About: RASopathy

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The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:

Attributes	Values
rdf:type	yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalVascularDefects yago:WikicatLymphocyticImmuneSystemDisorders yago:WikicatNeuro-cardio-facial-cutaneousSyndromes yago:WikicatNeurologicalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:Lack114449405 yago:Need114449126 yago:NervousDisorder114084880 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatDeficienciesOfIntracellularSignalingPeptidesAndProteins yago:WikicatEnzymeDefects yago:WikicatSyndromes
rdfs:label	Rasopatía (es) RAS病 (ja) RASopathy (en) RAS-патия (ru)
rdfs:comment	RAS病（ラスびょう、英語: RASopathy ラスオパシー）は、遺伝子中の生殖細胞系列のある変異によって引き起こされる発生学的症候群である。その変異とはシグナル伝達を制御するRasサブファミリー、MAPキナーゼを変化させるものである。RAS病は以下を含む: * * * 心臓・顔・皮膚症候群 * 1型 * 神経線維腫症1型 * ヌーナン症候群 * (ヌーナン症候群様) * (ヌーナン症候群様) * (ヌーナン症候群様) (ja) RAS-патии — группа заболеваний, объединяющих синдромы, развивающиеся при нарушении регуляции проведения внутриклеточного сигнала по RAS/MAPK-пути. Этот сигнальный путь регулирует клеточный цикл, участвует в дифференцировке, росте, старении клетки и обеспечивает механизмы апоптоза. Внешние симптомы этих заболеваний могут проявляться пороками сердца, черепно-лицевыми пороками развития, сопровождаться низким ростом, нейрокогнитивными нарушениями и предрасположенностью к развитию онкологических заболеваний. Встречаемость подобных нарушений составляет около 1 случая на 1000 новорождённых. Развитие этих заболеваний связано с мутациями генов: RIT1, SOS2, RASA2, RRAS и SYNGAP1. Большинство ras-патий передаются по аутосомно-доминатному типу наследования.. (ru) Las rasopatías son un grupo de enfermedades de origen genético que se caracterizan por presentar una mutación que afecta a los genes que codifican las proteínas Ras. Las proteínas de la familia Ras desempeñan un importante papel en la proliferación y diferenciación de las células, así como en la supervivencia y muerte celular. (es) The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including: (en)
dcterms:subject	Valvular heart disease Enzyme defects Gross pathology Genodermatoses Deficiencies of intracellular signaling peptides and proteins Neuro-cardio-facial-cutaneous syndromes Developmental neuroscience Syndromes Congenital vascular defects Autosomal dominant disorders Melanocytic nevi and neoplasms Neurological disorders RASopathies Lymphocytic immune system disorders
Wikipage page ID	33677913 (xsd:integer)
Wikipage revision ID	1077517111 (xsd:integer)
Link from a Wikipage to another Wikipage	Valvular heart disease Enzyme defects Autoimmune lymphoproliferative syndrome Gross pathology Gingival fibromatosis with hypertrichosis Genodermatoses Deficiencies of intracellular signaling peptides and proteins Noonan syndrome Cardiofaciocutaneous syndrome Neuro-cardio-facial-cutaneous syndromes Germline Legius syndrome Ras subfamily Costello syndrome Developmental neuroscience Syndromes Congenital vascular defects Autosomal dominant disorders Melanocytic nevi and neoplasms Neurological disorders Signal transduction Mitogen-activated protein kinase Arteriovenous malformation RASopathies Lymphocytic immune system disorders Neurofibromatosis type 1 LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mosaicism Lentigines
sameAs	RASopathy RASopathy RASopathy RASopathy RASopathy RASopathy RASopathy RASopathy
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