| Descriptor English: | Noonan Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Noonan
| ||||||
| Descriptor Portuguese: | Síndrome de Noonan | ||||||
| Descriptor French: | Syndrome de Noonan | ||||||
| Entry term(s): |
Familial Turner Syndrome Female Pseudo Turner Syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Male Turner's Syndrome Noonan Ehmke Syndrome Noonan Syndrome 1 Noonan-Ehmke Syndrome Pseudo Ullrich Turner Syndrome Pseudo-Turner Syndrome, Female Pseudo-Ullrich-Turner Syndrome Turner Like Syndrome Turner Phenotype with Normal Karyotype Turner Syndrome, Familial Turner Syndrome, Male Turner's Phenotype, Karyotype Normal Turner's Syndrome, Male Turner-Like Syndrome Ullrich Noonan Syndrome Ullrich-Noonan Syndrome |
||||||
| Tree 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 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009634 | ||||||
| Scope note: | 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 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. |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Previous Indexing: |
Turner's Syndrome (1966-1978) |
||||||
| Public MeSH Note: | 1979 |
||||||
| History Note: | 1979 |
||||||
| Related: |
Costello Syndrome
MeSH LEOPARD Syndrome MeSH Neurofibromatosis 1 MeSH Turner Syndrome MeSH | ||||||
| DeCS ID: | 9821 | ||||||
| Unique ID: | D009634 | ||||||
| NLM Classification: | QS 675 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1979/01/01 | ||||||
| Date of Entry: | 1977/12/05 | ||||||
| Revision Date: | 2019/07/01 |
|
|
Noonan Syndrome
- Preferred
Female Pseudo-Turner Syndrome
- Narrower
Turner Syndrome, Male
- Narrower
Noonan Syndrome 1
- Narrower
| Concept UI |
M0014957 |
| Scope note | 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 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. |
| Preferred term | Noonan Syndrome |
| Entry term(s) |
Familial Turner Syndrome Noonan Ehmke Syndrome Noonan-Ehmke Syndrome Pseudo Ullrich Turner Syndrome Pseudo-Ullrich-Turner Syndrome Turner Like Syndrome Turner Phenotype with Normal Karyotype Turner Syndrome, Familial Turner's Phenotype, Karyotype Normal Turner-Like Syndrome Ullrich Noonan Syndrome Ullrich-Noonan Syndrome |
| Concept UI |
M0446934 |
| Preferred term | Female Pseudo-Turner Syndrome |
| Entry term(s) |
Female Pseudo Turner Syndrome Pseudo-Turner Syndrome, Female |
| Concept UI |
M0014958 |
| Preferred term | Turner Syndrome, Male |
| Entry term(s) |
Male Turner Syndrome Male Turner's Syndrome Turner's Syndrome, Male |
| Concept UI |
M000649004 |
| Preferred term | Noonan Syndrome 1 |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
