About: Rothmund–Thomson syndrome

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Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatCutaneousConditions yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatProgeroidSyndromes yago:WikicatSyndromes
rdfs:label	متلازمة روثموند تومسون (ar) Rothmund-Thomson-Syndrom (de) Sindrome di Rothmund-Thomson (it) Syndrome de Rothmund-Thomson (fr) 로트문드-톰슨 증후군 (ko) Zespół Rothmunda-Thomsona (pl) Rothmund–Thomson syndrome (en) Синдром Ротмунда — Томсона (ru)
rdfs:comment	متلازمة روثموند - تومسون (بالإنجليزية: rothmund thomson syndrome)‏ وتعرف أيضاً باسم تبكل الجلد الضموري مع اعتام عدسة العين أو تبكل الجلد الخلقي، عبارة عن خلل صبغي متنحي نادر يصيب الجلد. وُصفت لأول مرة بواسطة العالم أوغست فون روثموند (1840:1906) في العام 1868. وقام العالم ماثيو سيدني تومسون (1894:1969) بنشر المزيد من تفاصيل المرض في العام 1936. كما ارتبطت متلازمة روثموند تومسون بوجود الساركومة العظمية في العديد من الحالات. (ar) Das Rothmund-Thomson-Syndrom (RTS) ist eine autosomal-rezessiv vererbte Hautkrankheit (Genodermatose). (de) Le syndrome de Rothmund-Thomson (SRT) est une maladie génétique rare caractérisée par une transmission autosomique récessive. (fr) Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome. (en) 로트문드-톰슨 증후군(Rothmund–Thomson syndrome : RTS)은 피부다형 위축증으로 알려져 있으며, 백내장이나 선천적인 피부다형증을 나타내는 말이다. 1968년에 가 상염색체 열성 유전으로 인해 나타난다는 것을 밝혔고, 1936년에 (Matthew Sydney Thomson)의 연구로 대대로 알려졌다. 이러한 질병은 골육종과 함께 나타나는데, DNA 헬리카아제인 RECQL4라는 유전자에 변형이 생겨 DNA 복제가 제대로 이루어지지 않아 생기는 병이다. (ko) La sindrome di Rothmund-Thomson è una rara genodermatosi caratterizzata da poichilodermia, anomalie scheletriche ed aumentato rischio di sviluppare osteosarcomi. (it) Cиндром Ротмунда — Томсона — это наследственное аутосомно-рецессивное заболевание, проявляющееся пойкилодермией, ювенильной катарактой, гипогонадизмом, а также аномалиями костной системы и зубов. (ru) Zespół Rothmunda-Thompsona (ang. Rothmund-Thomson syndrome, RTS) – rzadki zespół wad wrodzonych charakteryzujący się występowaniem: * niskiego wzrostu, * zmian skórnych, * , * teleangiektazje, * zmiany pigmentacji, * defektów paznokci, zębów, * wrodzonej zaćmy, * łysienia, * wrodzonych zaburzeń kostnych, * zwiększonego ryzyka zachorowania na kostniakomięsaka. (pl)
foaf:name	Rothmund–Thomson syndrome (en)
name	Rothmund–Thomson syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Genodermatoses Rare diseases Syndromes affecting the eye DNA replication and repair-deficiency disorders Syndromes affecting the skin Syndromes affecting stature Progeroid syndromes
Wikipage page ID	12994627 (xsd:integer)
Wikipage revision ID	1084522712 (xsd:integer)
Link from a Wikipage to another Wikipage	Cancer Cataract Cataracts Mutation Nucleotide excision repair Hypodontia DNA DNA damage theory of aging DNA repair DNA replication List of radiographic findings associated with cutaneous conditions Genetics Genetic carrier Mutations Osteopenia Autosomal recessive disorders Poikiloderma vasculare atrophicans Matthew Sydney Thomson Helicase Aging Genodermatoses Base excision repair Osteosarcoma Chromosome Rare diseases Syndromes affecting the eye Hair loss DNA replication and repair-deficiency disorders Hypogonadism Syndromes affecting the skin Syndromes affecting stature Progeroid syndromes Homologous recombination Dominance (genetics) August von Rothmund Autosome Chromosome 8 (human) Poikiloderma Non-homologous end joining RECQL4 Saddle nose List of cutaneous conditions ILDS

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