autosomal recessive familial Mediterranean fever
Findings
No curated finding names autosomal recessive familial Mediterranean fever yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive form of familial Mediterranean fever.
Definition from the Mondo Disease Ontology (MONDO:0009572), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- PeritonitisHPOHP:0002586
- 164 of 175 reported patients
- Abdominal painHPOHP:0002027
- 353 of 446 reported patients
- Episodic abdominal painHPOHP:0002574
- 349 of 488 reported patients
- Recurrent feverHPOHP:0001954
- 520 of 819 reported patients
- ArthralgiaHPOHP:0002829
- 218 of 383 reported patients
- PleuritisHPOHP:0002102
- 54 of 115 reported patients
- ArthritisHPOHP:0001369
Show the remaining 17
- Crohn's diseaseHPOHP:0100280
- 6 of 115 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 6 of 115 reported patients
- Amyloid depositionHPOHP:0011034
- 5 of 115 reported patients
- SplenomegalyHPOHP:0001744
- 5 of 115 reported patients
- Renal amyloidosisHPOHP:0001917
- 17 of 446 reported patients
- Chronic constipationHPOHP:0012450
- 16 of 446 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MEFVHGNC:6998
- Definitive · G2P · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: autosomal recessive familial Mediterranean fever
- Also called
- familial Mediterranean fever, ARfamilial Mediterranean fever, autosomal recessive