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2,551 Possible Causes for 4,, Noonan, Syndrome, THR266LYS

  • Noonan Syndrome 1

    Genet . 39 (1): 70–4. doi : 10.1038/ng1926 . PMID 17143285 . Razzaque MA, Nishizawa T, Komoike Y, et al. (2007).[en.wikipedia.org] PTPN11 Thr411Met NOONAN PTPN11 Ala461Thr NOONAN PTPN11 Gly464Ala NOONAN PTPN11 Gln510Pro NOONAN PTPN11 Gln510Arg NOONAN PTPN11 Arg138Ter NOONAN PTPN11 Thr2Ile NOONAN SOS1 Thr266Lys[med2000eco.it] Figure 4. Adult with Noonan syndrome.[aafp.org] Workup for Noonan syndrome consists of a patient and family history, physical findings, confirmation of specific abnormalities associated with Noonan syndrome through radiological[symptoma.com]

  • May-Thurner Syndrome

    The dye allows the veins to show up on X-ray, revealing any compressed areas, as well as areas of sluggish blood flow which can indicate the presence of a clot. 4.[veindirectory.org] International The incidence of Noonan syndrome appears to be consistent worldwide.[emedicine.medscape.com] 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] CASES: We performed a retrospective review and description of 4 women with May-Thurner syndrome receiving complete or consultative obstetrical care in our practice.[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • 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] Abstract The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • 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] 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] Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20.[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • Acquired Von Willebrand Syndrome

    RESULTS: Of the 14 patients included in this study, 4 patients were on ventricular-assist devices, 6 patients were on extracorporeal membrane oxygenation, and 4 were patients[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] Previous studies on small cohorts of patients have determined an incidence of between 4 and 8%.[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • Hypertelorism and Tetralogy of Fallot

    [ 4 ], polydactyly of foot [ 5 ].[ojrd.biomedcentral.com] Noonan JA. Noonan syndrome and related disorders. Prog Pediatr Cardiol. 2005b; 20 :177–85. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome.[ncbi.nlm.nih.gov] Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital[books.google.com] PTPN11 Thr411Met NOONAN PTPN11 Ala461Thr NOONAN PTPN11 Gly464Ala NOONAN PTPN11 Gln510Pro NOONAN PTPN11 Gln510Arg NOONAN PTPN11 Arg138Ter NOONAN PTPN11 Thr2Ile NOONAN SOS1 Thr266Lys[med2000eco.it]

  • Usher Syndrome, Type 3

    J Med Genet. 2009 Apr;46(4):272-6.[revistamedicina.net] 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] 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] Types of Usher Syndrome There are three types of Usher syndrome.[ohsu.edu]

    Missing: THR266LYS
  • KID Syndrome

    Clin Genet. 2009 Oct;76(4):404-8. doi: 10.1111/j.1399-0004.2009.01211.x.[ncbi.nlm.nih.gov] Abstract KID syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness.[ncbi.nlm.nih.gov] If you have Noonan syndrome, you may wonder if your future children will have it.[webmd.com] Dalamón VK 1 , Buonfiglio P 2 , Larralde M 3, 4 , Craig P 5 , Lotersztein V 6 , Choate K 7 , Pallares N 8 , Diamante V 8 , Elgoyhen AB 2, 9 .[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • Proteus Syndrome

    Epub 2016 Jul 4.[ncbi.nlm.nih.gov] Proteus syndrome is a rare genetic disorder distinguished by an overgrowth of many different tissues in the body in a mosaic pattern.[symptoma.com] He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen[ggc.org] The second patient was a 10-year-old boy diagnosed with PS at age 4 years.[ncbi.nlm.nih.gov]

    Missing: THR266LYS
  • Hypertelorism

    The complication rate was 4 percent.[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: THR266LYS