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FHF
MCID: PRD013
MIFTS: 64
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Periodic Fever, Familial, Autosomal Dominant (FHF)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Periodic Fever, Familial, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:60
tumor necrosis factor receptor 1 associated periodic syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,elderly,normal life expectancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset favorable response to high-dose steroids prevalence of 1 in 150 to 1 in 1,000 high incidence in iraqis and sephardic jewish individuals HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Skin diseases Blood diseases
ICD10:
34
35
Orphanet: 60
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases
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NIH Rare Diseases
:
54
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.
MalaCards based summary : Periodic Fever, Familial, Autosomal Dominant, also known as tumor necrosis factor receptor-associated periodic syndrome, is related to idiopathic recurrent pericarditis and stomatitis. An important gene associated with Periodic Fever, Familial, Autosomal Dominant is TNFRSF1A (TNF Receptor Superfamily Member 1A), and among its related pathways/superpathways are MAPK signaling pathway and Cytokine-cytokine receptor interaction. The drugs Colchicine and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are abdominal pain and myalgia Disease Ontology : 12 An autosomal dominant disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has material basis in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. Genetics Home Reference : 26 Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes. UniProtKB/Swiss-Prot : 76 Familial hibernian fever: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. Wikipedia : 77 TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...
Description from OMIM:
142680
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Human phenotypes related to Periodic Fever, Familial, Autosomal Dominant:60 33 (show all 45)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:142680GenomeRNAi Phenotypes related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Periodic Fever, Familial, Autosomal Dominant:47
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Drugs for Periodic Fever, Familial, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
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MalaCards organs/tissues related to Periodic Fever, Familial, Autosomal Dominant:42
Skin,
Eye,
Bone,
Endothelial,
Monocytes
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Articles related to Periodic Fever, Familial, Autosomal Dominant:(show top 50) (show all 80)
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Genes related to Periodic Fever, Familial, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Periodic Fever, Familial, Autosomal Dominant:76 (show all 13)
ClinVar genetic disease variations for Periodic Fever, Familial, Autosomal Dominant:6 (show top 50) (show all 264)
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Search
GEO
for disease gene expression data for Periodic Fever, Familial, Autosomal Dominant.
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Pathways related to Periodic Fever, Familial, Autosomal Dominant according to KEGG:38
Pathways related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 31)
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Cellular components related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Periodic Fever, Familial, Autosomal Dominant according to GeneCards Suite gene sharing:
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