About: Genitopatellar syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.

Property Value
dbo:abstract
  • Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene. (en)
dbo:diseasesDB
  • 35131
dbo:icd10
  • Q87.8
dbo:omim
  • 606170 (xsd:integer)
dbo:orpha
  • 85201
dbo:wikiPageID
  • 34482099 (xsd:integer)
dbo:wikiPageLength
  • 12721 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID
  • 1096491310 (xsd:integer)
dbo:wikiPageWikiLink
dbp:diseasesdb
  • 35131 (xsd:integer)
dbp:icd
  • Q87.8 (en)
dbp:name
  • Genitopatellar syndrome (en)
dbp:omim
  • 606170 (xsd:integer)
dbp:orphanet
  • 85201 (xsd:integer)
dbp:synonyms
  • Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (en)
dbp:wikiPageUsesTemplate
dcterms:subject
rdf:type
rdfs:comment
  • Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene. (en)
rdfs:label
  • Genitopatellar syndrome (en)
owl:sameAs
prov:wasDerivedFrom
foaf:isPrimaryTopicOf
foaf:name
  • Genitopatellar syndrome (en)
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
Powered by OpenLink Virtuoso    This material is Open Knowledge     W3C Semantic Web Technology     This material is Open Knowledge    Valid XHTML + RDFa
This content was extracted from Wikipedia and is licensed under the Creative Commons Attribution-ShareAlike 3.0 Unported License