About: Bannayan–Riley–Ruvalcaba syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Bannayan–Riley–Ruvalcaba syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.org associated with source document(s)

Type:

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FBannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatSoftTissueDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cancer114239918 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Growth114234074 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Lack114449405 yago:Malignancy114237561 yago:MalignantTumor114239425 yago:Need114449126 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders yago:WikicatHereditaryCancers disease yago:State100024720 yago:Syndrome105870790 yago:Tumor114235200 yago:Whole105869584 yago:WikicatDeficienciesOfIntracellularSignalingPeptidesAndProteins yago:WikicatSyndromes
rdfs:label	Bannayan–Riley–Ruvalcaba syndrome (en) متلازمة بانيان- رايلي- روفالكابا (ar) Síndrome de Bannayan–Riley–Ruvalcaba (ca) Ruvalcaba-Myhre-Smith-Syndrom (de) Sindrome di Bannayan-Riley-Ruvalcaba (it) Syndrome de Bannayan-Riley-Ruvalcaba (fr) Zespół Bannayana-Rileya-Ruvalcaby (pl)
rdfs:comment	La síndrome de Bannayan-Riley-Ruvalcaba (BRRS) és una síndrome de sobrecreuament rar i un trastorn hamartomatós amb aparició de múltiples lipomes subcutanis, macrocefàlia i hemangiomes. La malaltia s'hereta d'una manera autosòmica dominant. La malaltia pertany a una família de síndromes hamartomoses, que inclou també la , la poliposi juvenil i la síndrome de Cowden. La mutació del gen PTEN es basa en aquesta síndrome, així com el síndrome de Cowden, el síndrome de Proteus i la síndrome similar a Proteus, aquests quatre síndromes es coneixen com a síndromes de tumor Hamartoma-PTEN. (ca) متلازمة بانيان- رايلي- روفالكابا، هي متلازمة فرط نمو نادرة ومرض مسبب للأورام العيبية. تتضمن المتلازمة تشكل أورام شحمية متعددة تحت الجلد وضخامة رأس وأورام وعائية دموية. ينتقل المرض للأبناء بطريقة وراثية سائدة. ينتمي هذا المرض إلى عائلة متلازمات السلائل الورمية العابية التي تشمل أيضًا ما يلي: متلازمة بوتز- جيغرز ومتلازمة السلائل الشبابية ومتلازمة كاودن. تنجم هذه المتلازمة عن تحور في جين مشابه الفوسفاتاز والتنسين (جين بي تي إي إن). يتسبب التحور في هذا الجين بأمراض ومتلازمات أخرى مثل: متلازمة كاودن ومتلازمة بروتيوس والمتلازمة الشبيهة بمتلازمة بروتيوس. يُشار إلى هذه المتلازمات الأربعة باسم متلازمات مشابه الفوسفاتاز والتنسين الورمية العابية. (ar) Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes. (en) La sindrome di Bannayan-Riley-Ruvalcaba (BRRS) è una malattia genetica rara caratterizzata da ipertrofia dei tessuti e da una proliferazione di amartomi, con formazione di numerosi lipomi sottocutanei, emangiomi e macrocefalia. (it) Das Ruvalcaba-Myhre-Smith-Syndrom ist eine sehr seltene, zu den Großwuchssyndromen gehörende Erbkrankheit. Bei erkrankten Personen liegt eine Mutation im PTEN-Gen auf dem langen Arm von Chromosom 10 vor und gehört daher zum PTEN-Hamartoma-Tumor-Syndrom. PTEN steht für „Phosphatase and Tensin Homolog“. Es ist ein Tumorsuppressor-Gen und das Protein besteht aus 403 Aminosäuren. Das Gen codiert eine Lipid-Phosphatase, die die Funktion anderer Proteine regelt, indem sie Phosphat-Gruppen von ihren Molekülen entfernt. Das Wachstum überflüssiger Zellen wird unterdrückt, indem der Zellzyklus in der G1-Phase unterbrochen wird. Eine Mutation, die den Verlust des Proteins verursacht, kann auf Überproliferation (Überzellteilung) hinauslaufen, die zum Wachstum von Gewebsveränderungen beziehungsweise Ge (de) Le syndrome de Bannayan-Riley-Ruvalcaba associe une macrocéphalie, des hamartomes intestinaux, des lipomes et des macules pigmentées du gland du pénis. Les autres manifestations sont une macrosomie à la naissance, un retard de développement et un retard mental dans 50 % des cas, des troubles musculaires atteignant les muscles des ceintures, des articulations hyper extensibles, un pectus excavatum et une scoliose. (fr) Zespół Bannayana-Rileya-Ruvalcaby (zespół Bannayana-Zonany, zespół Rileya-Smitha, zespół Ruvalcaby-Myhrego-Smitha, ang. Bannayan-Riley-Ruvalcaba syndrome, BRRS, Bannayan-Zonana syndrome, BZS, Riley-Smith syndrome, Ruvalcaba-Myhre-Smith syndrome, RMSS) – rzadki, genetycznie uwarunkowany zespół predyspozycji do nowotworów, spowodowany mutacją w genie PTEN w locus 10q23.31. Mutacje w tym samym genie związane są z zespołem Cowden (OMIM#158350) i zespołem makrocefalia/autyzm (OMIM#605309), są to więc schorzenia alleliczne o nakładających się fenotypach chorobowych. (pl)
foaf:name	Bannayan–Riley–Ruvalcaba syndrome (en)
name	Bannayan–Riley–Ruvalcaba syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting head size Syndromes affecting the gastrointestinal tract Syndromes with tumors Deficiencies of intracellular signaling peptides and proteins Rare syndromes Syndromes affecting the nervous system Melanocytic nevi and neoplasms Soft tissue disorders
Wikipage page ID	4029585 (xsd:integer)
Wikipage revision ID	1068862830 (xsd:integer)
Link from a Wikipage to another Wikipage	Cancer Proteus syndrome List of cutaneous neoplasms associated with systemic syndromes Mesoderm Breast Peutz–Jeghers syndrome Renal Intracranial pressure Lhermitte–Duclos disease Ventricular system Molecular Mutations Lipoma Hamartoma Hemangioma dbr:PTEN_(gene) Proteus-like syndrome Macrocephaly Autosomal dominant Thyroid Tumor Cytogenetic Syndromes affecting head size Syndromes affecting the gastrointestinal tract Syndromes with tumors Deficiencies of intracellular signaling peptides and proteins Overgrowth syndrome Cell growth Rare syndromes Syndromes affecting the nervous system Melanocytic nevi and neoplasms Soft tissue disorders Juvenile polyposis syndrome Thyroid neoplasm Chromosomal Molecular genetics Thyroid adenoma

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (61 GB total memory, 55 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software