MCID: ADL030
MIFTS: 54

Adult-Onset Still's Disease malady

Rare diseases, Nephrological diseases, Bone diseases categories

Summaries for Adult-Onset Still's Disease

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NIH Rare Diseases:41 Adult-onset still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. as it progresses, adult-onset still's disease may lead to chronic arthritis and other complications. still's disease was named after an english doctor named george still, who described the condition in children in 1896. still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (jra). in 1971, the term "adult still's disease" was used to describe adults who had a condition similar to systemic onset jra. the cause of adult-onset still's disease is unknown. no risk factors for the disease have been identified. there's no cure for adult-onset still's disease; however, treatment may offer symptom relief and help prevent complications.  last updated: 5/28/2014

MalaCards based summary: Adult-Onset Still's Disease, also known as adult-onset still disease, is related to arthritis and pyoderma gangrenosum, and has symptoms including skin rash, pruritus and urticaria. An important gene associated with Adult-Onset Still's Disease is IL18 (interleukin 18 (interferon-gamma-inducing factor)), and among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and IL12-mediated signaling events. The compounds gold sodium thiomalate and chi 2 have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related mouse phenotypes are integument and skeleton.

Disease Ontology:9 An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain.

Aliases & Classifications for Adult-Onset Still's Disease

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Sources:
60UMLS, 41NIH Rare Diseases, 47Orphanet, 9Disease Ontology, 11DISEASES, 43Novoseek, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Adult-Onset Still's Disease, Aliases & Descriptions:

Name: Adult-Onset Still's Disease 9 41
Adult-Onset Still Disease 9 41 47 60
Wissler-Fanconi Syndrome 41 47
Aosd 41 47
Adult Onset Still's Disease 9
 
Still's Disease Adult Onset 41
Adult-Onset Stills Disease 11
Stills Disease Adult-Onset 43
Adult Still's Disease 41
Wissler's Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

47
adult-onset still disease:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Japan),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:14256
MeSH33 D016706
Orphanet47 829
MESH via Orphanet34 D014924, D016706
ICD10 via Orphanet26 M06.1
UMLS via Orphanet61 C0043195, C0085253
ICD1025 M06.1

Related Diseases for Adult-Onset Still's Disease

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Diseases related to Adult-Onset Still's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis29.0FCGR3A, MEFV, IL18, IL1R1, IL1RN, CRP
2pyoderma gangrenosum10.4MEFV
3pleurisy10.4MEFV
4polyarteritis nodosa10.4MEFV
5hyper-igd syndrome10.4IL1RN
6lupus erythematosus10.4IL18
7fanconi syndrome10.3
8wissler's syndrome10.3
9hepatitis10.3
10septic arthritis10.3CRP
11muckle-wells syndrome10.2IL1R1, MEFV
12familial cold autoinflammatory syndrome10.2IL1R1, MEFV
13schnitzler syndrome10.2IL1RN, IL1R1
14relapsing-remitting multiple sclerosis10.2IL1RN, IL18
15lymphopenia10.2IL1RN, IL18
16graft-versus-host disease, protection against10.2IL1R1, IL18
17neisseria meningitidis infection10.2IL1RN, IL1R1
18alopecia areata10.2IL1RN, IL1R1
19systemic lupus erythematosus10.2CRP
20malaria10.2IL1RN, IL1R1
21hemophagocytic lymphohistiocytosis10.2
22hepatitis a10.2
23cellulitis10.2
24myocarditis10.2
25retroperitoneal fibrosis10.2
26systemic onset juvenile idiopathic arthritis10.2
27interstitial lung disease10.2IL1R1, IL1RN
28iga glomerulonephritis10.1IL1R1, MEFV
29lupus nephritis10.1IL18, FCGR3A
30hypersensitivity reaction type ii disease10.1IL1RN, IL18
31sarcoidosis 110.1IL18, IL1RN
32thyroiditis10.1
33secondary amyloidosis10.1CRP, MEFV
34familial mediterranean fever, ar10.1MEFV, CRP
35neutropenia10.1IL1RN, FCGR3A
36diabetes mellitus, insulin-dependent10.1IL1R1, IL18
37polymyalgia rheumatica10.0IL1RN, CRP
38exanthem10.0IL1RN, CRP
39peritonitis10.0MEFV, CRP
40amyloidosis10.0CRP, MEFV
41acute graft versus host disease10.0IL18, IL1R1, IL1RN
42pulmonary fibrosis, idiopathic10.0IL1RN, IL1R1, IL18
43colitis10.0IL1RN, IL1R1, IL18
44vasculitis10.0MEFV, CRP
45glomerulonephritis10.0IL1R1, IL1RN
46arthropathy10.0CRP, IL1RN
47thrombocytopenia10.0IL1R1, FCGR3A
48multiple sclerosis, disease progression, modifier of10.0IL1RN, IL1R1, IL18
49psoriasis9.9FCGR3A, IL18, IL1R1
50periodontitis9.9FCGR3A, IL1R1, IL1RN

