Familial mediterranean fever

Preferred Label : Familial mediterranean fever;

Symbol : FMF;

CISMeF acronym : FMF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyserositis, familial paroxysmal; Familial mediterranean fever, autosomal recessive; Polyserositis, recurrent;

Description : Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises (French FMF Consortium, 1997). See also autosomal dominant FMF (134610), which is caused by heterozygous mutation in the MEFV gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the pyrin gene (MEFV, 608107.0001);

Laboratory abnormalities : Prominent leukocytosis (30,000/ml); Elevated erythrocyte sedimentation rate;

Prefixed ID : #249100;

Détails

Origin ID

249100;

UMLS CUI

C0031069;

Automatic exact mappings (from CISMeF team)
- MEFV innate immuity regulator, pyrin [ORDO Gene]
- MEFV innate immunity regulator, pyrin [HGNC gene]
- Non-neuropathic heredofamilial amyloidosis [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Familial Mediterranean Fever [NCIt concept]
- Familial Mediterranean fever [ICD-11 Subcategory]
- Familial Mediterranean fever [ICD-9 code]
- Familial Mediterranean fever [ORDO Disease]
- Familial Mediterranean fever (disorder) [SNOMED CT concept]
- Familial mediterranean fever [MedDRA Preferred Term]
- Familial recurrent polyseritis [PASCAL descriptor]
- Hereditary periodic fever (disorder) [SNOMED CT concept]
- Periodic fever [MedDRA LLT]
- familial Mediterranean fever [DO Concept]
- familial mediterranean fever [Disease (Nov.)]
- familial mediterranean fever [MeSH Descriptor]
- familial mediterranean fever [MeSH concept]
- periodic disease [SNOMED Notion]
DO Cross reference
- familial Mediterranean fever [DO Concept]
Genes related to phenotype
- Mefv innate immunity regulator, pyrin [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Amyloidosis [HPO term]
- Aphthous ulcer [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chest pain [HPO term]
- Childhood onset [HPO term]
- Chronic constipation [HPO term]
- Crohn's disease [HPO term]
- Diarrhea [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating amyloid A [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Episodic abdominal pain [HPO term]
- Erysipelas [HPO term]
- Headache [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Meningitis [HPO term]
- Myalgia [HPO term]
- Nephrotic syndrome [HPO term]
- Neutrophilia [HPO term]
- Orchitis [HPO term]
- Pericarditis [HPO term]
- Peritonitis [HPO term]
- Pleural effusion [HPO term]
- Pleuritis [HPO term]
- Recurrent fever [HPO term]
- Renal amyloidosis [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Vomiting [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Familial Mediterranean fever [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Mediterranean Fever [NCIt concept]
- Familial Mediterranean fever [ICD-9 code]
- Familial Mediterranean fever (disorder) [SNOMED CT concept]
- Familial mediterranean fever [MedDRA Preferred Term]
- Familial recurrent polyserositis [MedDRA LLT]
- familial Mediterranean fever [DO Concept]
- familial mediterranean fever [MeSH Descriptor]
- familial mediterranean fever [MeSH concept]
- familial mediterranean fever [Disease (Nov.)]
- periodic disease [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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