Noonan Syndrome [Noonanové syndrom]
- Terms
-
mužský Turnerův syndrom
Noonanové syndrom 1
Noonanův syndrom
pseudo-Turnerův syndrom
pseudo-Turnerův syndrom u žen
syndrom Noonanové
syndrom Noonanové 1
Turnerův syndrom u mužů
ženský pseudo-Turnerův syndrom
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Familial Turner Syndrome
Female Pseudo-Turner Syndrome
Male Turner Syndrome
Noonan Syndrome 1
Noonan-Ehmke Syndrome
Pseudo-Ullrich-Turner Syndrome
Turner Phenotype with Normal Karyotype
Turner Syndrome, Male
Turner-Like Syndrome
Turner's Phenotype, Karyotype Normal
Turner's Syndrome, Male
Ullrich-Noonan Syndrome
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.
- DUI
- D009634 MeSH Browser
- CUI
- M0014957
- Previous indexing
- Turner's Syndrome (1966-1978)
- History note
- 1979
- Public note
- 1979
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 8
- DI
- diagnosis 28
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 4
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology 2
- EH
- ethnology
- ET
- etiology 3
- GE
- genetics 22
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 10
- PP
- physiopathology 5
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 9
- UR
- urine
- VE
- veterinary
- VI
- virology
Kousseff Nichols syndrome Disease MeSH Browser
Neurofibromatosis-Noonan syndrome Disease MeSH Browser
Noonan Syndrome 2 Disease MeSH Browser
Noonan Syndrome 4 Disease MeSH Browser
Noonan Syndrome 5 Disease MeSH Browser
Noonan Syndrome 6 Disease MeSH Browser
Noonan like syndrome Disease MeSH Browser
Noonan syndrome 3 Disease MeSH Browser
Noonan-Like Syndrome With Loose Anagen Hair Disease MeSH Browser