
KEFH - Wikipedia
KEFH (99.3 FM) is a radio station broadcasting a classic hits format. Licensed to Clarendon, Texas, United States, it serves the Amarillo area. The station is currently owned by Donna and …
Entry - #148200 - KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH …
2018年3月8日 · Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients.
Keratoendotheliitis fugax hereditaria - Wikipedia
Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin [1] (also known as NALP3) that in humans is encoded by the NLRP3 gene [2] located on the long arm of chromosome 1. [3]
遗传性角膜内皮炎_遗传性角膜内皮炎疾病数据库_遗传性角膜内皮 …
与角膜内皮炎性暂时性遗传病有关的重要基因是NLRP3(NLR家族Pyrin域含3)。 相关组织包括眼睛和皮肤,相关表型为角膜炎和角膜基质混浊。 该模块正在开发中,请耐心等待我们的数据更新。 角膜内皮炎性暂时性遗传病,又称角膜暂时性遗传病,与冷凝蛋白相关周期性综合征和遗传性角膜炎有关。 与角膜内皮炎性暂时性遗传病有关的重要基因是NLRP3(NLR家族Pyrin域含3)。 相关组织包括眼睛和皮肤,相关表型为角膜炎和角膜基质混浊。
Keratitis fugax hereditaria (Concept Id: C1835697)
Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients.
Keratitis fugax hereditaria - NIH Genetic Testing Registry (GTR)
Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients.
Keratoendotheliitis Fugax Hereditaria | Hereditary Ocular Diseases
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. Am J Ophthalmol. 2018 Jan 20. pii: S0002-9394 (18)30023-0. doi: 10.1016/j.ajo.2018.01.017. [Epub ahead of print].
KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH - OMIM
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on …
KEFH | Hereditary Ocular Diseases
Recurrent ocular inflammatory episodes begin between the ages of 3 and 12 years (median age of onset 11 years). These episodes can last from a few days to several weeks and may recur several times a year. Episodes are milder and less frequent in older individuals.
Keratoendotheliitis Fugax Hereditaria - PubMed
2022年7月2日 · Keratoendotheliitis fugax hereditaria is a rare inflammatory genetic condition characterized by recurrent episodes of debilitating unilateral corneal and conjunctival hyperemia, corneal edema, visual impairment, corneal opacification, and photophobia that last for …