The RASopathies are developmental syndromes caused by

germline In biology and genetics, the germline is the population of a multicellular organism's cells that pass on their genetic material to the progeny (offspring). In other words, they are the cells that form the egg, sperm and the fertilised egg. They ...

mutations (or in rare cases by somatic mosaicism) in genes that alter the

Ras subfamily Ras, from "Rat sarcoma virus", is a family of related proteins that are expressed in all animal cell lineages and organs. All Ras protein family members belong to a class of protein called small GTPase, and are involved in transmitting signals ...

and

mitogen-activated protein kinase A mitogen-activated protein kinase (MAPK or MAP kinase) is a type of protein kinase that is specific to the amino acids serine and threonine (i.e., a serine/threonine-specific protein kinase). MAPKs are involved in directing cellular responses ...

s that control

signal transduction Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellular ...

, including: * Capillary malformation-AV malformation syndrome *

Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Normal ...

Cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It is characterized by the following: *Distinctive facial appearance *Unusually sparse, brittle, curly scal ...

* Hereditary gingival fibromatosis type 1 *

Neurofibromatosis type 1 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown ...

Noonan syndrome Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored ...

* Costello syndrome, Noonan-like * Legius syndrome, Noonan-like * Noonan syndrome with multiple

lentigines A lentigo () (plural lentigines, ) is a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread. This means the hyperplasi ...

, formerly called

LEOPARD syndrome Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (''P ...

, Noonan-like * SYNGAP1-related intellectual disability

References

{{Medicine, state=collapsed Autosomal dominant disorders Congenital vascular defects Deficiencies of intracellular signaling peptides and proteins Developmental neuroscience Enzyme defects Genodermatoses Gross pathology Lymphocytic immune system disorders Melanocytic nevi and neoplasms Neuro-cardio-facial-cutaneous syndromes Neurological disorders Syndromes RASopathies Valvular heart disease