MCID: OCL020
MIFTS: 51

Ocular Cicatricial Pemphigoid malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Ocular Cicatricial Pemphigoid

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ocular Cicatricial Pemphigoid:

Name: Ocular Cicatricial Pemphigoid 50 46 48 66
Cicatricial Pemphigoid, Ocular 46
Pemphigoid, Ocular Cicatricial 46
Mucous Membrane Pemphigoid 52
 
Mucosynechial Pemphigoid 52
Cicatricial Pemphigoid 52
Mucosal Pemphigoid 52

Characteristics:

Orphanet epidemiological data:

52
mucous membrane pemphigoid:
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
ocular cicatricial pemphigoid:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 164185
Orphanet52 ORPHA46486
ICD10 via Orphanet29 L12.1

Summaries for Ocular Cicatricial Pemphigoid

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NIH Rare Diseases:46 Ocular cicatricial pemphigoid (ocp) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. in the early stages, people with ocp generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. if left untreated, ocp can progress to severe conjunctiva scarring and vision loss. involvement of other mucosal sites and the skin may also occur in ocp. the exact underlying cause is currently unknown. the treatment of ocp aims to slow disease progression and prevent complications. this usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. last updated: 6/10/2015

MalaCards based summary: Ocular Cicatricial Pemphigoid, also known as cicatricial pemphigoid, ocular, is related to keratoconjunctivitis and rheumatoid arthritis, and has symptoms including autoimmunity, abnormal blistering of the skin and inflammatory abnormality of the eye. An important gene associated with Ocular Cicatricial Pemphigoid is ITGB4 (Integrin Subunit Beta 4), and among its related pathways are Activation of TRKA receptors and IgA-Producing B Cells in the Intestine. Affiliated tissues include eye, skin and neutrophil, and related mouse phenotypes are liver/biliary system and hearing/vestibular/ear.

Description from OMIM:50 164185

Related Diseases for Ocular Cicatricial Pemphigoid

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Diseases related to Ocular Cicatricial Pemphigoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconjunctivitis30.0IL4, RNASE3
2rheumatoid arthritis27.1CD79A, CIITA, CSF1, HLA-DQB1, HLA-DRB1, IL4
3cicatricial pemphigoid11.0
4fruit allergy10.6HLA-DQB1, HLA-DRB1
5wolffian duct adenocarcinoma10.6HLA-DQB1, HLA-DRB1
6peripheral t-cell lymphoma10.6HLA-DQB1, HLA-DRB1, IL4
7lipodermatosclerosis10.6HLA-DQB1, HLA-DRB1, IL4
8quinquaud's decalvans folliculitis10.6HLA-DQB1, HLA-DRB1
9multicentric castleman disease10.6HLA-DQB1, HLA-DRB1, IL4
10fibromatosis, gingival, 110.5CD36, SERPINH1, TGFB1
11parsonage turner syndrome10.5HLA-DQB1, HLA-DRB1, TGFB1
12myopathy-growth delay-intellectual disability-hypospadias syndrome10.5HLA-DQB1, HLA-DRB1, TGFB1
13epidermolysis bullosa, junctional, with pyloric stenosis10.5ITGA6, ITGB4
14benign lymphoepithelial lesion of salivary gland10.5CD79A, IL4, NGF
15esophageal atresia/tracheoesophageal fistula10.5ITGA6, ITGB4
16allergic hypersensitivity disease10.5HLA-DQB1, HLA-DRB1, TNFRSF1B
17spondylosis10.5CD79A, IL4, TNFRSF1B
18mixed lacrimal gland cancer10.4CD79A, HLA-DRB1, IL4
19lymphogranuloma venereum10.4CTGF, TGFB1
20rheumatic myocarditis10.4CD79A, HLA-DQB1, HLA-DRB1
21salt and pepper syndrome10.4CTGF, SERPINH1, TGFB1
22juvenile dermatitis herpetiformis10.4CD79A, HLA-DQB1, IL4
23blood group incompatibility10.4CD79A, IL4, TGFB1
24pseudoainhum10.4NGF, RNASE3
25low compliance bladder10.4IL4, NTRK1, TGFB1
26pediatric systemic lupus erythematosus10.4HLA-DQB1, HLA-DRB1
27chronic pulmonary heart disease10.4IL4, NGF, RNASE3
28perianal skin paget's disease10.3CD79A, IL4, TGFB1
29nonspecific interstitial pneumonia10.3CTGF, IL4, TGFB1
30hodgkin's lymphoma, mixed cellularity10.3CD79A, HLA-DRB1, TNFRSF1B
31chronic cystitis10.3CD79A, RNASE3
32blue color blindness10.3CD79A, ITGB4, SERPINH1, TNFRSF1B
33vibrio vulnificus infection10.3IL4, RNASE3, TGFB1
34inflammatory bowel disease 310.3HLA-DRB1, MIF, TNFRSF1B
35lethal midline granuloma10.3HLA-DQB1, HLA-DRB1, IL4, TGFB1
36krieble bixler syndrome10.3HLA-DQB1, HLA-DRB1
37granulomatous orchitis10.3CD36, CTGF, TGFB1
38cataract10.3
39epidemic typhus10.3ACTA2, TGFB1, TGFBR2
40mediastinum seminoma10.3CD79A, IL4, TGFBR2
41sternum lymphoma10.3CD79A, HLA-DRB1, MIF, TNFRSF1B
42churg-strauss syndrome10.3IL4, RNASE3, TGFB1
43lymphocytic colitis10.3CD79A, HLA-DQB1, HLA-DRB1, IL4
44ectopia lentis, familial10.2ACTA2, TGFB1, TGFBR2
45gilbert syndrome10.2CD79A, ITGA6, ITGB4
46entropion10.2
47apple allergy10.2CD79A, IL4, RNASE3
48blind hypotensive eye10.2IL4, RNASE3, TGFB1
49gait apraxia10.2CD79A, IL4, RNASE3
50vaginitis10.2CD79A, IL4, RNASE3

