Eosinophilic granulomatosis with polyangiitis

General Information (adopted from Orphanet):

Synonyms, Signs: EGPA
Churg-Strauss syndrome
Granulomatous allergic angiitis
Number of Symptoms 71
OrphanetNr: 183
OMIM Id:
ICD-10: M30.1
UMLs: C0008728
MeSH: C531653
D015267
MedDRA: 10048594
Snomed: 82275008

Prevalence, inheritance and age of onset:

Prevalence: < 1.4 of 100 000 - PMID: 25500434 [IBIS]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Anti-neutrophil cytoplasmic antibody-associated vasculitis
 -Rare circulatory system disease
 -Rare respiratory disease
 -Rare systemic or rheumatologic disease
Non-familial rare disease with dilated cardiomyopathy
 -Rare cardiac disease
Secondary glomerular disease
 -Rare renal disease
Systemic inflammatory disease associated with an acquired peripheral neuropathy
 -Rare neurologic disease

Comment:

In the clinical context of asthma and eosinophilia, anti-MPO ANCA-positivity is highly suggestive of EGPA but, conversely, ANCA-negativity does not rule out its diagnosis (PMID:25971154). The HLA-DRB1*04 and *07 alleles and the related HLADRB4 gene are associated with an increased risk of developing EGPA (PMID:25500434). Churg-Strauss syndrome has three distinct phases: (a) prodromal phase, characterized by asthma and rhinosinusitis; (b) eosinophilic phase, marked by peripheral eosinophilia and organ involvement; and (c) vasculitic phase, with clinical manifestations due to small-vessel vasculitis (PMID:26963455).

