MCID: WGN006
MIFTS: 61

Wegener Granulomatosis malady

Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases categories

Summaries for Wegener Granulomatosis

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OMIM:47 Wegener granulomatosis (WG) is a systemic disease with a complex genetic background. It is characterized by necrotizing... (608710) more...

MalaCards based summary: Wegener Granulomatosis, also known as granulomatosis with polyangiitis, is related to polyarteritis nodosa and vasculitis, and has symptoms including abnormality of the oral cavity, sinusitis and epistaxis. An important gene associated with Wegener Granulomatosis is WG (Wegener granulomatosis), and among its related pathways are Rheumatoid arthritis and phospholipases. The compounds infliximab and rituximab have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and skin, and related mouse phenotypes are hematopoietic system and cardiovascular system.

Disease Ontology:10 An autoimmune disease that is a vasculitis that is located in lung, located in kidney, located in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.

Genetics Home Reference:23 Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is also commonly known as Wegener granulomatosis. A characteristic feature of GPA is inflammation of blood vessels (vasculitis), particularly the small- and medium-sized blood vessels in the lungs, nose, sinuses, windpipe, and kidneys, although vessels in any organ can be involved. Polyangiitis refers to the inflammation of multiple types of vessels, such as small arteries and veins. Vasculitis causes scarring and tissue death in the vessels and impedes blood flow to tissues and organs.

NIH Rare Diseases:43 Wegener's granulomatosis is a type of vasculitis, or inflammation of the blood vessels. this limits the flow of blood to important organs, causing damage. it can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs and kidneys. symptoms can vary in nature and severity, and may include sinus pain; discolored or bloody fluid from the nose; nasal ulcers; constant runny nose (rhinorrhea); joint pain; weakness; tiredness; and/or skin lesions. the cause of wegener's granulomatosis is unknown. early treatment is important. most people improve with medicines to slow or stop the inflammation. last updated: 7/27/2011

MedlinePlus:34 Granulomatosis with polyangiitis (gpa), previously known as wegener's granulomatosis, is a rare disease. it is a type of vasculitis, or inflammation of the blood vessels. the inflammation limits the flow of blood to important organs, causing damage. it can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs, and kidneys. the cause of gpa is unknown. it can affect people at any age. men and women are equally affected. it is more common in whites. symptoms may include joint pain, weakness, tiredness, and cold symptoms such as a runny nose that doesn't get better. doctors use blood tests, chest x-rays, and biopsies to diagnose gpa and rule out other causes of the symptoms. early treatment is important. most people improve with medicines to slow or stop the inflammation. nih: national institute of allergy and infectious diseases

Wikipedia:65 Granulomatosis with polyangiitis (GPA), the disease formerly known as Wegener\'s granulomatosis (WG), is... more...

Aliases & Classifications for Wegener Granulomatosis

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 57SNOMED-CT, 40NCIt, 29ICD9CM, 62UMLS, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Wegener Granulomatosis, Aliases & Descriptions:

Name: Wegener Granulomatosis 47 10 11 43 23 49
Granulomatosis with Polyangiitis 43 23 49 34
Gpa 43 23 49
Wegener's Granulomatosis 10 23
Wegeners Granulomatosis 12 45
 
Necrotizing Respiratory Granulomatosis 10
Granulomatosis - Wegener's 10
Midline Granulomatosis 43
Wegener's Syndrome 10
Wg 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
wegener granulomatosis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: All ages


External Ids:

OMIM47 608710
Disease Ontology10 DOID:12132
NCIt40 C3444
ICD9CM29 446.4
MeSH35 D014890
Orphanet49 900
MESH via Orphanet36 D014890
ICD10 via Orphanet28 M31.3
UMLS via Orphanet63 C0043092
ICD1027 M31.3

