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Noonan Syndrome (Female Pseudo-Turner Syndrome)

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
Also Known As:
Female Pseudo-Turner Syndrome; Male Turner Syndrome; Turner's Syndrome, Male; Female Pseudo Turner Syndrome; Male Turner Syndromes; Male Turner's Syndrome; Pseudo-Turner Syndrome, Female; Syndrome, Female Pseudo-Turner; Syndrome, Male Turner; Syndrome, Male Turner's; Syndrome, Noonan; Syndromes, Male Turner; Turner Syndromes, Male; Turners Syndrome, Male; Turner Syndrome, Male
Networked: 298 relevant articles (8 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Chylothorax
2. Juvenile Myelomonocytic Leukemia
3. Obstructive Sleep Apnea
4. Myeloproliferative Disorders (Myeloproliferative Disorder)
5. Hypertrophy

Experts

1. Tartaglia, Marco: 27 articles (11/2015 - 10/2002)
2. Gelb, Bruce D: 20 articles (11/2015 - 10/2002)
3. Zenker, Martin: 15 articles (11/2015 - 12/2006)
4. Zampino, Giuseppe: 12 articles (11/2015 - 10/2002)
5. Neel, Benjamin G: 10 articles (11/2015 - 08/2004)
6. Dallapiccola, Bruno: 9 articles (11/2015 - 12/2004)
7. Martinelli, Simone: 9 articles (11/2015 - 02/2006)
8. Rossi, Cesare: 8 articles (11/2015 - 08/2007)
9. Aoki, Yoko: 7 articles (01/2015 - 07/2003)
10. Roberts, Amy E: 6 articles (11/2015 - 01/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Noonan Syndrome:
1. Growth Hormone (Somatotropin)IBA
2. Human Growth Hormone (Saizen)FDA LinkGeneric
3. Prednisone (Sone)FDA LinkGeneric
4. DiureticsIBA
5. Protein Kinases (Protein Kinase)IBA
6. Cardiofaciocutaneous syndromeIBA
7. Noonan like syndromeIBA
8. Phosphotransferases (Kinase)IBA
08/01/2007 - "Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. "
01/01/2007 - "SHP2 is required for RAS-ERK MAP kinase (MAPK) cascade activation, and Noonan syndrome mutants enhance ERK activation ex vivo and in mice. "
10/14/2005 - "Recent studies indicate that dysregulation of mitogen-activated protein kinase (MAPK) signaling might play a major role in the pathogenesis of congenital valvular malformations, and, in this study, we explored the role of extracellular signal-regulated kinase (ERK) 1/2 activation in valve primordia expressing the Noonan syndrome mutation Q79R-Shp2. "
11/01/2015 - "Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. "
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. "
9. HormonesIBA
10. Factor XI (Plasma Thromboplastin Antecedent)IBA

Therapies and Procedures

1. Adenoidectomy
2. Hematopoietic Stem Cell Transplantation
3. General Anesthesia
4. Ligation
5. Cesarean Section (Caesarean Section)