oral leukoplaki on the skin. In addition, severe systemic complications such as bone marrow failure, pulmonary fibrosis and cancer predisposition can also be seen. This type is especially associated with resessive mutations in TERT, TERC or RTEL1 genes.
❓ What is autosomal recessive dyskeratosis congenita 2 in Turkish?
The Turkish equivalent of "autosomal recessive dyskeratosis congenita 2" is Otozomal resesif diskeratozis konjenita tip 2.
❓ Which medical field is Otozomal resesif diskeratozis konjenita tip 2 related to?
This term belongs to the Diseases category.