"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
- Noonan Syndrome 1
- Noonan-Ehmke Syndrome
- Noonan Ehmke Syndrome
- Syndrome, Noonan-Ehmke
- Pseudo-Ullrich-Turner Syndrome
- Pseudo Ullrich Turner Syndrome
- Syndrome, Pseudo-Ullrich-Turner
- Turner's Phenotype, Karyotype Normal
- Turner-Like Syndrome
- Syndrome, Turner-Like
- Turner Like Syndrome
- Ullrich-Noonan Syndrome
- Syndrome, Ullrich-Noonan
- Ullrich Noonan Syndrome
- Familial Turner Syndrome
- Syndrome, Familial Turner
- Turner Syndrome, Familial
- 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
- Male Turner Syndrome
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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.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 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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PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax. Nagoya J Med Sci. 2022 Nov; 84(4):871-876.
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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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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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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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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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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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Ectatic coronary arteries in Noonan syndrome. Tex Heart Inst J. 2011; 38(3):318-9.
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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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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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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.