Graphical network of the top 20 diseases related to Ocular Cicatricial Pemphigoid:



Diseases related to ocular cicatricial pemphigoid

Symptoms for Ocular Cicatricial Pemphigoid

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Symptoms by clinical synopsis from OMIM:

164185

Clinical features from OMIM:

164185

Symptoms:

 52 (show all 7)
  • gingivitis
  • blindness
  • atypical scarring of skin
  • autoimmunity
  • corneal opacity
  • abnormal blistering of the skin
  • oral mucosal blisters

HPO human phenotypes related to Ocular Cicatricial Pemphigoid:

(show all 9)
id Description Frequency HPO Source Accession
1 autoimmunity hallmark (90%) HP:0002960
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 inflammatory abnormality of the eye hallmark (90%) HP:0100533
4 abnormality of reproductive system physiology typical (50%) HP:0000080
5 gingivitis typical (50%) HP:0000230
6 atypical scarring of skin typical (50%) HP:0000987
7 visual impairment occasional (7.5%) HP:0000505
8 opacification of the corneal stroma occasional (7.5%) HP:0007759
9 abnormality of the eye HP:0000478

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

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Drugs for Ocular Cicatricial Pemphigoid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabPhase 1, Phase 21611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
infliximabPhase 1, Phase 2364170277-31-3
Synonyms:
 
Ig gamma-1 chain C region
Remicade
3
RiboflavinNutraceuticalPhase 1, Phase 215883-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
4
Folic AcidNutraceuticalPhase 1, Phase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
5FolateNutraceuticalPhase 1, Phase 24143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial Evaluating Rituximab in Ocular Cicatricial PemphigoidCompletedNCT00584935Phase 1, Phase 2
2Use of Cross-linked Donor Corneas as Carriers for the Boston KeratoprosthesisRecruitingNCT01582880Phase 1, Phase 2
3Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialRecruitingNCT02318485Phase 2
4Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet TransplantationAvailableNCT02149732Phase 1, Phase 2
5Topical Infliximab in Autoimmune Eyes With KeratoprosthesisEnrolling by invitationNCT02126020Phase 1, Phase 2
6The Improvement of Limbal Epithelial Culture Technique by Using Collagenase to Isolate Limbal Stem CellsRecruitingNCT02202642Phase 1
7Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory ConditionsWithdrawnNCT02042027Phase 1
8Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort StudyCompletedNCT00116090
9Immune Responses to Antigens in Non-infectious Eye Inflammatory DiseasesEnrolling by invitationNCT00357071

Search NIH Clinical Center for Ocular Cicatricial Pemphigoid

Genetic Tests for Ocular Cicatricial Pemphigoid

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Anatomical Context for Ocular Cicatricial Pemphigoid

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MalaCards organs/tissues related to Ocular Cicatricial Pemphigoid:

34
Eye, Skin, Neutrophil, Testes, T cells

Animal Models for Ocular Cicatricial Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Ocular Cicatricial Pemphigoid:

39 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8CD36, CSF1, HLA-DQB1, IL4, TGFB1, TGFBR2
2MP:00053778.8CSF1, CTGF, ITGA6, ITGB4, MIF, NTRK1
3MP:00053698.1ACTA2, CD36, CSF1, HLA-DQB1, NGF, NTRK1
4MP:00107718.0CSF1, CTGF, IL4, ITGA6, ITGB4, NGF
5MP:00053677.8CD36, CD79A, HLA-DQB1, IL4, ITGA6, ITGB4
6MP:00053827.8CSF1, CTGF, IL4, ITGA6, ITGB4, SERPINH1
7MP:00028737.6CD79A, CIITA, CTGF, HLA-DQB1, IL4, MIF
8MP:00053907.4CD36, CIITA, CSF1, CTGF, IL4, SERPINH1
9MP:00053817.3CD36, CTGF, HLA-DQB1, IL4, ITGA6, ITGB4
10MP:00053797.0CD36, CIITA, CSF1, HLA-DQB1, IL4, ITGA6
11MP:00053886.8CSF1, CTGF, HLA-DQB1, IL4, ITGA6, ITGB4
12MP:00053846.7CD36, CD79A, CSF1, CTGF, HLA-DQB1, IL4
13MP:00053916.6ACTA2, CD36, CSF1, CTGF, IL4, ITGA6
14MP:00053856.5ACTA2, CD36, CSF1, CTGF, HLA-DQB1, ITGA6
15MP:00107686.4CD36, CSF1, CTGF, HLA-DQB1, IL4, ITGA6
16MP:00036316.3CD36, CD79A, CSF1, HLA-DQB1, IL4, ITGA6
17MP:00053786.1CD36, CSF1, CTGF, HLA-DQB1, IL4, ITGA6
18MP:00053765.9CD36, CD79A, CIITA, CSF1, CTGF, HLA-DQB1
19MP:00053975.9CD36, CD79A, CIITA, CSF1, HLA-DQB1, IL4
20MP:00053875.8CD36, CD79A, CIITA, CSF1, HLA-DQB1, IL4

Publications for Ocular Cicatricial Pemphigoid

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Articles related to Ocular Cicatricial Pemphigoid:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. (27275431)
2016
2
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. (26632795)
2015
3
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. (23269857)
2012
4
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. (21552176)
2011
5
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. (20635815)
2010
6
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. (19770718)
2009
7
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. (19641634)
2009
8
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. (18724167)
2008
9
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. (18356734)
2008
10
In vivo confocal microscopy of ocular cicatricial pemphigoid. (16583645)
2006
11
Ocular cicatricial pemphigoid, keratomycosis, and intravenous immunoglobulin therapy. (15502484)
2004
12
Blood group related antigens in ocular cicatricial pemphigoid. (15377543)
2004
13
Role of macrophage migration inhibitory factor in conjunctival pathology in ocular cicatricial pemphigoid. (15037585)
2004
14
Human mast cell subtypes in conjunctiva of patients with atopic keratoconjunctivitis, ocular cicatricial pemphigoid and Stevens-Johnson syndrome. (14566647)
2003
15
Role of connective tissue growth factor in the pathogenesis of conjunctival scarring in ocular cicatricial pemphigoid. (12714635)
2003
16
Role of amniotic membrane transplantation for conjunctival reconstruction in ocular-cicatricial pemphigoid. (12623807)
2003
17
Ocular cicatricial pemphigoid. (12568651)
2003
18
Role of collagen-binding heat shock protein 47 and transforming growth factor-beta1 in conjunctival scarring in ocular cicatricial pemphigoid. (12657600)
2003
19
Identification of ocular cicatricial pemphigoid antibody binding site(s) in human beta4 integrin. (11157870)
2001
20
The autoantibodies to alpha 6 beta 4 integrin of patients affected by ocular cicatricial pemphigoid recognize predominantly epitopes within the large cytoplasmic domain of human beta 4. (10946315)
2000
21
Linear IgA dermatosis mimicking ocular cicatricial pemphigoid. (10555732)
1999
22
The role of antibody to human beta4 integrin in conjunctival basement membrane separation: possible in vitro model for ocular cicatricial pemphigoid. (10476794)
1999
23
Treatment of ocular cicatricial pemphigoid with intravenous gammaglobulin. (9689316)
1998
24
Ocular cicatricial pemphigoid: case report. (9553330)
1998
25
Immunohistopathologic testing in patients suspected of ocular cicatricial pemphigoid. (9723998)
1998
26
Conjunctival scarring after eyelid surgery as first sign of ocular cicatricial pemphigoid. (9076789)
1997
27
Ocular cicatricial pemphigoid and ocular manifestations of pemphigus vulgaris. (9269598)
1997
28
Conjunctival fibrosis in ocular cicatricial pemphigoid--the role of cytokines. (9268585)
1997
29
Progression of disease in ocular cicatricial pemphigoid. (8703876)
1996
30
Local interferon alfa-2b for ocular cicatricial pemphigoid. (8976708)
1996
31
Surgical reconstruction of the ocular surface in advanced ocular cicatricial pemphigoid and Stevens-Johnson syndrome. (8909229)
1996
32
Ocular cicatricial pemphigoid. A case report of monozygotic twins discordant for the disease. (7864752)
1995
33
Inferior retractor plication surgery for lower lid entropion with trichiasis in ocular cicatricial pemphigoid. (8534641)
1995
34
Giant dacryops in a patient with ocular cicatricial pemphigoid. (8534655)
1995
35
The immunological features and pathophysiology of ocular cicatricial pemphigoid. (7958021)
1994
36
Dapsone-induced neutropenia in patients treated for ocular cicatricial pemphigoid. (7800360)
1994
37
Retractor plication for lower lid entropion in ocular cicatricial pemphigoid. (8333940)
1993
38
Identification of a basement membrane zone antigen reactive with circulating IgA antibody in ocular cicatricial pemphigoid. (8409534)
1993
39
Long-term results of mucous membrane grafting in ocular cicatricial pemphigoid. Implications for patient selection and surgical considerations. (8371912)
1993
40
Detection and partial characterization of ocular cicatricial pemphigoid antigens on COLO and SCaBER tumor cell lines. (8222735)
1993
41
Results of buccal mucosal grafting for patients with medically controlled ocular cicatricial pemphigoid. (1565450)
1992
42
Ocular cicatricial pemphigoid in a twelve-year-old boy. (1424661)
1992
43
Ocular cicatricial pemphigoid. (2202335)
1990
44
Association of HLA-DR4 with ocular cicatricial pemphigoid. (2653736)
1989
45
Immunofluorescent studies in ocular cicatricial pemphigoid. (3280001)
1988
46
Ocular cicatricial pemphigoid with granular IgA and complement deposition. (3904684)
1985
47
Ocular cicatricial pemphigoid associated with hyperproliferation of the conjunctival epithelium. (6377902)
1984
48
Immunosuppressive therapy for progressive ocular cicatricial pemphigoid. (7048180)
1982
49
Enigma of ocular cicatricial pemphigoid. A comparative study of clinical and immunological findings. (398602)
1979
50
HLA antigens in ocular cicatricial pemphigoid. (369492)
1979