Symptom Information: Sort by abundance 

1
 (HPO:0002099) Asthma Very frequent [Orphanet] 25971154 IBIS 62 / 7739
2
 (HPO:0011944) Small vessel vasculitis 25500434 IBIS 3 / 7739
3
 (HPO:0001879) Abnormality of eosinophils Very frequent [Orphanet] 25971154 IBIS 20 / 7739
4
 (HPO:0001880) Eosinophilia 25971154 IBIS 35 / 7739
5
 (HPO:0010628) Facial palsy 25500434 IBIS 146 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment 25500434 IBIS 524 / 7739
7
 (HPO:0000388) Otitis media 25500434 IBIS 28 / 7739
8
 (HPO:0001824) Weight loss Frequent [IBIS] 49.3% (n=383) 23044708 IBIS 42 / 7739
9
 (HPO:0000099) Glomerulonephritis 25971154 IBIS 13 / 7739
10
 (HPO:0002248) Hematemesis 25971154 IBIS 12 / 7739
11
 (HPO:0000093) Proteinuria Occasional [Orphanet] Occasional [IBIS] 12.8% (n=383) 25971154 IBIS 169 / 7739
12
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 25971154 IBIS 232 / 7739
13
 (HPO:0001970) Tubulointerstitial nephritis Frequent [Orphanet] 25500434 IBIS 27 / 7739
14
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 25500434 IBIS 46 / 7739
15
 (HPO:0000790) Hematuria Frequent [Orphanet] 25971154 IBIS 106 / 7739
16
 (HPO:0100582) Nasal polyposis Occasional [Orphanet] 25500434 IBIS 14 / 7739
17
 (HPO:0000246) Sinusitis Very frequent [Orphanet] Frequent [IBIS] 41.8% (n=383) 23044708 IBIS 73 / 7739
18
 (HPO:0011109) Chronic sinusitis 25500434 IBIS 17 / 7739
19
 (HPO:0012384) Rhinitis Occasional [IBIS] 17% (n=383) 23044708 IBIS 18 / 7739
20
 (HPO:0003193) Allergic rhinitis 25500434 IBIS 6 / 7739
21
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 23044708 IBIS 81 / 7739
22
 (HPO:0012638) Abnormality of nervous system physiology Very frequent [Orphanet] 23044708 IBIS 12 / 7739
23
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] Frequent [IBIS] 51.4% (n=383) 23044708 IBIS 206 / 7739
24
 (HPO:0003401) Paresthesia 26702692 IBIS 42 / 7739
25
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 25971154 IBIS 50 / 7739
26
 (HPO:0000979) Purpura Occasional [IBIS] 22.5% (n=383) 23044708 IBIS 27 / 7739
27
 (HPO:0001482) Subcutaneous nodule Occasional [IBIS] 9.7% (n=383) 23044708 IBIS 17 / 7739
28
 (HPO:0000988) Skin rash Frequent [Orphanet] 23044708 IBIS 98 / 7739
29
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 20949297 IBIS 123 / 7739
30
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] Rare [IBIS] 3.9% (n=383) 23044708 IBIS 46 / 7739
31
 (HPO:0001025) Urticaria Very frequent [Orphanet] 25500434 IBIS 73 / 7739
32
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] Occasional [IBIS] 16.4% (n=383) 23044708 IBIS 192 / 7739
33
 (HPO:0001644) Dilated cardiomyopathy 25883756 IBIS 141 / 7739
34
 (HPO:0001697) Abnormality of the pericardium Frequent [Orphanet] 23044708 IBIS 52 / 7739
35
 (HPO:0001701) Pericarditis Occasional [IBIS] 15.1% (n=383) 23044708 IBIS 13 / 7739
36
 (HPO:0011675) Arrhythmia 25500434 IBIS 226 / 7739
37
 (HPO:0000822) Hypertension Frequent [Orphanet] 26702692 IBIS 224 / 7739
38
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 26702692 IBIS 58 / 7739
39
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 26702692 IBIS 76 / 7739
40
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 19507576 IBIS 24 / 7739
41
 (HPO:0001635) Congestive heart failure Very frequent [Orphanet] 26418389 IBIS 232 / 7739
42
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 26702692 IBIS 70 / 7739
43
 (HPO:0012089) Arteritis Very frequent [Orphanet] 20949297 IBIS 40 / 7739
44
 (HPO:0004936) Venous thrombosis Frequent [Orphanet] 22272911 IBIS 41 / 7739
45
 (HPO:0001945) Fever Occasional [Orphanet] 25500434 IBIS 218 / 7739
46
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 24574837 IBIS 55 / 7739
47
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 26759439 IBIS 410 / 7739
48
 (HPO:0002088) Abnormality of lung morphology Occasional [Orphanet] 16612766 IBIS 11 / 7739
49
 (HPO:0002113) Pulmonary infiltrates Very frequent [Orphanet] Frequent [IBIS] 38.6% (n=383) 23044708 IBIS 36 / 7739
50
 (HPO:0006535) Recurrent intrapulmonary hemorrhage Rare [IBIS] 4.2% (n=383) 23044708 IBIS 3 / 7739
51
 (HPO:0002202) Pleural effusion Occasional [IBIS] 26963455 IBIS 22 / 7739
52
 (HPO:0002103) Abnormality of the pleura Frequent [Orphanet] 16612766 IBIS 58 / 7739
53
 (HPO:0002110) Bronchiectasis 25500434 IBIS 73 / 7739
54
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 25500434 IBIS 141 / 7739
55
 (HPO:0002960) Autoimmunity Very frequent [Orphanet] 23149338 IBIS 78 / 7739
56
 (HPO:0100749) Chest pain Rare [IBIS] 7.3 % (n=383) 23044708 IBIS 92 / 7739
57
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 25971154 IBIS 859 / 7739
58
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 25473575 IBIS 158 / 7739
59
 (HPO:0003326) Myalgia Occasional [Orphanet] 25971154 IBIS 143 / 7739
60
 (HPO:0100614) Myositis Occasional [Orphanet] 25414144 IBIS 21 / 7739
61
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 25121017 IBIS 70 / 7739
62
 (HPO:0002105) Hemoptysis Occasional [Orphanet] 22640651 IBIS 30 / 7739
63
 (HPO:0002015) Dysphagia Frequent [Orphanet] 26161355 IBIS 301 / 7739
64
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 22525641 IBIS 318 / 7739
65
 (HPO:0012719) Functional abnormality of the gastrointestinal tract 25500434 IBIS 17 / 7739
66
 (HPO:0002014) Diarrhea 21977190 IBIS 225 / 7739
67
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 25971154 IBIS 134 / 7739
68
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 25971154 IBIS 184 / 7739
69
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 25473392 IBIS 84 / 7739
70
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 25473392 IBIS 35 / 7739
71
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 21977190 IBIS 42 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: