RASopathy
The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:
- Capillary malformation-AV malformation syndrome
- Autoimmune lymphoproliferative syndrome
- Cardiofaciocutaneous syndrome
- Hereditary gingival fibromatosis type 1
- Neurofibromatosis type 1
- Noonan syndrome
- Costello syndrome, Noonan-like[1]
- Legius syndrome, Noonan-like
- Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like
References
- ^ Schuhmacher AJ, Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition". J. Clin. Invest. 118 (6): 2169–79. doi:10.1172/JCI34385. PMC 2381749. PMID 18483625.
External links
- RASopathies Network USA, founded 2010 rasopathiesnet.org, accessed February 27, 2014
- About RAS Pathway Syndromes RASopathy Network, RAS-Pathway-syndromes.com, accessed February 27, 2014.
Categories:
- 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