About: Pitt–Hopkins syndrome

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Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intellectual disabilities as well also problems with socializing. It is part of the clinical spectrum of Rett-like syndromes. PTHS is estimated to occur in 1:11,000 to 1:41,000 people.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatTranscriptionFactorDeficiencies yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Lack114449405 yago:Need114449126 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة بيت هوبكنز (ar) Pitt-Hopkins-Syndrom (de) Siondróm Pitt-Hopkins (ga) Sindrome di Pitt-Hopkins (it) Pitt–Hopkins syndrome (en) Синдром Питта — Хопкинса (ru) Pitt-Hopkins syndrom (sv)
rdfs:comment	Das Pitt-Hopkins-Syndrom (Abkürzung: PTHS) ist eine sehr seltene genetische Erkrankung mit dem Hauptmerkmal eines intellektuellen Defizites, außerdem kommt es zu charakteristischen Gesichtsauffälligkeiten sowie zu abnormer und unregelmäßiger Atmung. Die Bezeichnung bezieht sich auf die Erstbeschreibung aus dem Jahre 1978 durch die australischen Ärzte D. Pitt und I. Hopkins. Erst im Jahr 2007 konnte das TCF4-Gen identifiziert werden. (de) Is éard is Siondróm Pitt-Hopkins ann ná siondróm a bhfuil moill forbartha, béal leathan, gnéithe sainniúla eile san aghaidh, hiopanálú uaineach a leantar ag an ag dul leis. Tá baint ag crómasóim 18 leis, an ghéin TCF4 go baileach. (ga) La sindrome di Pitt-Hopkins è una malattia genetica caratterizzata da un ritardo dello sviluppo corporeo, una bocca larga, e caratteristiche facciali tipiche, con iperventilazione intermittente seguita da apnea. La sindrome è associata a un'anomalia nel cromosoma 18: in particolare, essa è causata da un'espressione insufficiente del gene . (it) Pitt-Hopkins syndrom är en ovanlig genetisk sjukdom som drabbar en specifik gen i kromosom 18, kallad TCF4. Pitt-Hopkins syndrom (PTHS) kännetecknas av kognitiv och motorisk utvecklingsförsening, möjliga andningsproblem såsom episodisk hyperventilation och/eller andningsuppehåll i vaket tillstånd (55-60 procent), återkommande epileptiska anfall (40-50 procent), gastrointestinala problem, avsaknad av/eller svårigheter med tal samt distinkta ansiktsdrag. (sv) متلازمة بيت هوبكنز (بالإنجليزية: Pitt–Hopkins syndrome، واختصارًا: PTHS)، اضطراب وراثي نادر يتميز بتأخر النمو، والصرع، وملامح وجهية مميزة، وفرط التنفس المتقطع يليه انقطاع النفس. مع اكتشاف المزيد عن بيت هوبكنز، يتسع نطاق تطور الاضطراب، وقد يشمل أيضًا صعوبات كالقلق، والتوحد، واضطراب نقص الانتباه مع فرط النشاط، والاضطرابات الحسية. يرتبط بخلل في الصبغي 18؛ وبصيغة أدق، يحدث بسبب التعبير غير الكافي عن جين تي سي إف 4. (ar) Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intellectual disabilities as well also problems with socializing. It is part of the clinical spectrum of Rett-like syndromes. PTHS is estimated to occur in 1:11,000 to 1:41,000 people. (en) Синдром Питта — Хопкинса — это редкое генетическое заболевание, которое характеризуется умственной отсталостью, широким ртом и отличительными чертами лица, а также прерывистой гипервентиляцией с одышкой. По мере дальнейшего изучения синдрома Питта-Хопкинса спектр расстройств развития всё расширяется и может также включать проблемы с повышенной тревожностью, аутизмом, СДВГ и сенсорными расстройствами. Это связано с аномалией в хромосоме 18. В частности, это вызвано недостаточной экспрессией гена TCF4. (ru)
foaf:name	Pitt–Hopkins syndrome (en)
name	Pitt–Hopkins syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the eye Syndromes affecting the nervous system Transcription factor deficiencies Disorders causing seizures
Wikipage page ID	25342738 (xsd:integer)
Wikipage revision ID	1123002947 (xsd:integer)
Link from a Wikipage to another Wikipage	Encephalopathy Epilepsy Apnea Peter the Wild Boy Cyanosis Individualized Education Program Corpus callosum Cryptorchidism Rostrum of corpus callosum Electroencephalogram Constipation Contactin Angelman syndrome Anxiety Palmar crease Pervasive developmental disorder Specific developmental disorder Medical genetics Pervasive developmental disorder Distal 18q- ADHD Feral child Flat feet Caudate nucleus Chromosome 18 Chromosome 2 Chromosome 7 Haploinsufficiency Psychiatry Rett syndrome Syndromes affecting the eye Syndromes affecting the nervous system Hyperventilation Hypotonia Transcription factor deficiencies Disorders causing seizures Mowat–Wilson syndrome Idiot Human intelligence Microcephaly Seizures CNTNAP2 Chromosome 18 (human) Neurexin TCF4 Splenium NRXN1 Macule

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