AOSD
MCID: ADL030
MIFTS: 61

Adult-Onset Still's Disease (AOSD) malady

Rare diseases, Nephrological diseases, Bone diseases categories
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Summaries for Adult-Onset Still's Disease

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8Disease Ontology, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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: Adult-Onset Still's Disease, also known as adult-onset still disease, is related to arthritis and fanconi syndrome, and has symptoms including hyperlipidemia/hypercholesterolemia/hypertriglyceridemia, bone marrow failure/pancytopenia and cartilage destruction/chondrolysis. 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 liver, bone and t cells, and related mouse phenotypes are integument and skeleton.

Disease Ontology:8 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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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
adult-onset still disease:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

adult-onset still's disease 8 43
adult-onset still disease 8 49 62
adult onset still's disease 8
still's disease adult onset 43
adult-onset stills disease 10
stills disease adult-onset 45
wissler-fanconi syndrome 49
adult still's disease 43
aosd 49


External Ids:

Disease Ontology8 DOID:14256
MeSH35 D016706
ICD10 via Orphanet26 M06.1
SNOMED-CT via Orphanet59 239920006, 68190001
UMLS via Orphanet63 C0043195, C0085253
MESH via Orphanet36 D014924, D016706
ICD1025 M06.1

Related Diseases for Adult-Onset Still's Disease

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17GeneCards, 18GeneDecks
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Diseases related to Adult-Onset Still's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis29.9CRP, FCGR3A, IL18, IL1R1, MEFV, IL1RN
2fanconi syndrome10.3
3wissler's syndrome10.3
4hepatitis10.3
5hepatitis a10.1
6hemophagocytic lymphohistiocytosis10.1
7cellulitis10.1
8retroperitoneal fibrosis10.1
9systemic onset juvenile idiopathic arthritis10.1
10pyoderma gangrenosum10.1MEFV
11pleurisy10.1MEFV
12polyarteritis nodosa10.1MEFV
13hyper-igd syndrome10.1IL1RN
14lupus erythematosus10.1IL18
15septic arthritis10.1CRP
16papillary thyroid carcinoma10.1
17thyroiditis10.1
18muckle-wells syndrome10.1MEFV, IL1R1
19familial cold autoinflammatory syndrome10.0MEFV, IL1R1
20relapsing-remitting multiple sclerosis10.0IL18, IL1RN
21schnitzler syndrome10.0IL1R1, IL1RN
22lymphopenia10.0IL18, IL1RN
23graft versus host disease10.0IL1R1, IL18
24neisseria meningitidis infection10.0IL1RN, IL1R1
25alopecia areata10.0IL1R1, IL1RN
26systemic lupus erythematosus10.0CRP
27cerebral malaria10.0IL1R1, IL1RN
28iga glomerulonephritis10.0MEFV, IL1R1
29interstitial lung disease10.0IL1R1, IL1RN
30lupus nephritis10.0FCGR3A, IL18
31hypersensitivity reaction type ii disease10.0IL1RN, IL18
32sarcoidosis10.0IL1RN, IL18
33amyloidosis, secondary10.0MEFV, CRP
34familial mediterranean fever10.0CRP, MEFV
35neutropenia10.0IL1RN, FCGR3A
36type 1 diabetes mellitus10.0IL18, IL1R1
37polymyalgia rheumatica10.0CRP, IL1RN
38exanthem10.0IL1RN, CRP
39peritonitis10.0CRP, MEFV
40acute graft versus host disease10.0IL1R1, IL18, IL1RN
41amyloidosis10.0MEFV, CRP
42idiopathic pulmonary fibrosis10.0IL18, IL1R1, IL1RN
43vasculitis10.0MEFV, CRP
44glomerulonephritis10.0IL1R1, IL1RN
45arthropathy10.0IL1RN, CRP
46thrombocytopenia10.0IL1R1, FCGR3A
47multiple sclerosis10.0IL1R1, IL1RN, IL18
48psoriasis10.0FCGR3A, IL18, IL1R1
49periodontitis10.0IL1RN, FCGR3A, IL1R1
50coronary artery disease10.0CRP, 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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49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Adult-Onset Still's Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Adult-Onset Still's Disease:

33
Liver, Bone, T cells, Lymph node, Bone marrow, Skin, Thyroid, Lung, Spleen, Eye, Endothelial, Heart, Small intestine, Nk cells

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

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37MGI
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MGI Mouse Phenotypes related to Adult-Onset Still's Disease:

37
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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52PubMed
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Articles related to Adult-Onset Still's Disease:

(show top 50)    (show all 486)
idTitleAuthorsYear
1
Tocilizumab for the treatment of adult-onset Still's disease: results from a case series. (24005839)
2014
2
MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease. (24064016)
2013
3
Reactive macrophage activation syndrome possibly triggered by canakinumab in a patient with adult-onset Still's disease. (23751410)
2013
4
Tocilizumab in the treatment of the adult-onset Still's disease: current clinical evidence. (23108887)
2013
5
A case of adult-onset Still's disease complicated by hemophagocytic syndrome and interstitial pneumonia with pneumomediastinum/recurrent pneumothorax. (22898226)
2012
6
Mycoplasma pneumoniae infection associated with urticarial vasculitis mimicking adult-onset Still's disease. (21918897)
2012
7
Biological treatment in adult-onset Still's disease. (23040362)
2012
8
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
9
Retrospective study of 61 patients with adult-onset Still's disease admitted with fever of unknown origin in China. (21773715)
2012
10
Aseptic meningitis in adult onset Still's disease. (20495923)
2012
11
Adult-onset Still's disease complicated by autoimmune hepatitis: successful treatment with infliximab. (22576401)
2012
12
Adult-onset Still's disease misdiagnosed as pneumonia: two case reports. (22472935)
2011
13
Adult onset still's disease with autoimmune haemolytic anaemia: two rarities in combination. (22355977)
2011
14
Benefit and a possible risk of tocilizumab therapy for adult-onset Still's disease accompanied by macrophage-activation syndrome. (20737186)
2011
15
Hidden in plain sight: macrophage activation syndrome complicating Adult Onset Still's Disease. (23875527)
2010
16
Clinical manifestations but not cytokine profiles differentiate adult-onset Still's disease and sepsis. (20810496)
2010
17
Adult-Onset Still's Disease and cytomegalovirus infection. (20711100)
2010
18
A case of adult-onset Still's disease complicated with diffuse alveolar hemorrhage. (19270830)
2009
19
Clinical features and prognosis of adult-onset still's disease: 61 cases from China. (19273456)
2009
20
Multicentric Castleman's disease mimicking adult-onset Still's disease. (19213588)
2009
21
Association of Fcgamma receptor polymorphisms with adult onset Still's disease in Korea. (19040302)
2009
22
Adult-onset Still's disease, Schnitzler syndrome, and autoinflammatory syndromes in adulthood]. (19838717)
2009
23
Continuation of anakinra despite the development of a pruritic rash in an otherwise refractory case of adult-onset Still's disease. (19213754)
2009
24
Richter's syndrome developing in a patient with adult onset Still's disease. (18607590)
2009
25
Potential benefit of paracetamol administration in adult-onset Still's disease. (19776706)
2009
26
Etanercept as a rescue agent in patient with adult onset Still's disease complicated with congestive heart failure. (18500457)
2008
27
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
28
Adult-onset Still's disease: can recent advances in our understanding of its pathogenesis lead to targeted therapy? (17538564)
2007
29
Hemophagocytic syndrome in one patient with adult-onset Still's disease. Presentation with febrile neutropenia. (16550302)
2007
30
Celiac disease: association with adult-onset Still's disease: apropos of a clinical case. (17611347)
2007
31
Ten years of clinical experience with adult onset Still's disease: is the outcome improving? (17086384)
2007
32
Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Korean patients with adult-onset Still's disease. (17963170)
2007
33
Interleukin 1 receptor antagonist therapy-induced thrombocytopenia in adult onset Still's disease. (17407250)
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adult-Onset Still's Disease

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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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology, 54R&D Systems
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Pathways related to Adult-Onset Still's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6MEFV, IL18
2
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.5IL1R1, IL18
39.5IL18, IL1R1
4
Show member pathways
IL-1 Signaling Pathway38
IL1-mediated signaling events38
9.4IL1RN, IL1R1
59.3IL1R1, FCGR3A
6
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
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 pathways60
Immune response IL 1 signaling pathway60
9.0IL1RN, IL1R1, IL18
9
Show member pathways
9.0IL1RN, IL1R1, IL18
10
Show member pathways
9.0IL1RN, IL1R1, IL18

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

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 3BitterDB, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Adult-Onset Still's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1gold sodium thiomalate459.6IL1R1, IL1RN
2chi 2459.5IL18, IL1RN
3natalizumab45 1110.5IL18, FCGR3A
4lipoteichoic acid459.4IL1RN, IL1R1, IL18
5il 10459.4IL1R1, IL1RN, IL18
6pentoxifylline45 1110.4IL1RN, IL1R1, IL18
7tenidap45 2910.4IL1R1, CRP
8chloroquine45 3 51 29 1113.4IL1RN, IL1R1, IL18
9sodium dodecylsulfate459.4IL1R1, IL18, IL1RN
10hydroxychloroquine45 1110.4IL1R1, CRP
11latex459.1CRP, IL18, IL1RN
12homocysteine45 2410.1IL1R1, CRP, IL18
13p002459.0IL1RN, CRP, IL18
14amphotericin b459.0IL1R1, IL1RN, CRP
15atorvastatin45 51 29 24 1113.0CRP, IL1RN, IL18
16polysulfone459.0IL1RN, IL1R1, CRP
17epinephrine45 24 1111.0IL1RN, IL1R1, IL18
18sulfasalazine29 45 51 1112.0CRP, IL1RN, IL1R1
19simvastatin45 51 61 29 24 1114.0IL18, IL1RN, CRP
20cyclophosphamide45 51 1111.0IL1R1, IL18, CRP
21polyethylene glycol459.0IL1R1, CRP, IL1RN
22rantes458.9IL1RN, IL1R1, IL18
23vitamin a45 24 1110.9IL18, IL1RN, CRP
24rituximab45 51 1110.9FCGR3A, CRP, IL1R1
25anakinra45 119.7CRP, IL1RN, IL18, IL1R1
26infliximab45 51 1110.6IL1R1, IL18, CRP, IL1RN
27neopterin458.6IL18, CRP, IL1RN, IL1R1
28p003458.6IL18, IL1RN, IL1R1, CRP
29prednisolone45 29 1110.6CRP, IL1R1, IL18, IL1RN
30rosiglitazone29 45 51 24 1112.6CRP, IL1RN, IL18, IL1R1
31aspirin45 51 29 2411.6IL18, IL1R1, IL1RN, CRP
32sb 20358045 619.6CRP, IL1RN, IL1R1, IL18
33fibrinogen458.6IL18, IL1R1, IL1RN, CRP
34norepinephrine45 24 1110.6IL1R1, CRP, IL18, IL1RN
35iron45 249.6IL18, IL1R1, IL1RN, CRP
36lactate458.6IL1R1, IL18, IL1RN, CRP
37creatinine458.6IL1RN, CRP, IL1R1, IL18
38cycloheximide458.5IL18, IL1RN, CRP, IL1R1
39testosterone45 61 24 1111.5IL1R1, IL18, CRP, IL1RN
40vegf458.4CRP, IL1RN, IL18, IL1R1
41adalimumab45 51 1110.4IL1R1, CRP, IL1RN, FCGR3A
42ivig458.4FCGR3A, IL1R1, IL1RN, CRP
43alanine458.4IL18, CRP, IL1RN, IL1R1
44tyrosine458.2MEFV, IL18, IL1R1, IL1RN, FCGR3A
45endotoxin458.2MEFV, IL18, IL1RN, CRP, IL1R1
46oxygen45 249.1IL1RN, IL1R1, FCGR3A, IL18
47etanercept45 51 1110.0IL1R1, IL1RN, FCGR3A, CRP, IL18
48methotrexate51 45 1110.0IL18, IL1RN, IL1R1, CRP, FCGR3A
49cholesterol45 29 24 1111.0CRP, IL1RN, IL1R1, IL18, FCGR3A
50calcium45 51 24 1110.7FCGR3A, IL18, IL1R1, IL1RN, CRP

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

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16Gene Ontology
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Cellular components related to Adult-Onset Still's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.1CRP, IL1R1, IL18, FCGR3A

Biological processes related to Adult-Onset Still's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:0069539.1CRP, IL1RN
2inflammatory responseGO:0069548.5CRP, IL18, MEFV
3immune responseGO:0069558.3IL1RN, IL1R1, IL18, FCGR3A

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

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  • Antibodies
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Sources for Adult-Onset Still's Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet