| dbo:abstract |
Die Kranioektodermale Dysplasie (CED) ist eine sehr seltene angeborene Ektodermale Dysplasie mit den Hauptmerkmalen Zahn- und Haarfehlbildungen. Sie wird zu den Ziliopathien gerechnet. Synonyme sind: Levin Syndrom 1; Sensenbrenner-Syndrom; Sensenbrenner–Dorst–Owens Syndrom Die Erstbeschreibung stammt aus dem Jahre 1975 durch die US-amerikanischen Pädiater J. A. Sensenbrenner, J. P. Dorst, R. P. Owens. Eine weitere Beschreibung stammt aus dem Jahre 1877 von L. S. Levin und Mitarbeiter. (de) Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43—a subunit of the IFT complex A machinery of primary cilia, and WDR35 (IFT121: TULP4) It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED) (en) La displasia cranioectodermica è una displasia congenita molto rara, annoverata tra le ciliopatie, che ha per caratteristica principale l'alterazione di peli, capelli e denti. (it) |
| dbo:diseasesDB |
34682 |
| dbo:geneReviewsId |
NBK154653 |
| dbo:geneReviewsName |
Cranioectodermal Dysplasia (en) |
| dbo:icd10 |
Q87.5 |
| dbo:omim |
218330 (xsd:integer) |
| dbo:orpha |
1515 |
| dbo:synonym |
Cranioectodermal dysplasia |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
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| dbo:wikiPageWikiLink |
dbr:Electroretinography dbr:Hypodontia dbr:Dynein dbr:Dysplasia dbr:Intraflagellar_transport dbr:Corpus_callosum dbr:Brachydactyly dbr:Microdontia dbr:Dolichocephaly dbr:Dalton_(unit) dbr:Chromosome_14 dbr:Chromosome_2 dbr:Chromosome_3 dbr:Cilium dbr:Kinesin dbc:Rare_syndromes dbr:Thorax dbr:Microcephaly dbr:Sonic_hedgehog dbr:Chronic_kidney_failure dbr:Epicanthal_fold dbr:Hypohydrosis dbr:Rhizomelic_dwarfism |
| dbp:caption |
This condition is inherited in an autosomal recessive manner (en) |
| dbp:diseasesdb |
34682 (xsd:integer) |
| dbp:genereviewsname |
Cranioectodermal Dysplasia (en) |
| dbp:genereviewsnbk |
NBK154653 (en) |
| dbp:icd |
Q87.5 (en) |
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562966.0 |
| dbp:omim |
218330 (xsd:integer) |
| dbp:orphanet |
1515 (xsd:integer) |
| dbp:synonym |
Cranioectodermal dysplasia (en) |
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| dcterms:subject |
dbc:Rare_syndromes |
| gold:hypernym |
dbr:Disease |
| rdf:type |
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| rdfs:comment |
Die Kranioektodermale Dysplasie (CED) ist eine sehr seltene angeborene Ektodermale Dysplasie mit den Hauptmerkmalen Zahn- und Haarfehlbildungen. Sie wird zu den Ziliopathien gerechnet. Synonyme sind: Levin Syndrom 1; Sensenbrenner-Syndrom; Sensenbrenner–Dorst–Owens Syndrom Die Erstbeschreibung stammt aus dem Jahre 1975 durch die US-amerikanischen Pädiater J. A. Sensenbrenner, J. P. Dorst, R. P. Owens. Eine weitere Beschreibung stammt aus dem Jahre 1877 von L. S. Levin und Mitarbeiter. (de) Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43—a subunit of the IFT complex A machinery of primary cilia, and WDR35 (IFT121: TULP4) It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED) (en) La displasia cranioectodermica è una displasia congenita molto rara, annoverata tra le ciliopatie, che ha per caratteristica principale l'alterazione di peli, capelli e denti. (it) |
| rdfs:label |
Kranioektodermale Dysplasie (de) Displasia cranioectodermica (it) Sensenbrenner syndrome (en) |
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freebase:Sensenbrenner syndrome yago-res:Sensenbrenner syndrome wikidata:Sensenbrenner syndrome http://bs.dbpedia.org/resource/Sensenbrennerin_sindrom dbpedia-de:Sensenbrenner syndrome dbpedia-it:Sensenbrenner syndrome dbpedia-tr:Sensenbrenner syndrome https://global.dbpedia.org/id/4ua1n |
| prov:wasDerivedFrom |
wikipedia-en:Sensenbrenner_syndrome?oldid=1060666056&ns=0 |
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wikipedia-en:Sensenbrenner_syndrome |
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