Noonan Syndrome (Female Pseudo-Turner Syndrome)

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113 relevant articles (3 outcomes, 6 trials/studies) found for this Disease

Description: A 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. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Also Known As:

Female Pseudo-Turner Syndrome; Male Turner Syndrome; Turner's Syndrome, Male; Female Pseudo Turner Syndrome; Female Pseudo-Turner Syndromes; Male Turner's Syndrome; Pseudo-Turner Syndrome, Female; Pseudo-Turner Syndromes, Female; Syndrome, Female Pseudo-Turner; Syndromes, Female Pseudo-Turner; Turners Syndrome, Male; Turner Syndrome, Male

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 83

Musculoskeletal Abnormalities: 17

Craniofacial Abnormalities: 63

Noonan Syndrome: 113

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 421

Congenital Abnormalities: 9330

Musculoskeletal Abnormalities: 17

Craniofacial Abnormalities: 63

Noonan Syndrome: 113

Skin and Connective Tissue Diseases

Connective Tissue Diseases: 1632

Noonan Syndrome: 113

Related Diseases

1.	Syndrome
2.	Chylothorax
3.	Turner Syndrome (Turner's Syndrome)
4.	Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
5.	Neurofibromatosis 1 (Neurofibromatosis Type I)

Experts

1.	Noordam, C: 3 articles (09/2008 - 01/2001)
2.	Otten, B J: 3 articles (09/2008 - 01/2001)
3.	Ferreira, Lize V: 2 articles (07/2008 - 09/2005)
4.	Jorge, Alexander A L: 2 articles (07/2008 - 09/2005)
5.	Arnhold, Ivo J P: 2 articles (07/2008 - 09/2005)
6.	Gelb, Bruce D: 2 articles (10/2006 - 03/2004)
7.	Tartaglia, Marco: 2 articles (10/2006 - 03/2004)
8.	Ogata, Tsutomu: 2 articles (07/2004 - 08/2002)
9.	Tanaka, Toshiaki: 2 articles (07/2004 - 02/2004)
10.	Hasegawa, Yukihiro: 2 articles (07/2004 - 08/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Noonan Syndrome:

1.	Human Growth Hormone (Saizen)FDA LinkGeneric 02/01/2004 - "The objective of this study was to investigate the effect of administration of recombinant human growth hormone (hGH) in patients with Noonan syndrome" 01/01/2003 - "Unbiased evidence for the efficacy and safety of somatropin therapy in Noonan syndrome will come from appropriately controlled studies of sufficiently large numbers of patients defined on such a basis and followed to final height" 02/01/2004 - "Clinical evaluation of recombinant human growth hormone in Noonan syndrome." 01/01/2003 - "The role of somatropin therapy in children with Noonan syndrome." 09/01/1997 - "We studied the growth-promoting effect of treatment with recombinant human growth hormone in 23 pre-pubertal children with Noonan syndrome, aged between 5.4 and 14.3 y, and all with a height < 1.4 SD for Tanner standards" Order ALL the reference details at left...
2.	Growth Hormone (Somatotropin)IBA 09/01/2005 - "Improved final height with long-term growth hormone treatment in Noonan syndrome." 05/01/1996 - "Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience." 07/01/2008 - "Noonan syndrome: from phenotype to growth hormone therapy]" 03/01/2008 - "Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database." 05/01/2007 - "Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance." Order ALL the reference details at left...
3.	Prednisone (Sone)FDA LinkGeneric 12/01/1992 - "CONCLUSIONS--Prednisone may be useful in the treatment of chylothorax in Noonan syndrome" 12/01/1992 - "OBJECTIVE--To describe a case of spontaneous chylothorax in a child with Noonan syndrome successfully treated with prednisone" Order ALL the reference details at left...
4.	Protein Kinases (Protein Kinase)IBA 08/01/2007 - "Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome." 01/01/2007 - "Increased RAS-mitogen-activated protein kinase (MAPK) signaling due to PTPN11 and KRAS mutations causes 50% of cases of Noonan syndrome" 10/15/2006 - "Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction." 05/01/2007 - "Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in 2 genes that encode molecules of the RAS/MAPK (mitogen activated protein kinase) pathway (PTPN11 and HRAS, respectively)" 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" Order ALL the reference details at left...
5.	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" Order ALL the reference details at left...
6.	Factor XI (Plasma Thromboplastin Antecedent)IBA 02/01/1988 - "Our study suggests a relationship between Noonan syndrome and a partial deficiency of factor XI." 01/01/2003 - "METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%)" 02/01/1988 - "In 1983 Kitchens and Alexander reported on a partial deficiency of coagulation factor XI in four patients with Noonan syndrome" 02/01/1983 - "Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome." Order ALL the reference details at left...
7.	ras ProteinsIBA 11/01/2007 - "We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome" Order ALL the reference details at left...
8.	Protein Tyrosine PhosphatasesIBA 05/01/2007 - "The Noonan syndrome phenotype was confirmed by a clinical geneticist, however analysis of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene showed no mutation" 03/01/2007 - "Mutations of the protein tyrosine phosphatase SHP-2 are implicated in human diseases, causing Noonan syndrome (NS) and related developmental disorders or contributing to leukemogenesis depending on the specific amino acid substitution involved" 11/01/2006 - "Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS" 03/10/2006 - "Like the more common Noonan syndrome (NS), LS is caused by germ line missense mutations in PTPN11, encoding the protein-tyrosine phosphatase Shp2" 02/15/2006 - "Mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP-2, causes Noonan syndrome (NS), an autosomal dominant disorder with pleomorphic developmental abnormalities" Order ALL the reference details at left...
9.	Non-Receptor Type 11 Protein Tyrosine PhosphataseIBA 09/01/2008 - "Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11." 02/01/2008 - "Mutations of the tyrosin phosphatase Shp2 were identified in patients affected by Noonan syndrome characterized by short stature, cardiopathy and increased risk of leukaemia" 04/01/2008 - "Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations" 01/01/2007 - "Gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase SHP2, cause approximately 50% of Noonan syndrome cases" Order ALL the reference details at left...
10.	Tyrosine (L-Tyrosine)FDA Link 10/01/2008 - "PTPN11, encoding SHP-2, is the first identified gene for Noonan syndrome and also the first identified proto-oncogene that encodes a tyrosine phosphatase" 07/01/2006 - "Molecular analysis of the gene encoding the protein tyrosine phospatase, nonreceptor type 11 (PTPN11), identified a single base change at nucleotide 228 in an individual manifesting Noonan syndrome with aortic root widening and dysplastic aortic and mitral valves" 04/01/2008 - "Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations" 01/01/2007 - "Gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase SHP2, cause approximately 50% of Noonan syndrome cases" Order ALL the reference details at left...

