MEFV - Gene browser

MEFV

MEFV innate immunity regulator, pyrin

HCNC Approved Symbol: MEFV (HGNC:6998)
Genomic Coordinates: 16:3,242,027 - 3,256,633 (16p13.3)
Synonyms: FMF, TRIM20, MEF
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

32Patients

In total, 32 patients were diagnosed with a variant in the MEFV gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

032
Patient count

Fever: 7 (21.9%)
Patient Count: 7 (21.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (21.9%)
Episodic fever: 7 (21.9%)
Patient Count: 7 (21.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (21.9%)
Anemia: 6 (18.8%)
Patient Count: 6 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (18.8%)
Splenomegaly: 6 (18.8%)
Patient Count: 6 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (18.8%)
Recurrent infections: 5 (15.6%)
Patient Count: 5 (15.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (15.6%)