Pesquisa sobre: NOONAN SYNDROME 
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Descritor Inglês:   Noonan Syndrome 
Descritor Espanhol:   Síndrome de Noonan 
Descritor Português:   Síndrome de Noonan 
Sinônimos Inglês:   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
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 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  
Categoria:   C05.660.207.690
Definição Inglês:   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. 
Relacionados Inglês:   Costello Syndrome
LEOPARD Syndrome
Neurofibromatosis 1
Turner Syndrome
Nota Histórica Inglês:   1979 
Qualificadores Permitidos Inglês:  
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
Número do Registro:   9821 
Identificador Único:   D009634 

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