Therapies and Procedures

1.	General Anesthesia 01/01/2006 - "We describe the anesthetic management of a one-year-old boy with Noonan syndrome and hypertrophic obstructive cardiomyopathy scheduled for tonsillectomy and adenoidectomy under general anesthesia" 08/01/2007 - "This case report describes anesthetic considerations for a 6-year-old boy, admitted for adenoidectomy under general anesthesia, who had a complicated medical history, including mastocytosis, Noonan syndrome, and von Willebrand disease" Order ALL the reference details at left...
2.	Adenoidectomy 01/01/2006 - "We describe the anesthetic management of a one-year-old boy with Noonan syndrome and hypertrophic obstructive cardiomyopathy scheduled for tonsillectomy and adenoidectomy under general anesthesia" 08/01/2007 - "This case report describes anesthetic considerations for a 6-year-old boy, admitted for adenoidectomy under general anesthesia, who had a complicated medical history, including mastocytosis, Noonan syndrome, and von Willebrand disease" Order ALL the reference details at left...
3.	Fontan Procedure (Fontan Operation) 03/01/1997 - "The mean condition of the patients was: 7 with tetralogy of Fallot after a previous complete correction, 1 with Noonan syndrome and a surgically corrected atrial septal defect, 1 with pulmonary trunk aneurysm and a previous surgical correction for pulmonary valve and branch stenosis, 1 with pulmonary atresia and an intact septum who underwent a surgical valvotomy and posterior percutaneous valvuloplasty with a good ventricular development, and final was a tricuspid atresia with a previous Waterston anastomosis which produced a stenosis at the right pulmonary branch who underwent a modified Fontan operation with the result of a severe stenosis at the medial and inferior right pulmonary artery" Order ALL the reference details at left...
4.	Epidural Analgesia 03/01/2006 - "CLINICAL FEATURES: A 21-yr-old parturient with Noonan syndrome received patient-controlled epidural analgesia for labour at 39 weeks gestation" Order ALL the reference details at left...
5.	Tracheostomy 01/01/2004 - "The goal is to identify dynamic abnormalities such as laryngomalacia or vocal cord paralysis, tracheal or bronchial lesions, gastro-oesophageal reflux disease (GORD), aspiration, laryngotracheal stenosis, totally obstructing tracheostomy-associated granulation tissue and Noonan syndrome preoperatively, and then to plan surgical management to achieve the best possible outcome for each patient." Order ALL the reference details at left...

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