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2,551 Possible Causes for 5,, Noonan, Syndrome, THR491ARG

  • 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: THR491ARG
  • 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] Arch Dermatol Res. 2015 Dec;307(10):891-5. doi: 10.1007/s00403-015-1597-4. Epub 2015 Sep 16.[ncbi.nlm.nih.gov]

    Missing: THR491ARG
  • 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] 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] 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: THR491ARG
  • 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] 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] 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]

    Missing: THR491ARG
  • Acquired Von Willebrand Syndrome

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

    Missing: THR491ARG
  • 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: THR491ARG
  • 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] 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] Exp Eye Res. 2001 May;72(5):503-9. 44. McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.[revistamedicina.net]

    Missing: THR491ARG
  • KID Syndrome

    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] If you have Noonan syndrome, you may wonder if your future children will have it.[webmd.com] Abstract KID syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness.[ncbi.nlm.nih.gov] METHODS: Clinical observation of a 5-year-old boy (Patient 1) and a 64-year-old man (Patient 2) with KID syndrome, presenting prominent corneal diseases.[ncbi.nlm.nih.gov]

    Missing: THR491ARG
  • King Syndrome

    As you’re enjoying the Stephen King Father’s Day marathon on IFC, consider yourself lucky that you weren’t raised by these exceptionally scary dads. 5.[ifc.com] King syndrome, also known as King-Denborough syndrome, is a congenital disease that consists of myopathy, malignant hyperthermia, dysmorphic facial features and musculoskeletal[symptoma.com] Two unrelated children diagnosed elsewhere as having Noonan syndrome and congenital arthrogryposis appeared to have King syndrome; both had Noonan facies, webbed neck, average[nature.com] Y1 - 2009/5 KW - medically unexplained hearing difficulties KW - King-Kopetzky syndrome KW - coping M3 - Doctoral Thesis ER -[researchportal.bath.ac.uk]

    Missing: THR491ARG
  • Lymphedema

    The cumulative incidence of BCRL diagnosis within 5 years was 9.1% [95% confidence interval (CI) 7.8-10.5%].[ncbi.nlm.nih.gov] We describe a 14-year-old girl affected with Hennekam syndrome.[ncbi.nlm.nih.gov] Lymphatic malformations Hemangiomas Arteriovenous malformations Venous malformations Klippel-Trénauny syndrome Parkes-Weber syndrome Amniotic band syndrome Turner syndrome Noonan[seattlechildrens.org] Other genetic syndromes and cutaneous conditions associated with primary lymphedema include the following: Turner syndrome Noonan syndrome Klinefelter syndrome Neurofibromatosis[emedicine.medscape.com]

    Missing: THR491ARG