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Disease Noonan Syndrome

Name Noonan Syndrome
Synonyms Familial Turner Syndrome | Female Pseudo Turner Syndrome | Female Pseudo-Turner Syndrome | Male Turner's Syndrome | Male Turner Syndrome | Noonan Ehmke Syndrome | Noonan-Ehmke Syndrome | NOONAN SYNDROME | Noonan Syndrome 1 | NS1 | Pseudo-Turner Syndrome, Female | Pseudo Ullrich Turner Syndrome | Pseudo-Ullrich-Turner Syndrome | Syndrome, Familial Turner | Syndrome, Female Pseudo-Turner | Syndrome, Male Turner | Syndrome, Male Turner's | Syndrome, Noonan | Syndrome, Noonan-Ehmke | Syndrome, Pseudo-Ullrich-Turner | Syndrome, Turner-Like | Syndrome, Ullrich-Noonan | Turner Like Syndrome | Turner-Like Syndrome | Turner Phenotype with Normal Karyotype | TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED | Turner's Phenotype, Karyotype Normal | Turner's Syndrome, Male | Turner Syndrome, Familial | Turner Syndrome, Male | Ullrich Noonan Syndrome | Ullrich-Noonan Syndrome
Definition 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.
Categories Cardiovascular disease | Congenital abnormality | Connective tissue disease | Musculoskeletal disease
MeSH® ID D009634
OMIM® ID 163950
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes
3. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes
6. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Noonan Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Noonan Syndrome Has associated chemicals Has associated genes
  Kousseff Nichols syndrome
  Neurofibromatosis-Noonan syndrome Has associated chemicals Has associated genes
View node Noonan like syndrome Has associated chemicals Has associated genes
  Noonan-Like Syndrome With Loose Anagen Hair
  Noonan Syndrome 2
  Noonan syndrome 3 Has associated chemicals Has associated genes
  Noonan Syndrome 4 Has associated chemicals Has associated genes
  Noonan Syndrome 5 Has associated chemicals Has associated genes
  Noonan Syndrome 6 Has associated chemicals Has associated genes
  NOONAN SYNDROME 7 Has associated chemicals Has associated genes