MCID: PNV001
MIFTS: 45

Panuveitis malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Panuveitis

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NIH Rare Diseases:41 Panuveitis is inflammation of all layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. these make up the middle layer of the eye. the condition can also affect the lens, retina, optic nerve, and vitreous, causing reduced vision or blindness. signs and symptoms may include eye redness and pain; blurring; light sensitivity; decreased vision; and seeing floaters. it can last for a short time or can occur chronically. severe cases may recur many times. in many cases the specific cause is unknown, but in some cases it occurs in association with other eye conditions, or with another condition or infection that also affects other body parts. early treatment is needed and may include eye drops to reduce inflammation and pain, and/or oral medications or injections in severe cases. last updated: 7/22/2014

MalaCards based summary: Panuveitis, also known as familial recurrent peripheral facial palsy, is related to blau syndrome and uveitis, and has symptoms including autosomal dominant inheritanceand facial palsy. An important gene associated with Panuveitis is IFNA2 (interferon, alpha 2), and among its related pathways are Interferon Pathway and Regulation of autophagy. The compounds pegasys and entecavir have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and t cells, and related mouse phenotype tumorigenesis.

Aliases & Classifications for Panuveitis

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 38NCIt, 26ICD10 via Orphanet
See all sources

Panuveitis, Aliases & Descriptions:

Name: Panuveitis 9 41 43 60
Familial Recurrent Peripheral Facial Palsy 41 47
Inflammation of the Whole Uveal Tract 41 60
 
Facial Palsy, Familial Recurrent Peripheral 60
Diffuse Uveitis 9
Total Uveitis 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:12030
ICD9CM27 360.12
MeSH33 D015864
SNOMED-CT55 75614007
NCIt38 C84989
Orphanet47 2809
ICD10 via Orphanet26 G51.0

Related Diseases for Panuveitis

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1blau syndrome30.5TNF
2uveitis30.5IL10, IFNA2, TNF
3vasculitis30.4IFNA2, TNF
4atopic dermatitis29.8IL10, TNF
5melanoma29.3TNF, IFNA1, IFNA2, IL10
6choroiditis10.7
7multifocal choroiditis10.6
8retinitis10.5
9lymphomatoid granulomatosis10.5IFNA2
10recurrent peripheral facial palsy10.5
11polyarteritis nodosa10.4IFNA2
12stomatitis10.4IFNA2
13leishmaniasis10.4IL10
14idiopathic panuveitis10.3
15punctate inner choroidopathy10.3
16skin disease10.3IFNA1
17classic kaposi sarcoma10.2IFNA1
18posterior uveitis10.2
19chorioretinitis10.2
20retinal detachment10.2
21tuberculosis10.2
22arthritis10.2
23scleritis10.2
24syphilis10.2
25alcoholic hepatitis10.2IL10, TNF
26acute graft versus host disease10.1TNF, IL10
27malaria10.1IL10, TNF
28demyelinating disease10.1IL10, TNF
29periodontitis10.1TNF, IL10
30cryoglobulinemia, familial mixed10.1IFNA2, IFNA1
31cryoglobulinemia10.1IFNA2, IFNA1
32hepatitis d10.1IFNA2, IFNA1
33graft-versus-host disease, protection against10.1IL10, TNF
34hypothyroidism10.1IFNA2, IFNA1
35sezary's disease10.1IFNA1, IFNA2
36essential thrombocythemia10.1IFNA1, IFNA2
37splenomegaly10.1IFNA1, IFNA2
38adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency10.1IFNA1, IFNA2
39hcl-v10.1IFNA1, IFNA2
40intraocular lymphoma10.1
41leukemia10.1
42pulmonary tuberculosis10.1
43leptospirosis10.1
44acquired immunodeficiency syndrome10.1
45cerebritis10.1
46adenocarcinoma10.1
47herpes simplex10.1
48histoplasmosis10.1
49hypopyon10.1
50neuritis10.1

Graphical network of the top 20 diseases related to Panuveitis:



Diseases related to panuveitis

Symptoms for Panuveitis

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HPO human phenotypes related to Panuveitis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 facial palsy HP:0010628

Drugs & Therapeutics for Panuveitis

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Drug clinical trials:

Search ClinicalTrials for Panuveitis

Search NIH Clinical Center for Panuveitis

Genetic Tests for Panuveitis

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Anatomical Context for Panuveitis

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MalaCards organs/tissues related to Panuveitis:

31
Eye, Retina, T cells, Bone marrow, Bone, Colon, Liver, Testes

Animal Models for Panuveitis or affiliated genes

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MGI Mouse Phenotypes related to Panuveitis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5IL10, UACA, TNF

Publications for Panuveitis

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Articles related to Panuveitis:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Ten-year Perplexing Panuveitis Course in a Case with Juvenile Idiopathic Arthritis and a History of Tuberculosis. (24988273)
2014
2
MULTIFOCAL CHOROIDITIS WITHOUT PANUVEITIS: Clinical Characteristics and Progression. (23670288)
2014
3
Aids-related primary CNS non-Hodgkin's lymphoma in a patient with previous Epstein-Barr virus panuveitis. A clinico-pathological report. (25443210)
2014
4
Biopsy-proven case of childhood primary angiitis of the central nervous system presenting with bilateral panuveitis and anisocoria. (24962051)
2014
5
Unusual panuveitis in a child: toxocariasis associated with ocular myiasis. (24916981)
2014
6
Sarcoid panuveitis associated with etanercept treatment, resolving with adalimumab. (24005973)
2013
7
Redefining multifocal choroiditis and panuveitis and punctate inner choroidopathy through multimodal imaging. (23584703)
2013
8
Fulminant Panuveitis following Iris Suture Fixation of Posterior Chamber Intraocular Lens. (23476849)
2013
9
Successful treatment of corneal wasp sting-induced panuveitis with vitrectomy. (23514564)
2013
10
Long-term control of non-infectious paediatric panuveitis refractory to traditional immunesuppressive therapy, successfully treated with Adalimumab (HumiraTM). (23464830)
2013
11
HLA-DR, DQ Class II DNA Typing in Pediatric Panuveitis and Tubulointerstitial Nephritis and Uveitis (TINU). (24321473)
2013
12
Positive immunostaining for feline infectious peritonitis (FIP) in a Sphinx cat with cutaneous lesions and bilateral panuveitis. (23607772)
2013
13
Infectious causes of posterior uveitis and panuveitis in Thailand. (22539102)
2012
14
Levofloxacin-associated panuveitis with chorioretinal lesions. (23044958)
2012
15
Cytomegalovirus panuveitis associated with papillitis in an immunocompetent patient. (22883854)
2012
16
High prevalence of anelloviruses in vitreous fluid of children with seasonal hyperacute panuveitis. (22492851)
2012
17
Sweet's syndrome with panuveitis resembling BehAset's disease. (22399310)
2012
18
Herpes simplex encephalitis presenting after steroid treatment of panuveitis. (21770880)
2011
19
Randomized comparison of systemic anti-inflammatory therapy versus fluocinolone acetonide implant for intermediate, posterior, and panuveitis: the multicenter uveitis steroid treatment trial. (21840602)
2011
20
Punctate inner choroidopathy and multifocal choroiditis with panuveitis share haplotypic associations with IL10 and TNF loci. (21357402)
2011
21
A single infliximab infusion vs corticosteroids for acute panuveitis attacks in BehAset's disease: a comparative 4-week study. (21097877)
2011
22
Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis. (20029155)
2010
23
Very severe HLA B27-associated panuveitis mimicking endophthalmitis: a case series. (20370345)
2010
24
Syphilitic retinitis and panuveitis simulating acute retinal necrosis: case report. (20730290)
2010
25
Syphilitic panuveitis with retinal necrosis in an HIV positive man confirmed by Treponema pallidum PCR. (19766672)
2009
26
Panuveitis associated with granuloma annulare in a child. (19213278)
2009
27
Disseminated cutaneous Mycobacterium chelonae infection with multidrug resistance in a patient with panuveitis. (18021269)
2008
28
Ocular BehAset's disease presenting with retinal tear and panuveitis. (18344955)
2008
29
Molecular diagnosis of a bilateral panuveitis due to Borrelia burgdorferi sensu lato by cerebral spinal fluid analysis. (18503173)
2008
30
Primary intraocular lymphoma mimicking multifocal choroiditis and panuveitis. (17304253)
2007
31
A case of panuveitis with optic disc neovascularization associated with juvenile idiopathic arthritis which progressed during a clinical trial of etanercept]. (18186220)
2007
32
Multifocal choroiditis with panuveitis and punctate inner choroidopathy: comparison of clinical characteristics at presentation. (18046221)
2007
33
Optic neuropathy complicating multifocal choroiditis and panuveitis. (17386295)
2007
34
Peripapillary subretinal fibrosis: a characteristic finding of multifocal choroiditis and panuveitis. (15689822)
2005
35
Demonstration of varicella zoster virus in a case of presumed seasonal hyperacute panuveitis. (16333178)
2005
36
Bilateral panuveitis in HIV-1-infected patients with CD8 lymphocytosis. (16159723)
2005
37
Rifabutin-associated panuveitis with retinal vasculitis in pulmonary tuberculosis. (16321897)
2005
38
Panuveitis associated with multiple sclerosis complicated by cerebral venous thrombosis. (15512986)
2004
39
Ocular filariasis due to Wuchereria bancrofti presenting as panuveitis: a case report. (14533034)
2003
40
Treatment of subfoveal choroidal neovascularization associated with multifocal choroiditis and panuveitis with photodynamic therapy. (12441718)
2002
41
Syphilitic panuveitis and asymptomatic neurosyphilis: a marker of HIV infection. (11589818)
2001
42
Peripheral multifocal chorioretinitis with panuveitis: clinical and immunogenetic characterization in older patients. (9646091)
1998
43
Panuveitis responsive to 2-CdA: an unusual ocular presentation of hairy cell leukemia. (8833410)
1996
44
Bilateral panuveitis in a boy with hypogammaglobulinemia and high IgM. (7970542)
1994
45
Panuveitis and multifocal retinitis in a patient with leucocytoclastic vasculitis. (8318473)
1993
46
Tuberculin-triggered panuveitis in a patient recently treated for active pulmonary tuberculosis. (8250087)
1993
47
Cytomegalovirus panuveitis with infection of corneo-trabecular endothelium in AIDS. (2852787)
1988
48
Arthritis and panuveitis as manifestations of Borrelia burgdorferi infection in a Wisconsin pony. (3793582)
1986
49
Multifocal choroiditis and panuveitis. A syndrome that mimics ocular histoplasmosis. (6508619)
1984
50
Seasonal hyperacute panuveitis of unknown etiology. (6703576)
1984

