Version 2.78

Description

The MEFV gene (Mediterranean fever) [HGNC Gene ID:6998] is located on chromosome 16p13.3. This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4210] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
MEFV gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-12-16
Construct for LOINC Short Name
MEFV gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33050-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33050-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MEFV 基因
Synonyms: Familial mediterranean fever;FMF;Marenostrin;MEF;Pyrin;TRIM20;地中海热;地中海热素(Marenostrin);地中海热蛋白(Marenostrin);地中海高热素(Marenostrin);地中海高热蛋白(Marenostrin);家族性地中海热;家族性地中海热(一种遗传性周期热);家族性地中海高热;火焰素(Pyrin);火焰蛋白(Pyrin)
et-EE Estonian (Estonia) MEFV geen
es-ES Spanish (Spain) gen MEFV
it-IT Italian (Italy) MEFV, gene
Synonyms: Gene MEFV
tr-TR Turkish (Turkey) MEFV geni
ru-RU Russian (Russian Federation) MEFV ген
nl-NL Dutch (Netherlands) MEFV-gen
Synonyms: MEFV gen