MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.140 GeneticVariation phenotype BEFREE Additionally, HSP patients with MEFV variants in exon 10 more often present with abdominal pain and intussusception. 30513227 2019
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.140 GeneticVariation phenotype BEFREE Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. 31443670 2019
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.140 Biomarker phenotype BEFREE 1.The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints.2. 27267332 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.140 Biomarker phenotype BEFREE Abdominal FMF attacks resemble the clinical presentation of 'acute abdomen', with severe abdominal pain and rigidity, but in FMF symptoms always resolve spontaneously. 15833688 2005
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.140 Biomarker phenotype HPO