Variations for Panuveitis

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Expression for genes affiliated with Panuveitis

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Search GEO for disease gene expression data for Panuveitis.

Pathways for genes affiliated with Panuveitis

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Pathways related to Panuveitis according to GeneCards Suite gene sharing:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IFNA1, IFNA2
29.5IFNA1, IFNA2
3
Show member pathways
9.5IFNA2, IFNA1
49.5IFNA1, IFNA2
5
Show member pathways
9.5IFNA1, IFNA2
69.5IFNA2, IFNA1
79.3IL10, TNF
89.3IL10, TNF
99.3IL10, TNF
10
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.3TNF, IL10
119.3TNF, IL10
129.3TNF, IL10
13
Show member pathways
IL27-mediated signaling events36
9.3IL10, TNF
14
Show member pathways
9.3TNF, IL10
159.3IL10, TNF
16
Show member pathways
Type III interferon signaling36
9.0IFNA1, IL10, IFNA2
17
Show member pathways
8.9IFNA2, IFNA1, TNF
188.9TNF, IFNA1, IFNA2
19
Show member pathways
8.9IFNA2, TNF, IFNA1
20
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
8.9TNF, IFNA1, IFNA2
21
Show member pathways
Immune response CD16 signaling in NK cells58
8.9TNF, IFNA1, IFNA2
22
Show member pathways
8.4TNF, IFNA1, IFNA2, IL10
23
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.4TNF, IL10, IFNA2, IFNA1
248.4IFNA2, TNF, IFNA1, IL10
25
Show member pathways
8.4IFNA2, IL10, TNF, IFNA1
268.4IFNA2, IFNA1, TNF, IL10
27
Show member pathways
8.4TNF, IL10, IFNA2, IFNA1

Compounds for genes affiliated with Panuveitis

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Compounds related to Panuveitis according to GeneCards Suite gene sharing:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1pegasys439.9IFNA2, IFNA1
2entecavir439.9IFNA1, IFNA2
3intron a439.9IFNA1, IFNA2
4n-phosphonacetyl-l-aspartate439.9IFNA2, IFNA1
5famciclovir43 1210.8IFNA2, IFNA1
6mizoribine439.8IFNA1, IFNA2
7anagrelide43 1210.8IFNA1, IFNA2
8lomustine43 1210.8IFNA2, IFNA1
9betaseron439.8IL10, IFNA1
10pentostatin43 59 28 1212.8IFNA1, IFNA2
115-deoxy-5-fluorouridine439.8IFNA1, IFNA2
12adefovir439.8IFNA2, IFNA1
13cdp571439.7IL10, TNF
14interferon gamma439.7IL10, TNF
15amantadine43 1210.6IFNA2, IFNA1
16hydroxychloroquine43 1210.6TNF, IFNA2
17gabexate mesilate439.6TNF, IL10
18blys439.6IL10, TNF
19toxin-1439.5TNF, IL10
20acitretin43 1210.5IFNA2, IFNA1
21ulinastatin439.5TNF, IL10
22lamivudine43 49 1211.4IL10, IFNA2, IFNA1
23mip 1alpha439.4TNF, IL10
24ribavirin43 49 1211.4IFNA1, IL10, IFNA2
25ifn-alpha439.4IFNA2, IFNA1, IL10
26zidovudine43 49 1211.4IFNA1, IFNA2, IL10
27hydroxyurea43 49 1211.4IFNA2, IFNA1, IL10
28thymidylate439.4IL10, IFNA2, IFNA1
29glatiramer acetate43 1210.3IFNA1, IL10
30etanercept43 49 1211.3TNF, IFNA2, IL10
31cyclophosphamide43 49 1211.3IFNA1, IFNA2, IL10
32infliximab43 49 1211.3IL10, TNF, IFNA2
33melphalan43 49 1211.3IFNA2, IFNA1, TNF
34il-12439.2IL10, IFNA1, TNF
35indoleamine439.2IFNA1, TNF, IL10
36polyinosinic-polycytidylic acid439.2IL10, TNF, IFNA1
37mycophenolate mofetil43 49 1211.2IFNA1, TNF, IL10
38ccl343 2810.2IFNA1, TNF, IL10
39chloroquine43 2 49 28 1213.2IL10, TNF, IFNA1
40tacrolimus43 49 1211.1IL10, TNF, IFNA1
41natalizumab43 1210.0IL10, TNF
42rantes438.8IFNA1, TNF, IL10
43imiquimod43 59 28 1211.8TNF, IFNA1, IFNA2, IL10
442,5-oligoadenylate438.8IL10, IFNA1, IFNA2, TNF
45neopterin438.8IL10, TNF, IFNA2, IFNA1
46rituximab43 49 1210.8IFNA2, IFNA1, TNF, IL10
47thalidomide43 49 59 1211.8IFNA2, TNF, IL10, IFNA1
48prednisolone43 28 1210.8IL10, IFNA2, IFNA1, TNF
49thymidine43 249.8IL10, IFNA2, IFNA1, TNF
50vegf438.7IFNA1, TNF, IL10, IFNA2

GO Terms for genes affiliated with Panuveitis

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Biological processes related to Panuveitis according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1receptor biosynthetic processGO:00328009.6IL10, TNF
2negative regulation of cytokine secretion involved in immune responseGO:00027409.6IL10, TNF
3negative regulation of growth of symbiont in hostGO:00441309.6IL10, TNF
4negative regulation of interleukin-6 productionGO:00327159.5TNF, IL10
5positive regulation of cytokine secretionGO:00507159.5TNF, IL10
6response to activityGO:00148239.4IL10, TNF
7positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.3IL10, TNF
8negative regulation of gene expressionGO:00106299.3IFNA2, TNF
9positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.1UACA, TNF
10inflammatory responseGO:00069549.1IL10, IFNA2, TNF
11intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.0TNF, UACA
12response to glucocorticoidGO:00513849.0IL10, TNF

Molecular functions related to Panuveitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051258.9IL10, IFNA2, TNF

Products for genes affiliated with Panuveitis

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Sources for Panuveitis

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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