Variations for Ocular Cicatricial Pemphigoid

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Expression for genes affiliated with Ocular Cicatricial Pemphigoid

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Search GEO for disease gene expression data for Ocular Cicatricial Pemphigoid.

Pathways for genes affiliated with Ocular Cicatricial Pemphigoid

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Pathways related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 25)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0NGF, NTRK1
29.7CD36, IL4, TGFB1
39.6IL4, TGFB1, TGFBR2
49.4CSF1, HLA-DRB1, IL4, TGFB1
59.3CTGF, TGFB1, TGFBR2
69.3CSF1, HLA-DQB1, HLA-DRB1, TGFB1
79.3CD36, CD79A, CSF1, IL4
89.2HLA-DQB1, HLA-DRB1, TGFB1, TGFBR2
9
Show member pathways
9.2ITGA6, ITGB4, TGFB1
10
Show member pathways
9.1CD79A, HLA-DQB1, HLA-DRB1, IL4, TNFRSF1B
119.1CIITA, HLA-DQB1, HLA-DRB1, TGFB1
128.6CSF1, IL4, ITGA6, ITGB4, NGF
13
Show member pathways
8.6CTGF, IL4, NGF, TGFB1, TGFBR2, TNFRSF1B
148.6CD36, CSF1, HLA-DRB1, IL4, ITGA6
15
Show member pathways
8.5ACTA2, HLA-DQB1, HLA-DRB1, ITGA6, ITGB4, NTRK1
168.3CTGF, ITGA6, ITGB4, NGF, NTRK1, TGFB1
17
Show member pathways
8.3ACTA2, ITGA6, ITGB4, NTRK1, TGFB1, TGFBR2
18
Show member pathways
8.0CIITA, HLA-DQB1, HLA-DRB1, IL4, ITGA6, TGFB1
19
Show member pathways
7.8CIITA, HLA-DQB1, HLA-DRB1, IL4, PRG2, RNASE3
20
Show member pathways
7.8ACTA2, CSF1, CTGF, IL4, NGF, NTRK1
21
Show member pathways
7.4CTGF, IL4, ITGA6, ITGB4, NGF, NTRK1
22
Show member pathways
7.2ACTA2, CSF1, CTGF, IL4, ITGA6, ITGB4
23
Show member pathways
7.2ACTA2, CD79A, CTGF, ITGA6, ITGB4, NGF
24
Show member pathways
6.7ACTA2, CD79A, CTGF, HLA-DQB1, HLA-DRB1, ITGA6
25
Show member pathways
6.2ACTA2, CSF1, CTGF, IL4, ITGA6, ITGB4

