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499 Possible Causes for ARG285TER, RASA1

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  • Capillary Malformation - Arteriovenous Malformation Syndrome

    We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous[ncbi.nlm.nih.gov] AB - Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome.[utah.pure.elsevier.com] Sequence variants and/or copy number variants (deletions/duplications) within the RASA1 gene will be detected with 99% sensitivity.[fulgentgenetics.com]

    Missing: ARG285TER
  • Arteriovenous Malformation

    The somatic RASA1 mutation was detected within endothelial cells specifically and was in trans with the germline RASA1 mutation.[ncbi.nlm.nih.gov] The phenotype, CM-AVM2, mimics RASA1 -related CM-AVM1 and also hereditary hemorrhagic telangiectasia. RASA1 -encoded p120RASGAP is a direct effector of EPHB4.[ncbi.nlm.nih.gov] CM-AVM is caused by mutations in the RASA1 gene.[ghr.nlm.nih.gov]

    Missing: ARG285TER
  • Hereditary Benign Telangiectasia

    […] activator-1), as mosaic mice composed of wild-type and RASA1 null cells show localised vascular defects at E15. 19 The identification of the gene responsible for HBT and[jmg.bmj.com] RASA1 encodes P120RASGAP.[deduveinstitute.be] RASA1 analysis: clinical and molecular findings in a series of consecutive cases. Eur J Med Genet. 2012; 55(2): 91-5.[arupconsult.com]

    Missing: ARG285TER
  • Hereditary Hemorrhagic Telangiectasia

    RASA1 analysis: clinical and molecular findings in a series of consecutive cases. Eur J Med Genet. 2012; 55(2): 91-5.[arupconsult.com] Tests Available Hereditary Hemorrhagic Telangiectasia Panel Custom Hereditary Hemorrhagic Telangiectasia Panel Forms and Documents Test Details Genes: ACVRL1, ENG, GDF2, RASA1[genedx.com] The locations of the candidate genes Smad5 and SPARC (but not RASA1 at 86.6 Mb) are illustrated.[doi.org]

    Missing: ARG285TER
  • Hereditary Hemorrhagic Telangiectasia Type 2

    Genes tested ACVRL1 ENG GDF2 RASA1 SMAD4 Order test Primary panel (5 genes) ACVRL1 ENG GDF2 RASA1 SMAD4 Disorders tested hereditary hemorrhagic telangiectasia ( HHT ) HHT[invitae.com] RASA1 analysis: clinical and molecular findings in a series of consecutive cases. Eur J Med Genet. 2012; 55(2): 91-5.[arupconsult.com] This is an autosomal dominant disorder associated with the RASA1 gene mutation.[clinicaladvisor.com]

    Missing: ARG285TER
  • Hepatic Arteriovenous Malformation

    RASA1 ‐dominant mutations are mostly private, that is, specific to each family.[els.net] RASA1 mutations and hereditary hemorrhagic telangiectasia (HHT) have been associated in some cases of brain AVMs. HHT also increases risk of lung and liver AVMs.[cincinnatichildrens.org] This is an autosomal dominant disorder associated with the RASA1 gene mutation.[clinicaladvisor.com]

    Missing: ARG285TER
  • Progressive Epilepsy-Intellectual Disability Syndrome, Type Finnish

    2002730 RASA1 -Related Disorders ( RASA1 ) Sequencing RASA1 -Related Disorders RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain[aruplab.com] […] syndrome, PTEN-related proteus syndrome, Proteus-like syndrome; (Tumour analysis for research use only) P128-CYP450 Cytochrome P450 P021-SMA Spinal muscular atrophy (SMA) P409-RASA1[mlpa.com] -Related Disorders ( RASA1 ) Sequencing and Deletion/Duplication Additional Technical Information GeneReviews RASA1 -Related Disorders RASA1 FGA, RASA1, CM-AVM, Parkes Weber[aruplab.com]

    Missing: ARG285TER
  • Mucocutaneous Venous Malformations

    These lesions are also formed due to a RASA1 mutation.[cld.bz] CMAVM, characterized by multiple atypical cutaneous capillary stains and increased incidence of arteriovenous malformations, is caused by inactivating mutations in RASA1 [[oncohemakey.com] This is an autosomal dominant disorder associated with the RASA1 gene mutation.[clinicaladvisor.com]

    Missing: ARG285TER
  • Non-immune Hydrops fetalis

    KEYWORDS: CM-AVM; RASA1; RasGAP; arteriovenous malformation; capillary malformation; etiology; pregnancy[ncbi.nlm.nih.gov] Non-immune Hydrops Fetalis. ( 26365158 ) Panigrahy N....Venkatlakshmi A. 2015 7 Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1[malacards.org] Abstract RASA1 mutations have been shown to cause capillary malformation-arteriovenous malformation (CM-AVM).[ncbi.nlm.nih.gov]

    Missing: ARG285TER
  • Ehlers-Danlos Syndrome Type Progeroid

    ABCC9 Del Dup NGS Cantu syndrome NGS panel ABCC9, KCNJ8 Del Dup NGS Cantu syndrome, KCNJ8 related KCNJ8 Sanger Del Dup NGS Capillary malformation arteriovenous malformation RASA1[ctgt.net]

    Missing: ARG285TER

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