Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. [From Orphanet]
Endocrine, nutritional and metabolic diseases
Metabolic disorders
16p13.3
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 134610.1 | Lebanon | Unknown | No | Abdominal pain; Periodic fever; Anemia Abdominal pain; Periodic fever; Anemia  | NM_000243.3:c.2230G>T | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 | ||
| 134610.2 | United Arab Emirates | Male | Periodic fever; Abnormal inflammatory r... Periodic fever; Abnormal inflammatory response | NM_000243.3:c.2230G>T | Heterozygous | Autosomal, Dominant | Fathalla et al. 2021 |