 Noonan Syndrome
"Noonan Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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 INTELLECTUAL DISABILITY. 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.
| Descriptor ID |
D009634
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| MeSH Number(s) |
C05.660.207.690 C14.240.400.787 C14.280.400.787 C16.131.240.400.784 C16.131.621.207.690 C17.300.690
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| Concept/Terms |
Noonan Syndrome- Noonan Syndrome
- Syndrome, Noonan
- Turner Phenotype with Normal Karyotype
Female Pseudo-Turner Syndrome- Female Pseudo-Turner Syndrome
- Female Pseudo Turner Syndrome
- Pseudo-Turner Syndrome, Female
- Syndrome, Female Pseudo-Turner
Turner Syndrome, Male- Turner Syndrome, Male
- Syndrome, Male Turner
- Turner's Syndrome, Male
- Male Turner's Syndrome
- Syndrome, Male Turner's
- Turners Syndrome, Male
- Male Turner Syndrome
- Male Turner Syndromes
- Syndromes, Male Turner
- Turner Syndromes, Male
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Below are MeSH descriptors whose meaning is more general than "Noonan Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Noonan Syndrome".
This graph shows the total number of publications written about "Noonan Syndrome" by people in this website by year, and whether "Noonan Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
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| 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Noonan Syndrome" by people in Profiles.
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Couser NL, Keelean-Fuller D, Davenport ML, Haverfield E, Masood MM, Henin M, Aylsworth AS. Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. Am J Med Genet A. 2018 09; 176(9):2024-2027.
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Trivedi KR, Robinson L, Fraisse A. Treatment of severe refractory valvar pulmonary stenosis with primary transcatheter pulmonary valve implantation. Cardiol Young. 2017 Aug; 27(6):1232-1234.
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Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
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Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63.
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Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A. 2013 Oct; 161A(10):2420-30.
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Gulati GS, Gupta A, Juneja R, Saxena A. Ectatic coronary arteries in Noonan syndrome. Tex Heart Inst J. 2011; 38(3):318-9.
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Graham GE, Silver K, Arlet V, Der Kaloustian VM. King syndrome: further clinical variability and review of the literature. Am J Med Genet. 1998 Jul 07; 78(3):254-9.
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Carter JE, Feldman T, Carroll JD. Sustained reversal of right-to-left atrial septal defect flow after pulmonic valvuloplasty in an adult. Eur Heart J. 1994 Apr; 15(4):575-6.
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Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 1990 Dec 21; 63(6):1205-18.
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