autosomal dominant familial periodic fever

Summary
Synonym
  • FHF
  • FPF
  • TNF receptor associated periodic syndrome
  • TRAPS
  • familial Hibernian fever
  • hibernian fever
  • tumor necrosis factor receptor associated periodic syndrome
Definition
A primary immunodeficiency 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.
Super Class
autosomal dominant disease primary immunodeficiency disease
External Links
Disease Ontology
DOID:0090018
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
929 CD14 CD14 molecule
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
2215 FCGR3B Fc gamma receptor IIIb
5091 PC pyruvate carboxylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
8809 IL18R1 interleukin 18 receptor 1
27036 SIGLEC7 sialic acid binding Ig like lectin 7

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024