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Legius syndrome

Neurofibromatosis type 1 overlapping phenotype. See J Med Genet. 46(7):425-430; However different mutation association in SPRED1 protein, human (C504812).
Networked: 28 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Legius, Eric: 5 articles (01/2013 - 01/2010)
2. Brems, Hilde: 3 articles (01/2013 - 01/2011)
3. Niemeyer, Charlotte M: 2 articles (11/2014 - 09/2010)
4. Rankin, Julia: 2 articles (08/2013 - 01/2011)
5. Rauen, Katherine A: 2 articles (01/2013 - 01/2010)
6. Messiaen, Ludwine: 2 articles (11/2012 - 06/2011)
7. Van Minkelen, Rick: 2 articles (11/2012 - 01/2011)
8. Lin, Angela E: 2 articles (03/2012 - 01/2010)
9. Gripp, Karen W: 2 articles (03/2012 - 01/2010)
10. Denayer, Ellen: 2 articles (05/2011 - 01/2011)

Related Diseases

1. Neurofibromatosis 1 (Neurofibromatosis Type I)
2. Noonan Syndrome (Female Pseudo-Turner Syndrome)
3. Costello Syndrome
4. LEOPARD Syndrome (Syndrome, LEOPARD)
5. Neoplasms (Cancer)
05/15/2011 - "Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. "
01/01/2013 - "Individuals with Legius syndrome have multiple CALMs with or without freckling, but they do not show the typical NF1-associated tumors such as neurofibromas or optic pathway gliomas. "
11/01/2014 - "Several of these clinically overlapping disorders, including Noonan syndrome, Noonan-like CBL syndrome, Costello syndrome, cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type I, and Legius syndrome, predispose to cancer and abnormal myelopoiesis in infancy. "
08/01/2013 - "Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies. "
06/01/2011 - "The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) mental retardation or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid tumors and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, Legius syndrome, LEOPARD syndrome, Noonan syndrome, Costello syndrome and cardiofaciocutaneous (CFC) syndrome. "

Related Drugs and Biologics

1. Cardiofaciocutaneous syndrome
2. Neurofibromin 1 (Neurofibromin)
3. Proteins (Proteins, Gene)
4. Protein Kinases (Protein Kinase)
5. Phosphotransferases (Kinase)
6. Phacomatosis pigmentovascularis
7. Neurocutaneous melanosis
8. Wyburn Mason's syndrome
9. Schwannomatosis
10. Blue rubber bleb nevus syndrome