Graphical network of the top 20 diseases related to Adult-Onset Still's Disease:



Diseases related to adult-onset still's disease

Symptoms for Adult-Onset Still's Disease

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Symptoms:

 47 (show all 26)
  • cutaneous rash
  • urticaria
  • pruritus/itching
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • arthritis/synovitis/synovial proliferation
  • hyperleukocytosis/leukocytosis
  • fever/chilling
  • asthenia/fatigue/weakness
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • acute abdominal pain/colic
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • mediastinal/hilar adenopathies
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • myalgia/muscular pain
  • pharyngitis
  • hepatitis/icterus/cholestasis
  • abnormal hepatic enzymes/transaminases
  • myocardium anomalies/myocarditis
  • meningitis/meningeal syndrome
  • cartilage destruction/chondrolysis
  • bone marrow failure/pancytopenia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia

HPO human phenotypes related to Adult-Onset Still's Disease:

(show all 23)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 pruritus hallmark (90%) HP:0000989
3 urticaria hallmark (90%) HP:0001025
4 arthritis hallmark (90%) HP:0001369
5 joint swelling hallmark (90%) HP:0001386
6 splenomegaly hallmark (90%) HP:0001744
7 leukocytosis hallmark (90%) HP:0001974
8 restrictive lung disease hallmark (90%) HP:0002091
9 hepatomegaly hallmark (90%) HP:0002240
10 arthralgia hallmark (90%) HP:0002829
11 abnormality of temperature regulation hallmark (90%) HP:0004370
12 abnormality of the pericardium typical (50%) HP:0001697
13 abdominal pain typical (50%) HP:0002027
14 abnormality of the pleura typical (50%) HP:0002103
15 myalgia typical (50%) HP:0003326
16 mediastinal lymphadenopathy typical (50%) HP:0100721
17 meningitis occasional (7.5%) HP:0001287
18 abnormality of the myocardium occasional (7.5%) HP:0001637
19 elevated hepatic transaminases occasional (7.5%) HP:0002910
20 abnormality of lipid metabolism occasional (7.5%) HP:0003119
21 bone marrow hypocellularity occasional (7.5%) HP:0005528
22 cartilage destruction occasional (7.5%) HP:0100773
23 recurrent pharyngitis occasional (7.5%) HP:0100776

Drugs & Therapeutics for Adult-Onset Still's Disease

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Drug clinical trials:

Search ClinicalTrials for Adult-Onset Still's Disease

Search NIH Clinical Center for Adult-Onset Still's Disease

Genetic Tests for Adult-Onset Still's Disease

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Anatomical Context for Adult-Onset Still's Disease

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MalaCards organs/tissues related to Adult-Onset Still's Disease:

31
Bone, Liver, Bone marrow, Skin, Lung, T cells, Lymph node, Thyroid, Neutrophil, Spleen, Eye, Heart, Small intestine, Breast, Endothelial

Animal Models for Adult-Onset Still's Disease or affiliated genes

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MGI Mouse Phenotypes related to Adult-Onset Still's Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3MEFV, IL18, IL1R1, IL1RN
2MP:00053908.3IL1RN, IL1R1, MEFV, FCGR3A
3MP:00053858.2CRP, IL1RN, IL1R1, IL18
4MP:00053977.9FCGR3A, MEFV, IL18, IL1R1, IL1RN
5MP:00053877.2CRP, IL1RN, IL1R1, IL18, MEFV, FCGR3A
6MP:00053767.2FCGR3A, MEFV, IL18, IL1R1, IL1RN, CRP

Publications for Adult-Onset Still's Disease

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Articles related to Adult-Onset Still's Disease:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Adult onset Still's disease (AOSD) in the era of biologic therapies: Dichotomous view for cytokine and clinical expressions. (25183244)
2014
2
Tocilizumab for the treatment of adult-onset Still's disease: results from a case series. (24005839)
2014
3
Pathogenesis of adult-onset Still's disease: new insights from the juvenile counterpart. (25388963)
2014
4
Acalculous cholecystitis with multiple organ failure and disseminated intravascular coagulation in a patient with adult onset Still's disease. (24975054)
2014
5
MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease. (24064016)
2013
6
A case of adult-onset Still's disease complicated by hemophagocytic syndrome and interstitial pneumonia with pneumomediastinum/recurrent pneumothorax. (22898226)
2012
7
Mycoplasma pneumoniae infection associated with urticarial vasculitis mimicking adult-onset Still's disease. (21918897)
2012
8
Biological treatment in adult-onset Still's disease. (23040362)
2012
9
A case of refractory adult-onset Still's disease with high serum interleukin-18 levels treated with monitoring of serum levels of cyclosporine. (22423500)
2012
10
Retrospective study of 61 patients with adult-onset Still's disease admitted with fever of unknown origin in China. (21773715)
2012
11
Aseptic meningitis in adult onset Still's disease. (20495923)
2012
12
Adult-onset Still's disease complicated by autoimmune hepatitis: successful treatment with infliximab. (22576401)
2012
13
Adult-onset Still's disease misdiagnosed as pneumonia: two case reports. (22472935)
2011
14
Adult onset still's disease with autoimmune haemolytic anaemia: two rarities in combination. (22355977)
2011
15
Benefit and a possible risk of tocilizumab therapy for adult-onset Still's disease accompanied by macrophage-activation syndrome. (20737186)
2011
16
Hidden in plain sight: macrophage activation syndrome complicating Adult Onset Still's Disease. (23875527)
2010
17
Clinical manifestations but not cytokine profiles differentiate adult-onset Still's disease and sepsis. (20810496)
2010
18
Adult-Onset Still's Disease and cytomegalovirus infection. (20711100)
2010
19
A case of adult-onset Still's disease complicated with diffuse alveolar hemorrhage. (19270830)
2009
20
Clinical features and prognosis of adult-onset still's disease: 61 cases from China. (19273456)
2009
21
Multicentric Castleman's disease mimicking adult-onset Still's disease. (19213588)
2009
22
Association of Fcgamma receptor polymorphisms with adult onset Still's disease in Korea. (19040302)
2009
23
Adult-onset Still's disease, Schnitzler syndrome, and autoinflammatory syndromes in adulthood]. (19838717)
2009
24
Continuation of anakinra despite the development of a pruritic rash in an otherwise refractory case of adult-onset Still's disease. (19213754)
2009
25
Richter's syndrome developing in a patient with adult onset Still's disease. (18607590)
2009
26
Potential benefit of paracetamol administration in adult-onset Still's disease. (19776706)
2009
27
Etanercept as a rescue agent in patient with adult onset Still's disease complicated with congestive heart failure. (18500457)
2008
28
Anakinra in patients with treatment-resistant adult-onset Still's disease: four case reports with serial cytokine measurements and a review of the literature. (17583775)
2007
29
Adult-onset Still's disease: can recent advances in our understanding of its pathogenesis lead to targeted therapy? (17538564)
2007
30
Hemophagocytic syndrome in one patient with adult-onset Still's disease. Presentation with febrile neutropenia. (16550302)
2007
31
Celiac disease: association with adult-onset Still's disease: apropos of a clinical case. (17611347)
2007
32
Ten years of clinical experience with adult onset Still's disease: is the outcome improving? (17086384)
2007
33
Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Korean patients with adult-onset Still's disease. (17963170)
2007
34
Adult-onset Still's disease with persistent skin eruption and fatal respiratory failure in a Taiwanese woman. (17101495)
2006
35
Diagnosis and management of adult onset Still's disease. (16219707)
2006
36
Cytomegalovirus-associated hemophagocytic syndrome in a patient with adult onset Still's disease. (15789896)
2005
37
Adult onset Still's disease and collapsing glomerulopathy: successful treatment with intravenous immunoglobulins and mycophenolate mofetil. (15039497)
2004
38
Two cases of acute respiratory distress syndrome resulting from adult-onset Still's disease. (24387121)
2003
39
Humanized monoclonal anti-interleukin-6 receptor antibody for treatment of intractable adult-onset Still's disease. (12483747)
2002
40
Hepatitis A infection mimicking adult onset Still's disease. (10914871)
2000
41
Adult onset Still's disease presenting as aseptic meningitis in a young healthy female. (10363409)
1999
42
Adult-onset Still's disease in an oriental population: manifestations, course and outcome in 16 patients. (9588268)
1998
43
Schnitzler's syndrome versus adult onset Still's disease. (9649652)
1998
44
Cyclosporin A in the treatment of adult onset Still's disease. (9263155)
1997
45
Adult onset Still's disease. 16 cases. (7567848)
1995
46
Osseous tuberculosis traced by magnetic resonance imaging in a patient with adult-onset Still's disease. (8508290)
1993
47
Adult onset Still's disease and related renal amyloidosis. (2029209)
1991
48
Sensorineural hearing loss in adult onset Still's disease. (3401057)
1988
49
Adult-onset Still's disease: a case with onset during pregnancy. (4026893)
1985
50
Adult-onset Still's disease with an associated severe restrictive pulmonary defect: a case report. (6882042)
1983

