Familial Mediterranean fever

General Information (adopted from Orphanet):

Synonyms, Signs: FMF
Benign paroxysmal peritonitis
Benign recurrent polyserositis
Periodic disease
Familial paroxysmal polyserositis
Number of Symptoms 48
OrphanetNr: 342
OMIM Id: 134610
249100
ICD-10: E85.0
UMLs: C0031069
C0585274
MeSH: D010505
MedDRA: 10016207
Snomed: 12579009
307421005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Hereditary periodic fever syndrome
 -Rare genetic disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000121) Nephrocalcinosis Occasional [Orphanet] 57 / 7739
2
 (HPO:0001917) Renal amyloidosis 8 / 7739
3
 (HPO:0000083) Renal insufficiency 232 / 7739
4
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 83 / 7739
5
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
6
 (HPO:0100796) Orchitis Occasional [Orphanet] 7 / 7739
7
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
8
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
9
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
10
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
11
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
12
 (HPO:0001369) Arthritis 44 / 7739
13
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
14
 (HPO:0005764) Polyarticular arthritis 3 / 7739
15
 (HPO:0100749) Chest pain Frequent [Orphanet] 92 / 7739
16
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
17
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
18
 (HPO:0002829) Arthralgia 79 / 7739
19
 (HPO:0005244) Gastrointestinal infarctions Occasional [Orphanet] 14 / 7739
20
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
21
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
22
 (HPO:0002014) Diarrhea Frequent [Orphanet] 225 / 7739
23
 (HPO:0002586) Peritonitis 4 / 7739
24
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
25
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
26
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
27
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
28
 (HPO:0006554) Acute hepatic failure Occasional [Orphanet] 20 / 7739
29
 (HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
30
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
31
 (HPO:0001055) Erysipelas Frequent [Orphanet] 6 / 7739
32
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
33
 (HPO:0000988) Skin rash Occasional [Orphanet] 98 / 7739
34
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
35
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
36
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
37
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
38
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
39
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
40
 (HPO:0001954) Episodic fever 27 / 7739
41
 (HPO:0010741) Edema of the lower limbs Occasional [Orphanet] 34 / 7739
42
 (HPO:0011227) Elevated C-reactive protein level Occasional [Orphanet] 55 / 7739
43
 (HPO:0002102) Pleuritis 7 / 7739
44
 (HPO:0002103) Abnormality of the pleura Frequent [Orphanet] 58 / 7739
45
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
46
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
47
 (HPO:0003621) Juvenile onset 105 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: