RASopathy
Encyclopedia
The RASopathies are developmental syndromes caused by germline
mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase
that control Signal transduction
, including:
Germline
In biology and genetics, the germline of a mature or developing individual is the line of germ cells that have genetic material that may be passed to a child.For example, gametes such as the sperm or the egg, are part of the germline...
mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase
Mitogen-activated protein kinase
Mitogen-activated protein kinases are serine/threonine-specific protein kinases that respond to extracellular stimuli and regulate various cellular activities, such as gene expression, mitosis, differentiation, proliferation, and cell survival/apoptosis.-Activation:MAP kinases are activated...
that control Signal transduction
Signal transduction
Signal transduction occurs when an extracellular signaling molecule activates a cell surface receptor. In turn, this receptor alters intracellular molecules creating a response...
, including:
- Capillary malformation-AV malformation syndromeArteriovenous malformationArteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital. This pathology is widely known because of its occurrence in the central nervous system, but can appear in any location. An arteriovenous malformation is a vascular anomaly. It is a...
- Autoimmune lymphoproliferative syndromeAutoimmune lymphoproliferative syndromeAutoimmune lymphoproliferative syndrome is a form of lymphoproliferative disorder. It affects lymphocyte apoptosis. It is a RASopathy.-Introduction:...
- Costello syndromeCostello syndromeCostello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and mental retardation, distinctive facial features, unusually flexible joints, and loose folds of extra skin,...
- Hereditary Gingival fibromatosis type 1Gingival fibromatosis with hypertrichosisGingival fibromatosis with hypertrichosis is a cutaneous condition characterized by dark terminal hairs on the peripheral face, central back, and extremities. It is a RASopathy....
- Legius syndromeLegius syndromeLegius syndrome is an autosomal dominant condition characterized by cafe au lait spots. It is often mistaken for Neurofibromatosis type I . It is caused by mutations in the SPRED1 gene. It is also known as Neurofibromatosis Type 1-like syndrome .The syndrome is named after Eric Legius,...
- LEOPARD syndromeLeopard syndromeLEOPARD syndrome - is part of a group called Ras/MAPK pathway syndromes - is a rare autosomal dominant, multisystem disease caused by a...
- Neuro-cardio-facial-cutaneous syndromesNeuro-cardio-facial-cutaneous syndromesNeuro-cardio-facial-cutaneous-syndromes , is a group of developmental disorders with a genetic ground, affecting the nervous system, circulatory system, facial and cutaneous development...
- Neurofibromatosis type 1
- Noonan syndromeNoonan syndromeNoonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...