Disease #00383

Official abbreviation NS
Name syndrome, Noonan (NS)
OMIM ID -
Individuals reported having this disease 221
Phenotype entries for this disease 219
Associated with 9 genes BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SOS1, SOS2
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

221 entries on 3 pages. Showing entries 1 - 100.
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00016593 patient PubMed: Döcker 2015, Journal: Döcker 2015 - M yes Turkey Turkish - 0 - - MCAP, NS features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing AKT3, PIK3CA, PIK3R2 PIK3CA, PTPN11 2 1 Dennis Döcker
00018533 - PubMed: Kraft M et al. - M ? ? (unknown) ? - 0 - - NS Noonan syndrome–like phenotype; microcephaly; ADHD, IQ 75-80; Normal MRI; Blepharophimosis; Ptosis ; High arched eyebrows ; Low-set ears with overfolded helix and fleshy lobe, ; Smooth philtrum; Retrognathia; High arched palate; Short stature; Retarded bone age; Ligamentous laxity; KAT6B KAT6B 1 1 Philippe Campeau
00079904 - PubMed: Carapito 2014 - F no (France) - - 0 - - NS high anterior, depressed nasal bridge, hypertelorism, down-slanting palpebral fissures, low-set and posteriorly angulated ears with thick helices; multiple giant cell lesions; pigmented villonodular synovitis lesions PTPN11 PTPN11 1 1 Jelena Čalyševa
00079905 - PubMed: Chen 2009 fetus - - - - - 0 - - NS fetal chylothorax PTPN11 PTPN11 1 1 Jelena Čalyševa
00079906 - PubMed: Atik 2016 - F - (Turkey) - - 0 - - NS Symptoms: hypertrophic cardiomyopathy, thorax deformity, mild developmental delay PTPN11 PTPN11 1 1 Jelena Čalyševa
00079907 - PubMed: Ko 2008 - - - Korea - - 0 - - NS - PTPN11 PTPN11 1 1 Jelena Čalyševa
00080195 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080196 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080197 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080198 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080199 - PubMed: Sarkozy, A (2003) atrioventricular septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080200 - PubMed: Sarkozy, A (2003) hypertrophic cardiomyopathy - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080201 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080210 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080211 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080212 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080213 - PubMed: Schollen, E (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080214 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080215 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080216 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080217 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080218 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080219 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080220 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080222 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080223 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080224 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080225 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080226 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080227 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080228 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080229 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080230 - PubMed: Sarkozy, A (2003) Symptoms: atrioventricular septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080231 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080232 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis (familial) - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080233 - PubMed: Sarkozy, A (2003) Symptoms: atrial septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080234 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080235 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080236 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080237 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080238 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080239 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080246 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080247 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080254 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080255 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080264 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis; atrial septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080265 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080267 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080268 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080269 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080270 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080271 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - JMML;CMML, NS Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080272 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080273 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080274 - PubMed: Becker, K (2007) Relative in Description of pedigree:A0234: daughter M ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080277 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080278 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080280 - PubMed: Becker, K (2007) Relative in Description of pedigree:A0233: father; The patient was a fetus, demised at the age of 12 weeks. The DNA analysis from autopsy fetal muscle confirmed compound heterozygosity for the parental Y63C and N308S mutations. F ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080281 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - MDS, NS Diagnosis: Noonan syndrome - MPD PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080282 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080285 - PubMed: Sarkozy, A (2003) Symptoms: hypertrophic cardiomyopathy; mitral valve anomaly - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080287 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080288 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080299 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080355 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080356 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML, NS Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080370 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - MPD, NS Diagnosis: Noonan syndrome / MPD PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080373 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080374 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080375 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - MPD, NS Diagnosis: Noonan syndrome / MPD PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080382 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080384 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080386 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080387 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080388 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080389 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080390 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - MPD, NS Diagnosis: Noonan syndrome / MPD PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080391 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - MPD, NS Diagnosis: Noonan syndrome / MPD PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080395 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080396 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080397 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080398 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080400 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080407 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080408 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080413 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080414 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080424 - PubMed: Roti, G (2006) - - ? - - - 0 - - NS - PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080425 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080426 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS - PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080435 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080439 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00080442 - PubMed: Kaarow (2007) - ? ? - - - 0 - - NS - PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00081011 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - NS Noonan syndrome 1 (OMIM:163950) PTPN11 PTPN11 1 1 Daniel Trujillano
00103258 - PubMed: Siegfried 2017 - M ? (France) - - 0 - - NS Several dysmorphic facial features, short stature, pubertal development delay, moderate language deficit, cryptorchidism, cardiac defect. Dysembryoplastic neuroepithelial tumor (DNT) PTPN11 PTPN11 1 1 Gerard C.P. Schaafsma
00164832 - - - F no Argentina - >17y 0 - - NS - RAF1 RAF1 1 1 Josefina Chinton
00206141 - - # of cases: 1, fam unknown - - - - - 0 - - NS - SOS1 SOS1 1 1 -
00206142 - - unaffected carrier mother - - - - - 0 - - NS - SOS1 SOS1 1 2 -
00206143 - - - - - - - - 0 - - NS - SOS1 SOS1 1 1 -
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