Variations for Adult-Onset Still's Disease

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Expression for genes affiliated with Adult-Onset Still's Disease

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Search GEO for disease gene expression data for Adult-Onset Still's Disease.

Pathways for genes affiliated with Adult-Onset Still's Disease

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Pathways related to Adult-Onset Still's Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6IL18, MEFV
2
Show member pathways
Immune response IL 12 induced IFN gamma production58
9.5IL18, IL1R1
39.5IL1R1, IL18
4
Show member pathways
IL-1 Signaling Pathway36
IL1-mediated signaling events36
9.4IL1RN, IL1R1
59.3FCGR3A, IL1R1
6
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.1IL1RN, CRP
7
Show member pathways
9.0CRP, FCGR3A
8
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
9.0IL1RN, IL1R1, IL18
9
Show member pathways
9.0IL18, IL1R1, IL1RN
10
Show member pathways
9.0IL1RN, IL1R1, IL18

Compounds for genes affiliated with Adult-Onset Still's Disease

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Compounds related to Adult-Onset Still's Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1gold sodium thiomalate439.6IL1R1, IL1RN
2chi 2439.5IL18, IL1RN
3natalizumab43 1210.5IL18, FCGR3A
4lipoteichoic acid439.4IL1RN, IL1R1, IL18
5il 10439.4IL1R1, IL1RN, IL18
6pentoxifylline43 1210.4IL1RN, IL1R1, IL18
7tenidap43 2810.4IL1R1, CRP
8chloroquine43 2 49 28 1213.4IL1RN, IL1R1, IL18
9sodium dodecylsulfate439.4IL1R1, IL18, IL1RN
10hydroxychloroquine43 1210.4IL1R1, CRP
11latex439.1CRP, IL18, IL1RN
12homocysteine43 2410.1IL1R1, CRP, IL18
13p002439.0IL1RN, CRP, IL18
14amphotericin b439.0IL1R1, IL1RN, CRP
15atorvastatin43 49 28 24 1213.0CRP, IL1RN, IL18
16polysulfone439.0IL1RN, IL1R1, CRP
17epinephrine43 24 1211.0IL1RN, IL1R1, IL18
18sulfasalazine28 43 49 1212.0CRP, IL1RN, IL1R1
19simvastatin43 49 59 28 24 1214.0IL18, IL1RN, CRP
20cyclophosphamide43 49 1211.0IL1R1, IL18, CRP
21polyethylene glycol439.0IL1R1, CRP, IL1RN
22rantes438.9IL1RN, IL1R1, IL18
23vitamin a43 24 1210.9IL18, IL1RN, CRP
24rituximab43 49 1210.9FCGR3A, CRP, IL1R1
25anakinra43 129.7CRP, IL1RN, IL18, IL1R1
26infliximab43 49 1210.6IL1R1, IL18, CRP, IL1RN
27neopterin438.6IL18, CRP, IL1RN, IL1R1
28p003438.6IL18, IL1RN, IL1R1, CRP
29prednisolone43 28 1210.6CRP, IL1R1, IL18, IL1RN
30rosiglitazone28 43 49 24 1212.6CRP, IL1RN, IL18, IL1R1
31aspirin43 49 28 2411.6IL18, IL1R1, IL1RN, CRP
32sb 20358043 599.6CRP, IL1RN, IL1R1, IL18
33fibrinogen438.6IL18, IL1R1, IL1RN, CRP
34norepinephrine43 24 1210.6IL1R1, CRP, IL18, IL1RN
35iron43 249.6IL18, IL1R1, IL1RN, CRP
36lactate438.6IL1R1, IL18, IL1RN, CRP
37creatinine438.6IL1RN, CRP, IL1R1, IL18
38cycloheximide438.5IL18, IL1RN, CRP, IL1R1
39testosterone43 59 24 1211.5IL1R1, IL18, CRP, IL1RN
40vegf438.4CRP, IL1RN, IL18, IL1R1
41adalimumab43 49 1210.4IL1R1, CRP, IL1RN, FCGR3A
42ivig438.4FCGR3A, IL1R1, IL1RN, CRP
43alanine438.4IL18, CRP, IL1RN, IL1R1
44tyrosine438.2MEFV, IL18, IL1R1, IL1RN, FCGR3A
45endotoxin438.2MEFV, IL18, IL1RN, CRP, IL1R1
46oxygen43 249.1IL1RN, IL1R1, FCGR3A, IL18
47etanercept43 49 1210.0IL1R1, IL1RN, FCGR3A, CRP, IL18
48methotrexate49 43 1210.0IL18, IL1RN, IL1R1, CRP, FCGR3A
49cholesterol43 28 24 1211.0CRP, IL1RN, IL1R1, IL18, FCGR3A
50calcium43 49 24 1210.7FCGR3A, IL18, IL1R1, IL1RN, CRP

GO Terms for genes affiliated with Adult-Onset Still's Disease

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Cellular components related to Adult-Onset Still's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.1CRP, IL1R1, IL18, FCGR3A

Biological processes related to Adult-Onset Still's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:00069539.1CRP, IL1RN
2inflammatory responseGO:00069548.5CRP, IL18, MEFV
3immune responseGO:00069558.3IL1RN, IL1R1, IL18, FCGR3A

Products for genes affiliated with Adult-Onset Still's Disease

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Sources for Adult-Onset Still's Disease

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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