Related Diseases for Wegener Granulomatosis

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Diseases related to Wegener Granulomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1polyarteritis nodosa30.7PRTN3
2vasculitis30.5RXRB, PRTN3, BPI, CRP, CTLA4
3systemic lupus erythematosus30.4CRP
4ulcerative colitis30.3CRP, BPI, PRTN3
5thyroiditis30.3CTLA4, PTPN22
6mononeuritis multiplex30.3PRTN3
7arthritis30.1PTPN22, PRTN3, CRP, CTLA4
8rheumatoid arthritis30.0HLA-DPB1, PTPN22, PRTN3, BPI, CRP, CTLA4
9eosinophilic granulomatosis with polyangiitis11.1
10neuropathy10.7
11microscopic polyangiitis10.4
12churg-strauss syndrome10.4
13purpura10.4
14colitis10.4
15endocarditis10.4
16intestinal perforation10.4
17peripheral neuropathy10.4
18tuberculosis10.4
19aneurysm10.4
20cytomegalovirus infection10.4
21endotheliitis10.4
22asthma10.2
23lung cancer10.2
24pulmonary hypertension10.2
25bronchiolitis obliterans10.2
26hepatitis10.2
27ischemic optic neuropathy10.2
28mantle cell lymphoma10.2
29pulmonary fibrosis10.2
30subacute thyroiditis10.2
31bronchiolitis10.2
32bronchiolitis obliterans organizing pneumonia10.2
33diabetes insipidus10.2
34hemorrhagic cystitis10.2
35cardiac tamponade10.2
36sialadenitis10.2
37nasopharyngitis10.2
38orbital granuloma10.2
39subacute bacterial endocarditis10.2
40laryngotracheitis10.2
41tracheal stenosis10.2
42hydronephrosis10.2
43cerebritis10.2
44rapidly progressive glomerulonephritis10.2
45acute myocarditis10.2
46aortic aneurysm10.2
47cystitis10.2
48eosinophilia10.2
49lupus erythematosus10.2
50myocarditis10.2

Graphical network of the top 20 diseases related to Wegener Granulomatosis:



Diseases related to wegener granulomatosis

Symptoms for Wegener Granulomatosis

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Clinical features from OMIM:

608710

Symptoms:

 49 (show all 66)
  • anomalies of nose and olfaction
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • enanthema/aphtosa/aphta/leukoplakia
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • repeat respiratory infections
  • vascularitis/vasculitides/arteritis
  • renal glomerular defect/glomerulopathy
  • hematuria/microhematuria
  • transient cerebral ischemia/stroke
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • articular/joint pain/arthralgia
  • autoimmunity/autoimmune reaction/autoantibodies
  • epistaxis/nose bleeding
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • asthenia/fatigue/weakness
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • palpebral edema/periorbital edema
  • cutaneous rash
  • follicular/erythematous/edematous papules/milium
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • lung/pulmonary infiltrates
  • lung fibrosis
  • thoracic/chest pain
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • hemoptysis
  • lung/pulmonary/alveolar hemorrhage/hematoma
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • proteinuria
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • peripheral neuropathy
  • neuritis/polyneuritis/multineuritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • proptosis/exophthalmos
  • retinopathy
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • purpura/petichiae
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • intestinal perforation
  • pancreatitis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • chronic arterial hypertension
  • venous thrombosis/phlebitis/thrombophlebitis
  • gangrena/necrosis
  • ureteral stenosis/narrowing
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • renal failure
  • prostatic inflammation/prostatitis
  • diabetes insipidus
  • cranial nerves palsy
  • facial pain/cephalalgia/migraine
  • meningitis/meningeal syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sensitive trouble/deficit
  • myalgia/muscular pain

HPO human phenotypes related to Wegener Granulomatosis:

(show all 56)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 sinusitis hallmark (90%) HP:0000246
3 epistaxis hallmark (90%) HP:0000421
4 hematuria hallmark (90%) HP:0000790
5 weight loss hallmark (90%) HP:0001824
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 vasculitis hallmark (90%) HP:0002633
8 cerebral ischemia hallmark (90%) HP:0002637
9 arthralgia hallmark (90%) HP:0002829
10 autoimmunity hallmark (90%) HP:0002960
11 paresthesia hallmark (90%) HP:0003401
12 abnormality of temperature regulation hallmark (90%) HP:0004370
13 glomerulopathy hallmark (90%) HP:0100820
14 proteinuria typical (50%) HP:0000093
15 abnormality of the hypothalamus-pituitary axis typical (50%) HP:0000864
16 skin rash typical (50%) HP:0000988
17 polyneuropathy typical (50%) HP:0001271
18 nausea and vomiting typical (50%) HP:0002017
19 abdominal pain typical (50%) HP:0002027
20 respiratory insufficiency typical (50%) HP:0002093
21 hemoptysis typical (50%) HP:0002105
22 pulmonary infiltrates typical (50%) HP:0002113
23 pulmonary embolism typical (50%) HP:0002204
24 pulmonary fibrosis typical (50%) HP:0002206
25 chronic obstructive pulmonary disease typical (50%) HP:0006510
26 inflammatory abnormality of the eye typical (50%) HP:0100533
27 periorbital edema typical (50%) HP:0100539
28 chest pain typical (50%) HP:0100749
29 prostatitis occasional (7.5%) HP:0000024
30 ureteral stenosis occasional (7.5%) HP:0000071
31 renal insufficiency occasional (7.5%) HP:0000083
32 otitis media occasional (7.5%) HP:0000388
33 sensorineural hearing impairment occasional (7.5%) HP:0000407
34 retinopathy occasional (7.5%) HP:0000488
35 visual impairment occasional (7.5%) HP:0000505
36 proptosis occasional (7.5%) HP:0000520
37 hypertension occasional (7.5%) HP:0000822
38 diabetes insipidus occasional (7.5%) HP:0000873
39 seizures occasional (7.5%) HP:0001250
40 meningitis occasional (7.5%) HP:0001287
41 coronary artery disease occasional (7.5%) HP:0001677
42 abnormality of the pericardium occasional (7.5%) HP:0001697
43 pancreatitis occasional (7.5%) HP:0001733
44 subcutaneous hemorrhage occasional (7.5%) HP:0001933
45 migraine occasional (7.5%) HP:0002076
46 restrictive lung disease occasional (7.5%) HP:0002091
47 abnormality of the pleura occasional (7.5%) HP:0002103
48 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
49 myalgia occasional (7.5%) HP:0003326
50 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
51 thrombophlebitis occasional (7.5%) HP:0004418
52 intestinal obstruction occasional (7.5%) HP:0005214
53 cranial nerve paralysis occasional (7.5%) HP:0006824
54 arrhythmia occasional (7.5%) HP:0011675
55 gangrene occasional (7.5%) HP:0100758
56 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Wegener Granulomatosis

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Drug clinical trials:

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Search NIH Clinical Center for Wegener Granulomatosis

Genetic Tests for Wegener Granulomatosis

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Anatomical Context for Wegener Granulomatosis

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MalaCards organs/tissues related to Wegener Granulomatosis:

33
Lung, Kidney, Skin, Trachea, Neutrophil, Testes, Monocytes, Prostate, Hypothalamus, Pituitary, Eye, Bone

FMA organs/tissues related to Wegener Granulomatosis:

16
Lung, Kidney, Skin

Animal Models for Wegener Granulomatosis or affiliated genes

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MGI Mouse Phenotypes related to Wegener Granulomatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1CTLA4, PLCG2, PRTN3, RXRB, PTPN22
2MP:00053857.5PTPN22, RXRB, PLCG2, CRP, CTLA4
3MP:00053877.4CTLA4, CRP, PLCG2, PRTN3, RXRB, PTPN22

Publications for Wegener Granulomatosis

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Articles related to Wegener Granulomatosis:

(show all 34)
idTitleAuthorsYear
1
Nasal mucosa narrow band imaging in granulomatosis with polyangiitis (Wegener granulomatosis): A preliminary study. (25781561)
2015
2
Long-term Outcome of Airway Stenosis in Granulomatosis With Polyangiitis (Wegener Granulomatosis): An Observational Study. (25321076)
2014
3
Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood. (23729544)
2013
4
Pyoderma gangrenosum and Wegener granulomatosis-like syndrome induced by cocaine. (24252079)
2013
5
Clinical features and outcomes of 37 Argentinean patients with severe granulomatosis with polyangiitis (wegener granulomatosis). (23364664)
2013
6
Granulomatosis with polyangiitis (Wegener granulomatosis) as a differential diagnosis of sternal osteomyelitis: the challenges in diagnosis. (24263148)
2013
7
Neutrophil proteinase 3 and dipeptidyl peptidase I (cathepsin C) as pharmacological targets in granulomatosis with polyangiitis (Wegener granulomatosis). (23385856)
2013
8
Palpable purpura, gingival ulcerations and joint pain in a 24-year-old man. Granulomatosis with polyangiitis (formerly known as Wegener granulomatosis). (22726723)
2012
9
Wegener granulomatosis presenting as refractory otitis media: a case report. (22991991)
2012
10
Epidemiology and etiology of wegener granulomatosis, microscopic polyangiitis, churg-strauss syndrome and goodpasture syndrome: vasculitides with frequent lung involvement. (21674413)
2011
11
Wegener granulomatosis (granulomatosis with polyangiitis): evolving concepts in treatment. (21674414)
2011
12
Early extracorporeal life support as rescue for Wegener granulomatosis with diffuse alveolar hemorrhage and acute respiratory distress syndrome: a case report and literature review. (22158275)
2011
13
Cardiac involvement in granulomatosis with polyangiitis (Wegener granulomatosis). (21947937)
2011
14
Granulomatous choroiditis in Wegener granulomatosis. (21482884)
2011
15
EULAR/PRINTO/PRES criteria for Henoch-SchAPnlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria. (20413568)
2010
16
Isolated blue toe syndrome as the initial sign of Wegener granulomatosis. (20609674)
2010
17
EULAR/PRINTO/PRES criteria for Henoch-SchAPnlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation. (20388738)
2010
18
Mucocutaneous leishmaniasis masquerading as Wegener granulomatosis. (20375822)
2010
19
Wegener granulomatosis presenting as epididymitis. (19376569)
2009
20
Labyrinthitis related to Wegener granulomatosis: magnetic resonance imaging findings. (18097336)
2008
21
A hydrophobic patch on proteinase 3, the target of autoantibodies in Wegener granulomatosis, mediates membrane binding via NB1 receptors. (18854317)
2008
22
Mononeuritis multiplex as a presenting feature of Wegener granulomatosis: a case report. (17115101)
2007
23
On the Wegener granulomatosis associated region on chromosome 6p21.3. (16526951)
2006
24
Presentation and outcome of gastrointestinal involvement in systemic necrotizing vasculitides: analysis of 62 patients with polyarteritis nodosa, microscopic polyangiitis, Wegener granulomatosis, Churg-Strauss syndrome, or rheumatoid arthritis-associated vasculitis. (15758841)
2005
25
Transalar encephalocele associated with Wegener granulomatosis and meningeal enhancement: case report. (16091548)
2005
26
Association study with Wegener granulomatosis of the human phospholipase Cgamma2 gene. (15703080)
2005
27
Spontaneous pneumothorax in Wegener granulomatosis. (16236988)
2005
28
Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene. (15686586)
2005
29
Vasculitis: Wegener granulomatosis, Churg-Strauss syndrome, microscopic polyangiitis, polyarteritis nodosa, and Takayasu arteritis. (12418444)
2002
30
Chronic cicatrizing conjunctivitis in a patient with ocular cicatricial pemphigoid and fatal Wegener granulomatosis. (11730661)
2001
31
Wegener granulomatosis and microscopic polyangiitis. Diagnostic and clinical results in 54 patients with long-term follow-up]. (11190761)
2000
32
Structural analysis of human antibodies to proteinase 3 from patients with Wegener granulomatosis. (9218586)
1997
33
Tracheoesophageal fistula due to Wegener granulomatosis. (7769627)
1995
34
Chest radiograph in lymphomatoid granulomatosis: comparison with Wegener granulomatosis. (6606968)
1984

Variations for Wegener Granulomatosis

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Expression for genes affiliated with Wegener Granulomatosis

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Search GEO for disease gene expression data for Wegener Granulomatosis.

Pathways for genes affiliated with Wegener Granulomatosis

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Pathways related to Wegener Granulomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CTLA4, HLA-DPB1
2
Show member pathways
Anandamide biosynthesis and metabolism60
9.3PLCG2, PTPN22
3
Show member pathways
8.6CTLA4, PLCG2, PTPN22, HLA-DPB1

Compounds for genes affiliated with Wegener Granulomatosis

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank, 30IUPHAR, 26HMDB
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Compounds related to Wegener Granulomatosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1infliximab45 51 1311.4CTLA4, CRP, PRTN3
2rituximab45 51 1311.4PRTN3, CRP, CTLA4
3p002459.4CTLA4, CRP, PRTN3
4polysulfone459.3CRP, BPI
5convulxin459.2PLCG2, CRP
6ly294002458.7CTLA4, CRP, PLCG2
7alanine458.6PRTN3, BPI, CRP, CTLA4
8cholesterol45 30 26 1311.2BPI, PLCG2, CRP, CTLA4
9lipid458.0CTLA4, CRP, PLCG2, BPI, PRTN3
10tyrosine457.9PTPN22, PRTN3, PLCG2, CD177, CTLA4

GO Terms for genes affiliated with Wegener Granulomatosis

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Biological processes related to Wegener Granulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T cell costimulationGO:00312959.5CTLA4, HLA-DPB1
2T cell receptor signaling pathwayGO:00508529.3PLCG2, HLA-DPB1
3B cell receptor signaling pathwayGO:00508539.2CTLA4, PLCG2

Products for genes affiliated with Wegener Granulomatosis

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Sources for Wegener Granulomatosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet