| dbo:abstract |
Der Faktor-XIII-Mangel, d. h. ein Mangel an Fibrin-Stabilisierenden Faktor, ist eine sehr seltene Erkrankung der Hämostase. Zugrunde liegt entweder ein autosomal-rezessiv vererbter Mangel an Faktor XIII oder ein durch andere Erkrankungen sekundär verursachter, erworbener Faktor XIII-Mangel. Ein Faktor XIII-Mangel wird durch die globalen Gerinnungstests Quick und Partielle Thromboplastinzeit (aPTT) nicht erfasst. Zur Bestimmung muss die Faktor XIII-Aktivität direkt gemessen werden. (de) Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people, with higher incidence in areas with consanguineous marriage such as Iran that has the highest global incidence of the disorder. Most are due to mutations in the A subunit gene (located on chromosome 6p25-p24). This mutation is inherited in an autosomal recessive fashion. Deficiency of Factor XIII leads to defective cross-linking of fibrin and vulnerability to late re-bleeds when the primary hemostatic plug is overwhelmed. Bleeding tendencies similar to hemophiliacs develop, such as hemarthroses and deep tissue bleeding. As Factor XIII is composed of two subunit protein, A and B, for which the genes are located on different chromosomes, administration of recombinant A subunit improves clot stability and is becoming a therapeutic option for patients with this condition. (en) |
| dbo:diseasesDB |
31412 |
| dbo:eMedicineSubject |
ped (en) |
| dbo:eMedicineTopic |
3040 (en) |
| dbo:icd10 |
D68.2 |
| dbo:icd9 |
286.3 |
| dbo:meshId |
D005177 |
| dbo:omim |
134570 (xsd:integer) |
| dbo:wikiPageID |
4304755 (xsd:integer) |
| dbo:wikiPageLength |
6504 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1085176454 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Factor_xiii dbr:Homeostasis dbc:Coagulopathies dbr:Catridecacog dbr:Novo_Nordisk dbr:Recombinant_DNA dbc:Haemophilia dbr:Hemarthroses dbr:Immunogenic dbr:Fibrin dbr:Fibrinolysis dbr:Factor_XIII dbr:Pharmacokinetics dbr:US_Food_and_Drug_Administration |
| dbp:diseasesdb |
31412 (xsd:integer) |
| dbp:emedicinesubj |
ped (en) |
| dbp:emedicinetopic |
3040 (xsd:integer) |
| dbp:icd |
286.300000 (xsd:double) (en) D68.2 (en) |
| dbp:meshid |
D005177 (en) |
| dbp:name |
Factor XIII deficiency (en) |
| dbp:omim |
134570 (xsd:integer) |
| dbp:snomedCt |
18604004 (xsd:integer) |
| dbp:wikiPageUsesTemplate |
dbt:Citation_needed dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:Diseases_of_megakaryocytes |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dcterms:subject |
dbc:Coagulopathies dbc:Haemophilia |
| rdf:type |
owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition |
| rdfs:comment |
Der Faktor-XIII-Mangel, d. h. ein Mangel an Fibrin-Stabilisierenden Faktor, ist eine sehr seltene Erkrankung der Hämostase. Zugrunde liegt entweder ein autosomal-rezessiv vererbter Mangel an Faktor XIII oder ein durch andere Erkrankungen sekundär verursachter, erworbener Faktor XIII-Mangel. Ein Faktor XIII-Mangel wird durch die globalen Gerinnungstests Quick und Partielle Thromboplastinzeit (aPTT) nicht erfasst. Zur Bestimmung muss die Faktor XIII-Aktivität direkt gemessen werden. (de) Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people, with higher incidence in areas with consanguineous marriage such as Iran that has the highest global incidence of the disorder. Most are due to mutations in the A subunit gene (located on chromosome 6p25-p24). This mutation is inherited in an autosomal recessive fashion. (en) |
| rdfs:label |
Factor XIII deficiency (en) Faktor-XIII-Mangel (de) |
| owl:sameAs |
freebase:Factor XIII deficiency wikidata:Factor XIII deficiency dbpedia-de:Factor XIII deficiency http://ta.dbpedia.org/resource/காரணி_XIII_குறைபாடு https://global.dbpedia.org/id/Q8g8 http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/2367 http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/2368 http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/2369 |
| prov:wasDerivedFrom |
wikipedia-en:Factor_XIII_deficiency?oldid=1085176454&ns=0 |
| foaf:isPrimaryTopicOf |
wikipedia-en:Factor_XIII_deficiency |
| foaf:name |
Factor XIII deficiency (en) |
| is dbo:wikiPageRedirects of |
dbr:Factor_xiii_deficiency dbr:Factor_XIIIA_deficiency dbr:Factor_XIIIB_deficiency |
| is dbo:wikiPageWikiLink of |
dbr:Factor_xiii_deficiency dbr:List_of_diseases_(F) dbr:Catridecacog dbr:Willie_Gates dbr:Paddy_Holohan dbr:List_of_ICD-9_codes_280–289:_diseases_of_the_blood_and_blood-forming_organs dbr:List_of_MeSH_codes_(C16) dbr:UFC_Fight_Night:_Overeem_vs._Arlovski dbr:Khash,_Iran dbr:Blood_plasma_fractionation dbr:Factor_XIIIA_deficiency dbr:Factor_XIIIB_deficiency dbr:Factor_XIII |
| is foaf:primaryTopic of |
wikipedia-en:Factor_XIII_deficiency |