MCID: WGN006
MIFTS: 57

Wegener Granulomatosis malady

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

Aliases & Classifications for Wegener Granulomatosis

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 32MedlinePlus, 60UMLS, 55SNOMED-CT, 38NCIt, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Wegener Granulomatosis, Aliases & Descriptions:

Name: Wegener Granulomatosis 45 9 10 41 21 47 60
Granulomatosis with Polyangiitis 41 21 47 32 60
Gpa 41 21 47
Wegener's Granulomatosis 9 21
Wegeners Granulomatosis 11 43
 
Midline Granulomatosis 41 60
Necrotizing Respiratory Granulomatosis 9
Granulomatosis - Wegener's 9
Wegener's Syndrome 9
Wg 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
wegener granulomatosis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: All ages


External Ids:

OMIM45 608710
Disease Ontology9 DOID:12132
NCIt38 C3444
ICD9CM27 446.4
MeSH33 D014890
Orphanet47 900
MESH via Orphanet34 D014890
ICD10 via Orphanet26 M31.3
UMLS via Orphanet61 C0043092
ICD1025 M31.3

Summaries for Wegener Granulomatosis

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OMIM:45 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 mononeuritis multiplex, 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 drug cyclophosphamide and 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:9 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:21 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:41 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:32 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:63 Granulomatosis with polyangiitis (GPA), the disease formerly known as Wegener\'s granulomatosis (WG), is... more...

Related Diseases for Wegener Granulomatosis

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1polyarteritis nodosa31.4PRTN3
2mononeuritis multiplex31.0PRTN3
3systemic lupus erythematosus30.9CRP
4ulcerative colitis30.5CRP, BPI, PRTN3
5thyroiditis30.3CTLA4, PTPN22
6vasculitis30.0RXRB, PRTN3, BPI, CRP, CTLA4
7arthritis29.7PTPN22, PRTN3, CRP, CTLA4
8rheumatoid arthritis29.2HLA-DPB1, PTPN22, PRTN3, BPI, CRP, CTLA4
9eosinophilic granulomatosis with polyangiitis11.1
10neuropathy10.7
11emphysema due to aat deficiency10.5PRTN3
12microscopic polyangiitis10.4
13collagen disease10.4CRP
14churg-strauss syndrome10.4
15purpura10.4
16colitis10.4
17endocarditis10.4
18intestinal perforation10.4
19peripheral neuropathy10.4
20tuberculosis10.4
21aneurysm10.4
22cytomegalovirus infection10.4
23endotheliitis10.4
24cholangitis, primary sclerosing10.3PRTN3, BPI
25spondyloarthropathy 110.3CRP, PRTN3
26juvenile rheumatoid arthritis10.2CRP, HLA-DPB1
27thrombocytosis10.2CD177, CRP
28asthma10.2
29lung cancer10.2
30pulmonary hypertension10.2
31bronchiolitis obliterans10.2
32hepatitis10.2
33ischemic optic neuropathy10.2
34mantle cell lymphoma10.2
35pulmonary fibrosis10.2
36subacute thyroiditis10.2
37bronchiolitis10.2
38bronchiolitis obliterans organizing pneumonia10.2
39diabetes insipidus10.2
40hemorrhagic cystitis10.2
41cardiac tamponade10.2
42sialadenitis10.2
43nasopharyngitis10.2
44orbital granuloma10.2
45subacute bacterial endocarditis10.2
46laryngotracheitis10.2
47tracheal stenosis10.2
48hydronephrosis10.2
49cerebritis10.2
50rapidly progressive glomerulonephritis10.2

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:

 47 (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:

Search ClinicalTrials for Wegener Granulomatosis

Search NIH Clinical Center for Wegener Granulomatosis

Inferred drug relations via UMLS60/NDF-RT39:

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:

31
Lung, Kidney, Skin, Trachea, Neutrophil, Testes, Monocytes, Prostate, Hypothalamus, Pituitary, Eye, Bone

FMA organs/tissues related to Wegener Granulomatosis:

14
Lung, Kidney, Skin

Animal Models for Wegener Granulomatosis or affiliated genes

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MGI Mouse Phenotypes related to Wegener Granulomatosis:

35
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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CTLA4, HLA-DPB1
2
Show member pathways
Anandamide biosynthesis and metabolism58
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:
43Novoseek, 49PharmGKB, 12DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Wegener Granulomatosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1infliximab43 49 1211.4CTLA4, CRP, PRTN3
2rituximab43 49 1211.4PRTN3, CRP, CTLA4
3p002439.4CTLA4, CRP, PRTN3
4polysulfone439.3CRP, BPI
5convulxin439.2PLCG2, CRP
6ly294002438.7CTLA4, CRP, PLCG2
7alanine438.6PRTN3, BPI, CRP, CTLA4
8cholesterol43 28 24 1211.2BPI, PLCG2, CRP, CTLA4
9lipid438.0CTLA4, CRP, PLCG2, BPI, PRTN3
10tyrosine437.9PTPN22, 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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet