Aliases & Classifications for Blepharochalasis

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Aliases & Descriptions for Blepharochalasis:

Name: Blepharochalasis 11 13 66

Classifications:



External Ids:

Disease Ontology11 DOID:348
ICD1028 H02.3
ICD9CM30 374.34

Summaries for Blepharochalasis

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Disease Ontology:11 An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.

MalaCards based summary: Blepharochalasis is related to blepharochalasis and double lip and amyoplasia mandibulofacial dysostosis, and has symptoms including retraction of eyelid, lid, lash and lacrimal structural disorders and eyelids (symptom). An important gene associated with Blepharochalasis is GSN (Gelsolin), and among its related pathways are Osteopontin-mediated events and Cell adhesion_ECM remodeling. Affiliated tissues include skin, eye and neutrophil, and related mouse phenotypes are homeostasis/metabolism and immune system.

Wikipedia:69 Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions... more...

Related Diseases for Blepharochalasis

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1blepharochalasis and double lip12.1
2amyoplasia mandibulofacial dysostosis10.6GSN, TTR
3lethal congenital contracture syndrome 110.5GSN, TTR
4hypervitaminosis d10.5CD79A, TTR
5alopecia-mental retardation syndrome 310.5GSN, TTR
6hematocele of tunica vaginalis testis10.5CD79A, TTR
7hypotrichosis 610.5GSN, TTR
8bone lymphoma10.5CD79A, TTR
9adhesions of uterus10.4CD68, OSMR
10clivus chordoma10.4CD68, CD79A
11balantidiasis10.4CD79A, TTR
12microcystic meningioma10.4CD68, CD79A
13urinary bladder posterior wall cancer10.4CD79A, TTR
14aniseikonia10.4CD68, CD79A
15pancreatic vasoactive intestinal peptide producing tumor10.4CD79A, TTR
16granular cell tumor10.4CD68, CD79A
17tetanus10.3CD68, CD79A
18spastic entropion10.3CD79A, TTR
19brain stem ependymoma10.3CD68, TTR
20extrahepatic cholestasis10.3CD79A, TTR
21diabetic cataract10.3CD79A, MMP9
22yellow fever10.3CD68, CD79A
23polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.3GSN, TTR
24peripheral focal chorioretinitis10.3CD68, CD79A
25sialadenitis10.3CD79A, MMP9
26chemical colitis10.3CD79A, MMP9
27meibomian cyst10.2CD79A, MMP9
28squamous cell papilloma10.2CD79A, GSN, TTR
29histidine metabolism disease10.2CD79A, MMP9
30rhizomelic dysplasia, scoliosis, and retinitis pigmentosa10.2MMP3, MMP9
31pathological gambling10.2MMP3, MMP9
32pineal region yolk sac tumor10.2MMP3, MMP9
33integumentary system cancer10.2CD79A, MMP9
34sternum lymphoma10.2CD79A, MMP3
35immunodeficiency 27b, mycobacteriosis, ad10.1MMP3, MMP9
36afibrinogenemia, congenital10.1GSN, SAA1, TTR
37juvenile astrocytoma10.1MMP3, MMP9
38limb reduction defect10.1CD68, MMP9
39spindle epithelial tumor with thymus-like differentiation tumor10.1CD68, MMP9
40psoriasis susceptibility 110.1CD79A, MMP3
41ptosis10.1
42retinal degeneration10.1MMP3, MMP9
43nervous system cancer10.1CD79A, MMP9
44ethmoid sinus cancer10.1CD68, MMP9
45schwannomatosis10.1MMP3, MMP9
46chorioretinitis10.1MMP3, MMP9
47accommodative esotropia10.0LAX1, TTR
48angioedema10.0
49gallbladder papillary carcinoma10.0CD68, MMP9
50vertebral artery occlusion10.0MMP3, MMP9

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to blepharochalasis

Symptoms for Blepharochalasis

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UMLS symptoms related to Blepharochalasis:


retraction of eyelid, lid, lash and lacrimal structural disorders, eyelids (symptom), eyelid skin dryness, lacrimal punctum enlarged, eyelash injury

Drugs & Therapeutics for Blepharochalasis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Astigmatic Changes Secondary to Eyelid SurgeriesRecruitingNCT01968174
2Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface SurgeriesNot yet recruitingNCT02638610
3Levator Muscle Strength EvaluationNot yet recruitingNCT02226016

Search NIH Clinical Center for Blepharochalasis

Genetic Tests for Blepharochalasis

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Anatomical Context for Blepharochalasis

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MalaCards organs/tissues related to Blepharochalasis:

34
Skin, Eye, Neutrophil

Animal Models for Blepharochalasis or affiliated genes

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MGI Mouse Phenotypes related to Blepharochalasis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4CD79A, GSN, MMP3, MMP9, OSMR, SAA1
2MP:00053877.2CD68, CD79A, GSN, LAX1, MMP3, MMP9
3MP:00053976.9CD68, CD79A, GSN, LAX1, MMP3, MMP9

Publications for Blepharochalasis

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Articles related to Blepharochalasis:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Blepharochalasis with double lip: A case of Ascher syndrome. (26515861)
2015
2
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. (25569415)
2015
3
Blepharochalasis with double lip: A case of Ascher syndrome. (26087089)
2015
4
Unilateral blepharochalasis of right eye. (25284875)
2014
5
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. (25292259)
2014
6
Langerhans cell disease of the eyelids masquerading as blepharochalasis. (24224501)
2014
7
Acute episode of eyelid oedema. Blepharochalasis. (22467940)
2012
8
Transcutaneous blepharoplasty in blepharochalasis. (23378713)
2012
9
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. (21946773)
2012
10
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. (20136468)
2010
11
Blepharochalasis. (19293520)
2009
12
Successful medical treatment of blepharochalasis: a case series. (19874128)
2009
13
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. (19380685)
2009
14
Blepharochalasis--a rare entity. (18319025)
2008
15
Oral acetazolamide: A treatment option for blepharochalasis? (19668490)
2007
16
Elastin gene expression in blepharochalasis. (15841657)
2005
17
Bilateral blepharochalasis. (16268879)
2005
18
Lacrimal gland prolapse in blepharochalasis. (15069442)
2004
19
Blepharochalasis misdiagnosed as allergic recurrent angioedema. (14616136)
2003
20
Unilateral blepharochalasis. (12859930)
2003
21
Blepharochalasis. (17656947)
2002
22
Blepharochalasis. (17664751)
2001
23
Bilateral eyelid edema: cutis laxa or blepharochalasis? (11092366)
2000
24
Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis. (8977684)
1996
25
Blepharochalasis. (20952919)
1995
26
Localised unilateral blepharochalasis. (7848988)
1994
27
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. (1598975)
1992
28
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. (1555128)
1992
29
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. (2178883)
1990
30
The Blepharochalasis syndrome. (2244849)
1990
31
Blepharochalasis and dermatochalasis. (3183270)
1988
32
Blepharochalasis. (3207663)
1988
33
Unilateral blepharochalasis. (3658315)
1987
34
Floppy eyelid syndrome and blepharochalasis. (3752204)
1986
35
Blepharochalasis syndrome. (3985080)
1985
36
Blepharochalasis with multiple system involvement. (6743619)
1984
37
Blepharochalasis--a case report. (6545239)
1984
38
Blepharochalasis after a bee sting. (6718584)
1984
39
Blepharochalasis. (476029)
1979
40
Unilateral blepharochalasis. (434876)
1979
41
Dermatochalasis and blepharochalasis of the upper lids. (724217)
1978
42
Self-induced blepharochalasis in a case of facial palsy. (924618)
1977
43
The history of blepharoplasty to correct blepharochalasis. (24173743)
1976
44
Blepharochalasis. (4824166)
1974
45
Double lip and double lip with blepharochalasis (Ascher's syndrome). (4507440)
1972
46
Refraction in marked ptosis and blepharochalasis. (13560731)
1958
47
Blepharochalasis in upper eyelids; including its classification. (13424625)
1957
48
Correction of senile atrophy of eyelid and blepharochalasis. (13200538)
1954
49
Blepharochalasis. (14877956)
1951
50
Blepharochalasis (Ptosis adiposa). (19974024)
1909

Variations for Blepharochalasis

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Expression for genes affiliated with Blepharochalasis

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Search GEO for disease gene expression data for Blepharochalasis.

Pathways for genes affiliated with Blepharochalasis

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Pathways related to Blepharochalasis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5GSN, MMP9
29.3MMP3, MMP9
39.3MMP3, MMP9

GO Terms for genes affiliated with Blepharochalasis

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Cellular components related to Blepharochalasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.1GSN, MMP3, MMP9, SAA1, TTR
2extracellular regionGO:00055767.8GSN, MMP3, MMP9, SAA1, TTR

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.4MMP3, MMP9
2cellular protein metabolic processGO:00442679.3GSN, SAA1, TTR
3B cell activationGO:00421139.2CD79A, LAX1
4extracellular matrix disassemblyGO:00226178.7GSN, MMP3, MMP9

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:00041759.3MMP3, MMP9

Sources for Blepharochalasis

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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