Periodic fever, familial, autosomal dominant

Preferred Label : Periodic fever, familial, autosomal dominant;

Symbol : FPF;

CISMeF acronym : FHF; FPF; TRAPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tnf receptor-associated periodic syndrome; FHF; Tumor necrosis factor receptor-associated periodic syndrome; Hibernian fever, familial; Familial hibernian fever; TRAPS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily member 1A gene (TNFRSF1A, 191190.0001).;

Laboratory abnormalities : Increased erythrocyte sedimentation rate; Increased white blood cell count; Systemic amyloidosis may occur;

Prefixed ID : #142680;

Détails

Origin ID

142680;

UMLS CUI

C1275126;

Automatic exact mappings (from CISMeF team)
- ACP5 wt Allele [NCIt concept]
- CD40LG wt Allele [NCIt concept]
- TRRAP wt Allele [NCIt concept]
- Tartrate-Resistant Acid Phosphatase Type 5 [NCIt concept]
- Total Radical-Trap Antioxidant Potential Measurement [NCIt concept]
- Trapped [LOINC component]
- transport protein particle, TRAPP [MeSH Supplementary Concept]
- trapping [IUPAC Term]
Currated CISMeF NLP mapping
- Periodic fever, familial, autosomal dominant [MeSH concept]
- TNF receptor associated periodic syndrome [Disease (Nov.)]
- Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome [NCIt concept]
- Tumor necrosis factor receptor 1 associated periodic syndrome [ORDO Disease]
- Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) [SNOMED CT concept]
- Tumor necrosis factor receptor-associated periodic syndrome [MedDRA LLT]
- Tumour necrosis factor receptor 1 associated periodic syndrome [ICD-11 Subcategory]
- Tumour necrosis factor receptor-associated periodic syndrome [MedDRA Preferred Term]
- autosomal dominant familial periodic fever [DO Concept]
- periodic fever, familial, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant familial periodic fever [DO Concept]
False automatic mappings
- CD40 Ligand [NCIt concept]
- TNFRSF1A wt Allele [NCIt concept]
- TRAF2 wt Allele [NCIt concept]
- Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 1a [OMIM gene]
HPO term(s)
- AA amyloidosis [HPO term]
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Cervical lymphadenopathy [HPO term]
- Chronic constipation [HPO term]
- Chronic diarrhea [HPO term]
- Conjunctival hyperemia [HPO term]
- Conjunctivitis [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erysipelas [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Headache [HPO term]
- Hepatic amyloidosis [HPO term]
- Hepatomegaly [HPO term]
- Maculopapular exanthema [HPO term]
- Muscle stiffness [HPO term]
- Myalgia [HPO term]
- Myositis [HPO term]
- Oligoarthritis [HPO term]
- Periorbital edema [HPO term]
- Pleuritis [HPO term]
- Polyarticular arthritis [HPO term]
- Recurrent fever [HPO term]
- Skin rash [HPO term]
- Variable age at onset [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Tumor necrosis factor receptor 1 associated periodic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Periodic fever, familial, autosomal dominant [MeSH concept]
- TNF receptor associated periodic syndrome [Disease (Nov.)]
- Tumor necrosis factor receptor 1 associated periodic syndrome [ORDO Disease]
- Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) [SNOMED CT concept]
- Tumor necrosis factor receptor-associated periodic syndrome [MedDRA LLT]
- Tumour necrosis factor receptor-associated periodic syndrome [MedDRA Preferred Term]
- autosomal dominant familial periodic fever [DO Concept]
- periodic fever, familial, autosomal dominant [MeSH Supplementary Concept]

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