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2,551 Possible Causes for 5,, Noonan, SER257LEU, Syndrome

  • LEOPARD Syndrome

    Arch Dermatol Res. 2015 Dec;307(10):891-5. doi: 10.1007/s00403-015-1597-4. Epub 2015 Sep 16.[ncbi.nlm.nih.gov] Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.[ncbi.nlm.nih.gov] We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A C-p.Gln506Pro in the PTPN11 gene.[ncbi.nlm.nih.gov] In our 10-year-old patient, who was negative in the PTPN11 gene analysis but involving the RAF1 gene in a complementary analysis, the sequence variant Ser257Leu (770C T, exon[ncbi.nlm.nih.gov]

  • LEOPARD Syndrome

    Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome) is a topic covered in the 5-Minute Clinical Consult .[unboundmedicine.com] INTRODUCTION AND OBJECTIVES: LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently.[ncbi.nlm.nih.gov] Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene.[en.wikipedia.org] In our 10-year-old patient, who was negative in the PTPN11 gene analysis but involving the RAF1 gene in a complementary analysis, the sequence variant Ser257Leu (770C T, exon[ncbi.nlm.nih.gov]

  • Noonan Syndrome 1

    EDTA tube (lavender top) in case paternal confirmation studies are necessary Postnatal For adults Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with[sema4genomics.com] Noonan syndrome Synonyms Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome [1] A 12-year-old girl with Noonan syndrome.[en.wikipedia.org] Arg552Ser NOONAN SOS1 Trp432Arg NOONAN KRAS Thr58Ile NOONAN KRAS Val14Ile NOONAN KRAS Val152Gly NOONAN KRAS Asp153Val NOONAN KRAS Lys5Glu NOONAN KRAS Gly60Ser NOONAN RAF1 Ser257Leu[med2000eco.it] January Patient of the Month: Layla When Layla was 5, she came to Nicklaus Children's Hospital with a severe case of scoliosis.[nicklauschildrens.org]

  • Costello Syndrome

    At 22(5/7) weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins.[ncbi.nlm.nih.gov] Abstract Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation[ncbi.nlm.nih.gov] As Costello and Noonan syndromes overlap, a PTPN11 analysis was done, with presence of a mutation (T854C).[ncbi.nlm.nih.gov] Bildene er gjengitt med tillatelse fra foreldrene. c) Den heterozygote mutasjonen c.770C T som fører til aminosyreendringen Ser257Leu i RAF1-proteinet.[tidsskriftet.no]

  • Noonan Syndrome with Multiple Lentigines

    Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome) is a topic covered in the 5-Minute Clinical Consult .[unboundmedicine.com] KEYWORDS: Cochlear implantation; Noonan syndrome; Noonan syndrome with multiple lentigines; PTPN11[ncbi.nlm.nih.gov] The two LS subjects carrying the Leu613Val and Ser257Leu changes disclosed a full blown LS phenotype, with multiple lentigines, CLS, HCM and delayed puberty.[flipper.diff.org] RAF1 pathologic allelic variants causing LS are Ser257Leu and Leu613Val.[karger.com]

  • May-Thurner Syndrome

    J Pediatr Urol. 2013 Feb;9(1):e72-5. doi: 10.1016/j.jpurol.2012.08.014. Epub 2012 Sep 24.[ncbi.nlm.nih.gov] We describe a case of a young female who presented with extensive left leg DVT and was found to have May-Thurner syndrome based on the anatomy of her vessels.[ncbi.nlm.nih.gov] International The incidence of Noonan syndrome appears to be consistent worldwide.[emedicine.medscape.com] Chest. 2006 May;129(5):1382-6. Author information 1 Department of Pulmonary Medicine, National Naval Medical Center, 8901 Wisconsin Ave, Bethesda, MD 20889, USA.[ncbi.nlm.nih.gov]

    Missing: SER257LEU
  • Neurofibromatosis-Noonan Syndrome

    Department of Neurology, School of Medicine, University of Athens, Eginition Hospital, Athens, Greece. [email protected] 4 "Cephalogenetics" Genetic Center, Athens, Greece. 5[ncbi.nlm.nih.gov] As a result, the correct nosology of this syndrome is uncertain.[ncbi.nlm.nih.gov] Abstract Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1.[ncbi.nlm.nih.gov] The two LS subjects carrying the Leu613Val and Ser257Leu changes disclosed a full blown LS phenotype, with multiple lentigines, CLS, HCM and delayed puberty [ 37 ].[ojrd.biomedcentral.com]

  • Acquired Von Willebrand Syndrome

    RESULTS: Concomitant avWS was found in 5 patients (15.6%).[ncbi.nlm.nih.gov] Pathogenesis of von Willebrand syndrome is complex and not fully understood.[ncbi.nlm.nih.gov] INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facies, short stature and congenital heart defects.[ncbi.nlm.nih.gov] All 5 patients underwent surgical septal myectomy with resolution of acquired von Willebrand syndrome.[ncbi.nlm.nih.gov]

    Missing: SER257LEU
  • Hypertelorism

    The mean follow-up was 9 months (range: 5-16 months).[ncbi.nlm.nih.gov] A total of seven cases of HMC syndrome in five families have been hitherto reported.[ncbi.nlm.nih.gov] Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.[ncbi.nlm.nih.gov] Hypertelorism can also be seen in Apert syndrome, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf-Hirschhorn syndrome[facecorrection.com]

    Missing: SER257LEU
  • Usher Syndrome, Type 3

    Sci. 58 (1):394-403 (PMID: 28118664) Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921) Lee et al. (2015) Am. J.[genedx.com] Synonyms: Graefe-Sjögren syndrome, Graefe-Usher syndrome and von Graefe's syndrome The syndrome is a genetic defect causing retinitis pigmentosa and congenital deafness .[patient.info] 06/07/2018 A2ML1 Costello syndrome MONDO:0009026 SOP5 No Reported Evidence 06/07/2018 A2ML1 Noonan syndrome MONDO:0018997 SOP5 Disputed 06/07/2018 A2ML1 Noonan syndrome-like[clinicalgenome.org] Exp Eye Res. 2001 May;72(5):503-9. 44. McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.[revistamedicina.net]

    Missing: SER257LEU