GO Terms for genes affiliated with Ocular Cicatricial Pemphigoid

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Cellular components related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:003005610.1ITGA6, ITGB4
2endocytic vesicle membraneGO:003066610.1CD36, HLA-DQB1, HLA-DRB1
3membrane raftGO:00451219.3CD36, CD79A, SERPINH1, TGFBR2, TNFRSF1B
4external side of plasma membraneGO:00098978.8CD36, CD79A, IL4, ITGA6, TGFBR2
5extracellular spaceGO:00056157.9ACTA2, CD36, CSF1, CTGF, IL4, MIF
6cell surfaceGO:00099867.3CD36, CIITA, HLA-DRB1, ITGA6, ITGB4, MIF
7plasma membraneGO:00058866.3CD36, CD79A, CSF1, CTGF, HLA-DQB1, HLA-DRB1

Biological processes related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mononuclear cell migrationGO:007167710.7IL4, TGFB1
2pathway-restricted SMAD protein phosphorylationGO:006038910.4TGFB1, TGFBR2
3common-partner SMAD protein phosphorylationGO:000718210.4TGFB1, TGFBR2
4response to cholesterolGO:007072310.4TGFB1, TGFBR2
5positive regulation of MHC class II biosynthetic processGO:004534810.3CIITA, IL4
6nail developmentGO:003587810.2ITGA6, ITGB4
7B cell differentiationGO:003018310.1CD79A, IL4, NTRK1
8response to woundingGO:000961110.1CTGF, ITGB4, TGFB1
9hemidesmosome assemblyGO:003158110.1ITGA6, ITGB4
10cellular response to growth factor stimulusGO:007136310.1NTRK1, TGFB1, TNFRSF1B
11positive regulation of Ras protein signal transductionGO:004657910.0CSF1, NGF, NTRK1
12myeloid dendritic cell differentiationGO:00430119.9IL4, TGFB1, TGFBR2
13positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9CD36, IL4, MIF, TGFB1
14interferon-gamma-mediated signaling pathwayGO:00603339.9CIITA, HLA-DQB1, HLA-DRB1
15amelogenesisGO:00971869.9ITGA6, ITGB4
16response to glucoseGO:00097499.9CTGF, TGFB1, TGFBR2
17positive regulation of protein phosphorylationGO:00019349.6CTGF, IL4, MIF, NTRK1, TGFB1
18negative regulation of gene expressionGO:00106299.6CD36, CTGF, MIF, TGFB1
19regulation of cell proliferationGO:00421279.5MIF, TGFB1, TGFBR2, TNFRSF1B
20response to organic cyclic compoundGO:00140709.5CTGF, IL4, TGFB1, TGFBR2
21digestive tract developmentGO:00485659.2ITGA6, ITGB4, TGFB1, TGFBR2
22inflammatory responseGO:00069549.1CIITA, CSF1, MIF, TGFB1, TNFRSF1B
23positive regulation of gene expressionGO:00106289.0ACTA2, CSF1, CTGF, NGF, TGFB1
24positive regulation of ERK1 and ERK2 cascadeGO:00703749.0CD36, CTGF, MIF, NTRK1
25integrin-mediated signaling pathwayGO:00072299.0CTGF, ITGA6, ITGB4
26positive regulation of cell proliferationGO:00082848.8CSF1, CTGF, IL4, TGFB1, TGFBR2
27agingGO:00075688.4CIITA, CTGF, NTRK1, TGFB1, TGFBR2, TNFRSF1B
28immune responseGO:00069558.2CD36, CIITA, HLA-DQB1, IL4, PRG2, TNFRSF1B

Molecular functions related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1type I transforming growth factor beta receptor bindingGO:003471310.3TGFB1, TGFBR2
2neuregulin bindingGO:003813210.0ITGA6, ITGB4
3insulin-like growth factor I bindingGO:003199410.0ITGA6, ITGB4
4cytokine activityGO:00051259.1CSF1, IL4, MIF, TGFB1
5growth factor activityGO:00080839.0CSF1, CTGF, IL4, NGF, TGFB1

Sources for Ocular Cicatricial Pemphigoid

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet