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Statements

Subject Item: dbr:Arylsulfatase_E
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:Chondrodysplasia_punctata
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:List_of_skin_conditions
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:Ocular_albinism_late_onset_sensorineural_deafness
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:X-linked_recessive_chondrodysplasia_punctata
rdf:type: owl:Thing yago:WikicatEnzymeDefects yago:Condition113920835 yago:State100024720 wikidata:Q12136 yago:Abstraction100002137 yago:PhysicalCondition114034177 yago:Imperfection114462666 yago:Disorder114052403 yago:Illness114061805 yago:Defect114464005 yago:IllHealth114052046 yago:PathologicalState114051917 yago:Attribute100024264 dbo:Disease yago:Disease114070360 yago:WikicatX-linkedRecessiveDisorders umbel-rc:AilmentCondition
rdfs:label: X-linked recessive chondrodysplasia punctata Chondrodysplasia punctata durch X-chromosomale Deletion
rdfs:comment: X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. The syndrome rarely affects females, but they can be carriers of the recessive allele. Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. This condition is not linked to a specific ethnicity. The mutation that leads to a deficiency in arylsulfatase E. (ARSE) occurs in the coding region of the gene. Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out Die Chondrodysplasia punctata durch X-chromosomale Deletion ist eine Sonderform einer Chondrodysplasia punctata, bei der Deletionen am kurzen Arm des X-Chromosoms ursächlich sind. Meist treten weitere Deletionen an anderen Genen auf. Synonyme sind: Chondrodysplasie mit Brachytelephalangie; X-chromosomale Chondrodysplasia punctata; Arylsulfatase E Mangel; englisch X-linked recessive chondrodysplasia punctata; Chondrodysplasia Punctata 1, X-Linked; CDPX1
foaf:name: X-linked recessive chondrodysplasia punctata
dbp:name: X-linked recessive chondrodysplasia punctata
foaf:depiction: n14:Blausen_0435_GolgiApparatus.png
dcterms:subject: dbc:Enzyme_defects dbc:Genodermatoses dbc:X-linked_recessive_disorders
dbo:wikiPageID: 21301469
dbo:wikiPageRevisionID: 1044864960
dbo:wikiPageWikiLink: dbr:Golgi_apparatus dbr:List_of_cutaneous_conditions dbr:List_of_radiographic_findings_associated_with_cutaneous_conditions dbc:Enzyme_defects dbr:Chondrodysplasia_punctata dbc:Genodermatoses dbr:Arylsulfatase_E dbc:X-linked_recessive_disorders dbr:Medical_genetics dbr:Warfarin dbr:Phenocopy n19:Blausen_0435_GolgiApparatus.png
owl:sameAs: dbpedia-de:Chondrodysplasia_punctata_durch_X-chromosomale_Deletion wikidata:Q8041561 yago-res:X-linked_recessive_chondrodysplasia_punctata n18:4xLAz freebase:m.05f5glc
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dbo:thumbnail: n14:Blausen_0435_GolgiApparatus.png?width=300
dbp:diseasesdb: 34567
dbp:icd: Q77.3
dbp:omim: 302950
dbp:field: dbr:Medical_genetics
dbo:abstract: X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. The syndrome rarely affects females, but they can be carriers of the recessive allele. Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. This condition is not linked to a specific ethnicity. The mutation that leads to a deficiency in arylsulfatase E. (ARSE) occurs in the coding region of the gene. Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 (CDPX1) gene without mutation. Stippling of the bones and cartilage is rarely seen after childhood. Phalangeal abnormalities are important clinical features to look for once the stippling is no longer visible. Other, more severe, clinical features include respiratory abnormalities, hearing loss, cervical spine abnormalities, delayed cognitive development, ophthalmologic abnormalities, cardiac abnormalities, gastroesophageal reflux, and feeding difficulties. CDPX1 actually has a spectrum of severity; different mutations within the CDPX1 gene have different effects on the catalytic activity of the ARSE protein. The mutations vary between missense, nonsense, insertions, and deletions. Die Chondrodysplasia punctata durch X-chromosomale Deletion ist eine Sonderform einer Chondrodysplasia punctata, bei der Deletionen am kurzen Arm des X-Chromosoms ursächlich sind. Meist treten weitere Deletionen an anderen Genen auf. Synonyme sind: Chondrodysplasie mit Brachytelephalangie; X-chromosomale Chondrodysplasia punctata; Arylsulfatase E Mangel; englisch X-linked recessive chondrodysplasia punctata; Chondrodysplasia Punctata 1, X-Linked; CDPX1 Die Erkrankung gehört zu den Deletionssyndromen und wurde im Jahre 1984 durch die kalifornische Kinderärztin C. Curry und Mitarbeiter beschrieben.
dbp:genereviewsname: Chondrodysplasia Punctata 1, X-Linked Recessive
dbp:genereviewsnbk: NBK1544
dbo:geneReviewsId: NBK1544
dbo:geneReviewsName: Chondrodysplasia Punctata 1, X-Linked Recessive
prov:wasDerivedFrom: wikipedia-en:X-linked_recessive_chondrodysplasia_punctata?oldid=1044864960&ns=0
dbo:wikiPageLength: 8759
dbo:diseasesDB: 34567
dbo:icd10: Q77.3
dbo:omim: 302950
foaf:isPrimaryTopicOf: wikipedia-en:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:Chondrodysplasia_punctata,_brachytelephalangic
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata
dbo:wikiPageRedirects: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:Chondrodysplasia_punctata_1,_x-linked_recessive
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata
dbo:wikiPageRedirects: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: dbr:Brachytelephalangic_chondrodysplasia_punctata
dbo:wikiPageWikiLink: dbr:X-linked_recessive_chondrodysplasia_punctata
dbo:wikiPageRedirects: dbr:X-linked_recessive_chondrodysplasia_punctata

Subject Item: wikipedia-en:X-linked_recessive_chondrodysplasia_punctata
foaf:primaryTopic: dbr:X-linked_recessive_chondrodysplasia_punctata