Search on: NOONAN SYNDROME 
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Descriptor English:   Noonan Syndrome 
Descriptor Spanish:   Síndrome de Noonan 
Descriptor Portuguese:   Síndrome de Noonan 
Synonyms English:   Familial Turner Syndrome
Female Pseudo-Turner Syndrome
Noonan Syndrome 1
Noonan-Ehmke Syndrome
Pseudo-Ullrich-Turner Syndrome
Turner Phenotype with Normal Karyotype
Turner's Phenotype, Karyotype Normal
Turner's Syndrome, Male
Turner-Like Syndrome
Ullrich-Noonan Syndrome
Female Pseudo Turner Syndrome
Male Turner's Syndrome
Noonan Ehmke Syndrome
Pseudo Ullrich Turner Syndrome
Pseudo-Turner Syndrome, Female
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 Syndrome, Familial
Ullrich Noonan Syndrome
Turner Syndrome, Male
Male Turner Syndrome  
Tree Number:   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
Definition English:   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. 
See Related English:   Costello Syndrome
LEOPARD Syndrome
Neurofibromatosis 1
Turner Syndrome
 
History Note English:   1979 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   9821 
Unique Identifier:   D009634 

Occurrence in VHL:
 
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