TRAPS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HIBERNIAN FEVER, FAMILIAL
TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME
TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME
TRAPS
FHF
FPF
Autosomal dominant periodic fever
TNF receptor 1 associated periodic syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
familial hibernian fever
Number of Symptoms 61
OrphanetNr: 32960
OMIM Id: 142680
ICD-10: E85.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Hereditary periodic fever syndrome
 -Rare genetic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
2
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
3
 (HPO:0002014) Diarrhea Occasional [Orphanet] 225 / 7739
4
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
5
 (HPO:0000978) Bruising susceptibility Occasional [Orphanet] 123 / 7739
6
 (MedDRA:10038189) Red eye 2 / 7739
7
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
8
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
9
 (HPO:0002103) Abnormality of the pleura Frequent [Orphanet] 58 / 7739
10
 (HPO:0100776) Recurrent pharyngitis Occasional [Orphanet] 18 / 7739
11
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
12
 (HPO:0001697) Abnormality of the pericardium Very frequent [Orphanet] 52 / 7739
13
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
14
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
15
 (HPO:0002621) Atherosclerosis Occasional [Orphanet] 33 / 7739
16
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
17
 (HPO:0003549) Abnormality of connective tissue Occasional [Orphanet] 22 / 7739
18
 (HPO:0000969) Edema Very frequent [Orphanet] 117 / 7739
19
 (HPO:0100665) Angioedema Occasional [Orphanet] 14 / 7739
20
 (HPO:0100539) Periorbital edema 8 / 7739
21
 (HPO:0100592) Peritoneal abscess Occasional [Orphanet] 10 / 7739
22
 (HPO:0001974) Leukocytosis Frequent [Orphanet] 33 / 7739
23
 (HPO:0100614) Myositis Occasional [Orphanet] 21 / 7739
24
 (HPO:0003552) Muscle stiffness 23 / 7739
25
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
26
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
27
 (HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
28
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
29
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
30
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
31
 (HPO:0100781) Abnormality of the sacroiliac joint Occasional [Orphanet] 6 / 7739
32
 (HPO:0100749) Chest pain Occasional [Orphanet] 92 / 7739
33
 (HPO:0002829) Arthralgia 79 / 7739
34
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
35
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
36
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
37
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
38
 (HPO:0001954) Episodic fever 27 / 7739
39
 (HPO:0005214) Intestinal obstruction Frequent [Orphanet] 35 / 7739
40
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
41
 (HPO:0012280) Hepatic amyloidosis 4 / 7739
42
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
43
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
44
 (HPO:0100537) Fasciitis Occasional [Orphanet] 2 / 7739
45
 (HPO:0100796) Orchitis Frequent [Orphanet] 7 / 7739
46
 (HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
47
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
48
 (HPO:0001055) Erysipelas Very frequent [Orphanet] 6 / 7739
49
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
50
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
51
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
52
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
53
 (HPO:0011034) Amyloidosis 12 / 7739
54
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
55
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
56
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
57
 (MedDRA:10035623) Pleuritic pain 1 / 7739
58
 (OMIM) Fever, periodic, recurrent 1 / 7739
59
 (OMIM) Migratory rashes, painful 1 / 7739
60
 (OMIM) Recurrent abdominal pain 3 / 7739
61
 (OMIM) Systemic amyloidosis may occur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Williamson et al. (1982) described an Irish-Scottish family with an autosomal dominant 'periodic disease' characterized by recurrent attacks of fever, abdominal pain, localized tender skin lesions, and myalgia. Pleurisy, leukocytosis, and high erythrocyte sedimentation rate were other features. ...
Molecular genetics OMIM McDermott et al. (1999) identified germline mutations in the TNFRSF1A gene, which had been identified as a candidate gene by linkage studies. The families studied included those reported by Mulley et al. (1998) and McDermott et al. (1998), ...