FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: FMF, AUTOSOMAL DOMINANT
Number of Symptoms 14
OrphanetNr:
OMIM Id: 134610
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0001917) Renal amyloidosis 8 / 7739
4
(HPO:0002829) Arthralgia 79 / 7739
5
(HPO:0005764) Polyarticular arthritis 3 / 7739
6
(HPO:0100749) Chest pain 92 / 7739
7
(HPO:0002586) Peritonitis 4 / 7739
8
(HPO:0002027) Abdominal pain 184 / 7739
9
(HPO:0001954) Episodic fever 27 / 7739
10
(HPO:0002102) Pleuritis 7 / 7739
11
(OMIM) Transient erysipelas-like erythematous rash 1 / 7739
12
(OMIM) Increased serum C-reactive protein (CRP, 123260) 2 / 7739
13
(OMIM) Migratory arthritis 1 / 7739
14
(OMIM) Fever episodes last from 3 to 10 days 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bergman and Warmenius (1968) described a Swedish family in which 4 individuals had recurrent fever and abdominal pain that persisted for 7 to 14 days. Death from renal failure occurred at ages 19, 21, 33, and 58 years. ...
Genotype-Phenotype Correlations OMIM Shohat et al. (1999) studied the association between amyloidosis and the 4 common mutations in exon 10 of the MEFV gene in a total of 83 FMF families from 3 ethnic groups, North African Jews, Armenians, and Turks. ...
Molecular genetics OMIM Booth et al. (2000) reported autosomal dominant inheritance of FMF in 5 unrelated families. A Turkish and an Indian family each had a heterozygous double mutation in the MEFV gene (608107.0018) on the same allele, and 3 unrelated ...