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*  Congenital heart defect
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ... Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has ...
*  Cherubism
... has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and Fragile X ... syndrome. Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases. The mutation of the SH3BP2 gene is believed ...
*  Noonan syndrome with multiple lentigines
... is caused by a different missense mutation of the same gene. Noonan syndrome is fairly ... LEOPARD Syndrome at eMedicine "LEOPARD Syndrome". NORD - National Organization for Rare Disorders. "Noonan syndrome with ... Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal ... 1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". J Postgrad Med. 46 (2): 98-100. ...
*  Cardiofaciocutaneous syndrome
Costello syndrome is caused by mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1. The ... Cardiofaciocutaneous Syndrome (CFC syndrome) is an extremely rare and serious genetic disorder. It is characterized by the ... CFC International - Support group for CFC families CFC Syndrome at Genetics Home Reference CFC Syndrome at WebMD GeneReview/UW/ ... Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the ...
*  Juvenile myelomonocytic leukemia
Children with JMML and Noonan's syndrome may also exhibit any of the following most-common symptoms associated with Noonan's ... Bastida P; García-Miñaúr S; Ezquieta B; Dapena J. L.; De Toledo Sanchez (2011). "Myeloproliferative disorder in Noonan syndrome ... or thinning of the shin bone Noonan syndrome (NS) may predispose to the development of JMML or a myeloproliferative disorder ( ... Tiu R. V.; Sekeres M. A. (2014). "Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes". Current ...
*  Pulmonary valve stenosis
PVS was the key finding that led Jacqueline Noonan to identify the syndrome now called Noonan syndrome. Play media Among some ... Noonan's syndrome, and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur ...
*  Noonan syndrome
Noonan's syndrome. (Male Turner syndrome, Turner-like syndrome)]". Med Pregl. 31 (7-8): 299-303. PMID 692497. "Noonan syndrome ... Costello syndrome Legius syndrome Noonan Syndrome with Multiple Lentigines, as known as LEOPARD syndrome, a related disorder ... Noonan, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had ... It is referred to as the male version of Turner's syndrome; however, the genetic causes of Noonan syndrome and Turner syndrome ...
*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Noonan Syndrome
Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. ... Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities ... many characteristics of which overlap those of the Turner syndrome. ... A cardiofacial syndrome with a variable phenotype, which may change with age, ...
*  BRAF (gene)
Allanson, Judith E; Roberts, Amy E (2011-08-04). Noonan Syndrome. NBK1124. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993 ... Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G (November 2006). "The cardiofaciocutaneous ... In GeneReviews Gelb, Bruce D; Tartaglia, Marco (2010-11-16). LEOPARD Syndrome. NBK1383. In GeneReviews "BRAF gene". NCI ... Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental ...
*  KRAS
Several germline KRAS mutations have been found to be associated with Noonan syndrome and cardio-facio-cutaneous syndrome. ... Controls GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome GeneReviews/NCBI/NIH/UW entry on Noonan syndrome KRAS2 ... "Germline KRAS mutations cause Noonan syndrome". Nature Genetics. 38 (3): 331-6. doi:10.1038/ng1748. PMID 16474405. Niihori T, ... "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome". Nature Genetics. 38 (3): 294-6. doi:10.1038/ng1749. PMID ...
*  Webbed neck
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or ... Qian JG, Wang XJ (2007). ", Noonan syndrome and correction of the webbed neck". Journal of Plastic, Reconstructive, and ... Miller LB, Kanter M, Wolfort F (1990). "Treatment of webbed neck in Turner's syndrome with tissue expansion". Ann Plast Surg. ... "Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome". Cleft Palate Craniofac. J. 39 (3 ...
*  Palinopsia
"Palinopsia with bacterial brain abscess and Noonan syndrome". Alaska medicine. 41 (1): 3-7. PMID 10224677. Hayashi, R; Shimizu ... Ossola, M; Romani, A; Tavazzi, E; Pichiecchio, A; Galimberti, CA (May 2010). "Epileptic mechanisms in Charles Bonnet syndrome ... Alice in Wonderland syndrome (micropsia, macropsia, teleopsia, and pelopsia), visual snow, oscillopsia, entoptic phenomena, and ...
*  Neuroblastoma RAS viral oncogene homolog
GeneReviews/NCBI/NIH/UW entry on Noonan syndrome. ... at codon 13 of the N-ras oncogene in myelodysplastic syndrome ...
*  Growth hormone
Binder G, Wittekindt N, Ranke MB (February 2007). "Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy". ... Examples of other causes of shortness often treated with GH are Turner syndrome, chronic renal failure, Prader-Willi syndrome, ... GH has also been used experimentally in patients with short bowel syndrome to lessen the requirement for intravenous total ... More rarely, patients can experience joint swelling, joint pain, carpal tunnel syndrome, and an increased risk of diabetes. In ...
