About: 22q13 deletion syndrome

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22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatAutosomalMonosomiesAndDeletions yago:WikicatChromosomalAbnormalities yago:Aberrance114503665 yago:Abnormality114501726 yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:ChromosomalAberration114504103 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Monosomy114504405 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders yago:WikicatImmuneSystemDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	متلازمة الحذف 22q13 (ar) Phelan-McDermid-Syndrom (de) 22q13 deletion syndrome (en) Síndrome deleción 22q13 (es) Sindrom delesi 22q13 (in) Syndrome délétion 22q13.3 (fr) Zespół delecji 22q13.3 (pl) Syndroom van Phelan-McDermid (nl) Síndrome de Phelan-McDermid (pt)
rdfs:comment	La deleción del extremo distal del cromosoma 22 se asocia a retrasos del desarrollo moderados a severos en habilidades motrices, de aprendizaje y lenguaje. Es conocido también como síndrome Phelan-McDermid (PMS). Se caracteriza por hipotonía neonatal, crecimiento normal a acelerado, habla ausente o gravemente retrasada, retraso global del desarrollo y rasgos faciales dismórficos menores. (es) La délétion sur le locus q13.3 du chromosome 22 provoque chez l'être humain une affection, connue sous le nom du syndrome délétion 22q13.3, ou syndrome de Phelan-MacDermid. Ce associe : * Une hypotonie néonatale ; * Une croissance normale de l’enfant ou accélérée ; * Un retard ou une absence d’acquisition du langage ; * Un développement général retardé ; * Des caractéristiques faciales mineures. (fr) Sindrom delesi 22q13 adalah sindrom karena delesi genetis pada yang menyebabkan perilaku autis, peghambatan pertumbuhan sedang hingga berat, dan keterbelakangan atau retardasi mental. Sindrom ini dsiebut juga sindrom Phelan-McDermid. (in) A Síndrome de Phelan-McDermid (PMD) é uma doença rara associada com microdeleções no cromossomo 22 especificamente a região contendo o gene SHANK3. Este gene desempenha um papel importante na função sináptica e está envolvido na organização das densidades pós-sináptica. Pacientes com síndrome de Phelan-McDermid exibem algumas características autistas como atraso de linguagem e deficiência intelectual. Devido à falta de reconhecimento clínico, a síndrome muitas vezes não é diagnosticada e a sua verdadeira incidência permanece desconhecida. (pt) متلازمة الحذف 22q13 deletion syndrome) ويشار إليها أيضا بمتلازمة مكديرميد فيلان،هو اضطراب وراثي يسببه فقدان (microdeletion) على . من الصعب الكشف عن الحذف المياكروني (microdeletion) بواسطة الفحص الجيني، ولذلك نادرا ما يعرف ، لذلك يلجأ العلماء والأطباء إلى الاختبار مرات عدة، فمن المستحسن إجراء اختبار دقيق للتأكد من التشخيص. الاختبارات الأخيرة التي قامت على تشخيص هذا المرض تشير إلى أنه قد يكون سبب أخطاء في جين واحد وهو (SHANK3/PROSAP2). (ar) 22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome. (en) Das Phelan-McDermid-Syndrom (auch 22q13.3-Deletionssyndrom, Mikrodeletion 22q13.3 oder abgekürzt PMS) ist eine primär genetisch bedingte globale Entwicklungsstörung in der Regel einhergehend mit schwerer geistiger Behinderung, fehlender Sprachentwicklung und neuromuskulären Symptomen. Die Ursache liegt in einer Mikrodeletion auf dem langen Arm des Chromosoms 22. (de) Zespół delecji 22q13.3 (zespół delecji 22q13, zespół Phelan-McDermid, ang. deletion 22q13.3 syndrome, deletion 22q13 syndrome, Phelan-McDermid syndrome) – zespół wad wrodzonych spowodowany mikrodelecją chromosomalną, obejmującą fragment długiego ramienia chromosomu 22, na którego fenotyp składają się: * hipotonia mięśniowa w okresie noworodkowym * opóźnienie rozwoju * prawidłowy lub przyspieszony wzrost * opóźnienie lub całkowite zahamowanie rozwoju mowy * drobne cechy dysmorficzne. (pl) Het syndroom van Phelan-McDermid of 22q13.3-deletie is een zeldzame afwijking van chromosoom 22 als gevolg van het feit dat een deel van het chromosoom niet compleet is. Het syndroom is vernoemd naar de Canadese onderzoeksters Mary Catherine (Katy) Phelan en Heather E. McDermid, de eersten die het beschreven. De belangrijkste symptomen zijn geestelijke achterstand en diverse lichamelijke afwijkingen. Dit kan bij individuen in verschillende vormen voorkomen. (nl)
foaf:name	22q13 deletion syndrome (en)
name	22 (xsd:integer)
foaf:depiction
dcterms:subject	Autosomal monosomies and deletions Chromosomal abnormalities Genetic anomalies Neurodevelopmental disorders
Wikipage page ID	6075481 (xsd:integer)
Wikipage revision ID	1094775830 (xsd:integer)
Link from a Wikipage to another Wikipage	Schizophrenia MicroRNA Mosaicism Base pairs Hypothyroidism DNA microarray Delayed puberty Induced pluripotent stem cell Genetic disorder Constipation Autosomal monosomies and deletions Chromosomal abnormalities Genetic anomalies Aphasia Strabismus Patent ductus arteriosus Macrocephaly Autism spectrum Autism spectrum disorder Whole genome sequencing Dolichocephaly Karyotype 22q13 deletion syndrome Neurodevelopmental disorders Chromosomal translocation Chromosome 22 Fluorescence in situ hybridization Global developmental delay Precocious puberty Gross motor skill Hypotonia Paternal AMPA receptor Syndactyly High-arched palate Phenotype Fine motor skill Microcephaly Seizures

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