About: Keratoendotheliitis fugax hereditaria

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Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Keratoendotheliitis fugax hereditaria (en)
rdfs:comment	Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes. (en)
foaf:name	Keratoendotheliitis fugax hereditaria (en)
name	Keratoendotheliitis fugax hereditaria (en)
dcterms:subject	Autosomal dominant disorders Disorders of sclera and cornea Autoinflammatory syndromes
Wikipage page ID	56800792 (xsd:integer)
Wikipage revision ID	1101412599 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Allele Visual acuity Corneal transplantation Corticosteroid Gene Cornea Corneal endothelium Cryopyrin-associated periodic syndrome Keratitis Autosomal dominant Cryopyrin Exome Finland Finns Non-steroidal anti-inflammatory drug Chromosome 1 Autosomal dominant disorders Disorders of sclera and cornea Autoinflammatory syndromes Ophthalmologist Ophthalmology Chromosome 1 (human) Minor allele frequency Photophobia Iridocyclitis Slit lamp Confocal microscope dbr:Specular_microscope
sameAs	Keratoendotheliitis fugax hereditaria Keratoendotheliitis fugax hereditaria
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
ICD	H16.39 (en)
MeshID	C11.204.564 (en)
OMIM	148200 (xsd:integer)
field	Ophthalmology
synonyms	Keratitis fugax hereditaria (en)
has abstract	Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. In keratoendotheliitis fugax hereditaria, patients suffer from periodical transient inflammation of the corneal endothelium and stroma, leading to short term obscuration of vision and, in some patients after repeated attacks, to central corneal stromal opacities. Approximately 50 known cases have been reported in the literature. The disease so far has only been described from Finland, but exome databases suggest it may be more widely distributed in people of European ancestry. Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes. (en)
MeSH ID	C11.204.564
prov:wasDerivedFrom	wikipedia-en:Keratoendotheliitis_fugax_hereditaria?oldid=1101412599&ns=0
page length (characters) of wiki page	7327 (xsd:nonNegativeInteger)
ICD10	H16.39
OMIM id	148200 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Keratoendotheliitis_fugax_hereditaria
is Link from a Wikipage to another Wikipage of	Cryopyrin-associated periodic syndrome Keratitis NLRP3
is foaf:primaryTopic of	wikipedia-en:Keratoendotheliitis_fugax_hereditaria

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