*  SOS1
Recent studies also show that mutations in Sos1 can cause Noonan syndrome and hereditary gingival fibromatosis type 1. Noonan ... GeneReviews/NCBI/NIH/UW entry on Noonan syndrome http://www.noonansyndrome.org http://ghr.nlm.nih.gov/gene=sos1 This article ... cause Noonan syndrome". Nat. Genet. 29 (4): 465-8. doi:10.1038/ng772. PMID 11704759. Scita G, Nordstrom J, Carbone R, Tenca P, ... "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nat. Genet. 39 (1): 70-4. doi:10.1038/ng1926. PMID 17143285 ...
*  Protein tyrosine phosphatase
LEOPARD syndrome, Noonan syndrome, and Metachondromatosis are associated with PTPN11. Elevated levels of activated PTPN5 ... "Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model". Genes, Brain, and Behavior ... negatively affects synaptic stability and plays a role in Alzheimer's disease, Fragile X Syndrome schizophrenia, and ...
*  MRAS
"Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70-4. doi:10.1038/ng1926. PMID ...
*  Son of Sevenless
Noonan syndrome mutations in SOS1 are distributed in clusters positioned throughout the SOS1 coding region. Biochemically, ... Dominant mutant alleles of SOS1 have recently been found to cause Noonan syndrome and hereditary gingival fibromatosis type 1. ... The mutations that cause Noonan syndrome thus appear to perturb intramolecular interactions necessary for SOS1 auto-inhibition ... Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes. A common feature of these genes is that ...
*  PAG1
2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nat. Genet. 39 (1): 70-4. doi:10.1038/ng1926. PMID ...
*  Jacqueline Noonan
Charity Nebbe (27 February 2014). "Noonan Syndrome with guest Dr Jaqueline Noonan". Iowa Public Radio, Talk of Iowa. Retrieved ... the condition was officially named Noonan syndrome in 1971. Dr. Noonan moved on to the fledgling University of Kentucky medical ... She was also the original describer of hypoplastic left heart syndrome. Noonan was born October 28, 1928 in Burlington, Vermont ... Jacqueline Anne Noonan is a pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan ...
*  Cystic hygroma
Additionally, it can be associated with Turner syndrome or with Noonan syndrome. A lethal version of this condition is known as ... Cystic hygromas are also often seen in Turner's syndrome, although a patient who does not have Turner's syndrome can present ... March 2008). "Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals". Fetal. Diagn. Ther ... syndrome%22&source=bl&ots=bEeJU7SsDU&sig=EzUmEHwBeRmM-atleoQxSc0fxuw&hl=en&ei=TR4zSr2iApPusQOOqdHYDg&sa=X&oi=book_result&ct= ...
*  RIT1
Mutations in RIT1 are associated to Noonan syndrome . RIT1 has been shown to interact with KLHL12 and Merlin. GRCh38: Ensembl ... "Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity". ...
*  PTPN7
... cause Noonan syndrome". Nat. Genet. 29 (4): 465-8. doi:10.1038/ng772. PMID 11704759. Wang ZX, Zhou B, Wang QM, Zhang ZY (2002 ... "Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene". Am. J. Hum. Genet. 71 (2): 389-94. doi: ... mutations in seven Japanese patients with Noonan syndrome". J. Clin. Endocrinol. Metab. 87 (8): 3529-33. doi:10.1210/jc.87.8. ...
*  PTPN11
Missense mutations in the PTPN11 locus are associated with both Noonan syndrome and Leopard syndrome. It has also been ... Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. This phosphatase, along with its ... In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to ... Patients with a subset of Noonan syndrome PTPN11 mutations also have a higher prevalence of juvenile myelomonocytic leukemias ( ...
*  SHOC2
Mutations that result in lipidation (specifically Myristoylation) of SHOC2 can cause Noonan syndrome. SHOC2 has been shown to ... "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair". Nature ...
*  Ariosa v. Sequenom
Noonan closes with a blast at the Federal Circuit for a lack of courage or will to use available "analytical and doctrinal ... which would in turn allow them to diagnose certain fetal genetic conditions such as Down Syndrome, which can be detected by ... Noonan's point about considering the whole apparently focuses on the fact that the named inventors were the first to discover ... Noonan concedes that the type of analysis described in Flook "may make sense in claims to" electromechanical inventions such as ...
*  Factor XI
Low levels of factor XI also occur in many other disease states, including Noonan syndrome. High levels of factor XI have been ...