Počet záznamov: 1
Noonanovej syndróm
Č. záznamu d009634 Dátum 06.06.2025 Typ M Tematický termín Noonanovej syndróm Iný termín Angličtina (Pseudonym) Male Turner Syndrome
Angličtina (Pseudonym) Turner Syndrome, Male
Slovenčina (Pseudonym) Turnerov syndróm mužský
Slovenčina (Pseudonym) Turnerov syndróm u mužov
Pozri tiež (Novšie záhlavie) neurofibromatóza 1
(Skutočné meno) neurofibromatóza 1
(Skutočné meno) Turnerov syndróm
(Skutočné meno) LEOPARD-syndróm
(Skutočné meno) Costellov syndróm
(Novšie záhlavie) Turnerov syndróm
(Novšie záhlavie) LEOPARD-syndróm
(Novšie záhlavie) Costellov syndróm
MDT C05.660.207.690C14.240.400.787C14.280.400.787C16.131.240.400.784C16.131.621.207.690C17.300.690 Poznámka 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. 
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Počet záznamov: 1