About: Birt–Hogg–Dubé syndrome

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Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung (spontaneous pneumothorax). Kidney tumors, both cancerous and benign, occur in 14–34% of peo

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cancer114239918 yago:Condition113920835 yago:Cyst114202996 yago:Disease114070360 yago:GeneticDisease114151139 yago:Growth114234074 yago:IllHealth114052046 yago:Illness114061805 yago:Malignancy114237561 yago:MalignantTumor114239425 yago:PathologicalState114051917 yago:Pathology114204950 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders yago:WikicatHereditaryCancers disease yago:State100024720 yago:Tumor114235200 yago:WikicatEpidermalNevi,Neoplasms,Cysts
rdfs:label	Birt–Hogg–Dubé syndrome (en) متلازمة بيرت-هوغ-دوبي (ar) Hornstein-Knickenberg-Syndrom (de) Sindrom Birt–Hogg–Dubé (in) Syndrome de Birt-Hogg-Dubé (fr) Sindrome di Birt-Hogg-Dubé (it) Zespół Birt-Hogg-Dubé (pl) Syndroom van Birt-Hogg-Dubé (nl) Синдром Бёрта — Хога — Дьюба (ru)
rdfs:comment	متلازمة بيرت-هوغ-دوبي (بالإنجليزية: Birt–Hogg–Dubé syndrome) هي متلازمة سائدة الوراثة وفيها يكون هناك عرضة للإصابة بسرطان الكُلى والأورام غير المسرطنة في بصيلات الشعر المسماة"Fibrofolliculoma" الأعراض التي تُرى في كل عائلة تكون متفردة وتشمل أي خليط من 3 أعراض Fibrofolliculomas هي العرض الأشهر وتوجد على الوجه، والجزء العلوي من الجذع في حوالي 80% من الأشخاص المصابين بالمتلازمة فوق سن الأربعين، ولكن 25% فقط من المصابين في النهاية يحدث لديهم استرواح الصدر التلقائي. أورام الكلى الحميدة منها والخبيثة تحدث في 14-34% من الأشخاص المصابين بمتلازمة بيرت-هوغ-دوبي.سرطانات الكلى المصاحبة تكون في الغالب أورام هجينة نادرة.وجود أي من هذه الحالات في عائلة ما يدلل على التشخيص بمتلازمة بيرت-هوغ-دوبي (ar) Sindrom Birt–Hogg–Dubé (BHD), atau juga dikenal sebagai sindrom Hornstein–Birt–Hogg–Dubé, sindrom Hornstein–Knickenberg, dan fibrofolliculomas dengan trichodiscomas dan acrochordons adalah sebuah penyakit genetik yang diturunkan dari gen dominan. Sindrom ini dapat menyebabkan terjadinya kanker ginjal, penumpukan cairan di ginjal, dan kista paru-paru, serta tumor jinak di bagian folikel rambut yang disebut dengan fibrofolliculomas. (in) La sindrome di Birt-Hogg-Dubé (BHD), nota anche come sindrome di Hornstein-Knickenberg o fibrofolliculoma con tricodiscoma e acrocordoni, è una sindrome ereditaria autosomica dominante rara legata ad una mutazione del gene della (FLCN) sul cromosoma 17 scoperta nel 1977. Clinicamente v'è una grande variabilità fenotipica, persino all'interno della stessa famiglia, ma si caratterizza generalmente con una combinazione di lesioni a livello cutaneo, renale e polmonare e una maggior suscettibilità tumorale. I pazienti con BHD diagnosticata sono monitorati principalmente a livello polmonare e renale. (it) Het syndroom van Birt-Hogg-Dubé is een zeldzame autosomaal (niet-geslachtsgebonden) dominante erfelijke ziekte die zich manifesteert door huidafwijkingen. Het wordt veroorzaakt door mutaties in het BHD-gen dat codeert voor het eiwit . (nl) Синдром Бёрта — Хога — Дьюба (англ. Birt–Hogg–Dubé syndrome) — редко встречающееся аутосомно-доминантное генетическое заболевание, обусловленное мутацией в гене FLCN и проявляющееся развитием доброкачественных опухолей волосяного фолликула (фиброфолликулом), кистами в лёгких и повышенным риском возникновения рака почки (хроматофобной почечной карциномы) и рака толстого кишечника. (ru) Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung (spontaneous pneumothorax). Kidney tumors, both cancerous and benign, occur in 14–34% of peo (en) Das international auch als Birt-Hogg-Dubé bezeichnete Hornstein-Knickenberg-Syndrom ist eine autosomal erbliche Krankheit, die durch eine Mutation im Folliculin Gen verursacht wird. Sie geht mit einem erhöhten Risiko für Nierenkrebs einher. Die für die Erkrankung charakteristische Kombination aus Hautveränderungen und Lungenzysten machen aus dem eigentlich seltenen Syndrom eine potentielle Blickdiagnose. (de) Le syndrome de Birt-Hogg-Dubé associe des manifestations cutanées, des manifestations pulmonaires à type de kystes et/ ou de pneumothorax et des tumeurs du rein. Le tableau clinique varie beaucoup selon les individus. Les manifestations cutanées apparaissent entre 20 et 30 ans et augmentent en taille et en nombre avec le temps. Ces manifestations cutanées comprennent: (fr) Zespół Birt-Hogg-Dubé (ang. Birt-Hogg-Dubé syndrome, BHD, fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome) – rzadka choroba genetyczna o dziedziczeniu autosomalnym dominującym, charakteryzująca się nienowotworowymi guzami skóry twarzy, klatki piersiowej i szyi, wywodzącymi się z komórek mieszków włosowych - (fibrofolliculomata), torbielami płuc, skłonnością do samoistnej odmy opłucnowej, a także predyspozycją do guzów nowotworowych, zwłaszcza raka nerki. Zespół spowodowany jest mutacjami w genie w locus 17p11.2 kodującym folikulinę. (pl)
rdfs:seeAlso	List of cutaneous neoplasms associated with systemic syndromes
name	Birt–Hogg–Dubé syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the lung Syndromes with tumors Rare syndromes Autosomal dominant disorders Epidermal nevi, neoplasms, and cysts
Wikipage page ID	1638257 (xsd:integer)
Wikipage revision ID	1087894767 (xsd:integer)
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