Periodic Fever, Familial, Autosomal Dominant

External Ids:

OMIM 57 142680 Disease Ontology 12 DOID:0090018 ICD10 33 E85.0 Orphanet 59 ORPHA32960 ICD10 via Orphanet 34 E85.0 UMLS via Orphanet 74 C1275126

MedGen 42 C1275126 MeSH 44 D056660 KEGG 37 H00912 SNOMED-CT via HPO 69 263681008 9826008 128473001 25786006 277843001 20741006 267038008 423666004 79654002 302227002 424131007 425075004 77643000 112625008 271807003 44653001 51510002 3723001 3238004 16294009 77957000 111583006 249497008 300359004 422400008 267060006 62315008 14760008 225595004 21522001 37796009 196075003 271789005 399090003 399153001 404640003 48661000 31996006 30746006 57676002 68962001 91019004 16046003 165468009 81060008 73013002 20255002 238810007 247441003 271811009 444827008 70819003 86735004 17602002 9551004 36948007 109245003 267041004 49563000 128496001 26889001 128045006 128936008 385627004 29857009 274718005 more UMLS 73 C3889136

NIH Rare Diseases : ⁵³ 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 hyper-igd syndrome and brucellosis. 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. Affiliated tissues include skin, eye and bone, and related phenotypes are constipation and behavioral abnormality

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Genetics Home Reference : ²⁵ 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.

Disease Ontology : ¹² A characterized by autosomal dominant inheritance of 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.

Wikipedia : ⁷⁶ TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations... more...

Description from OMIM: 142680

Clinical features from OMIM:

142680

Search NIH Clinical Center for Periodic Fever, Familial, Autosomal Dominant

Search GEO for disease gene expression data for Periodic Fever, Familial, Autosomal Dominant.