Aliases & Classifications for Blepharochalasis

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Aliases & Descriptions for Blepharochalasis:

Name: Blepharochalasis 10 12 65
 
Pseudoptosis 10 65


Classifications:



External Ids:

Disease Ontology10 DOID:348
ICD9CM29 374.34
ICD1027 H02.3

Summaries for Blepharochalasis

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Wikipedia:68 Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions... more...

MalaCards based summary: Blepharochalasis, also known as pseudoptosis, is related to ascher syndrome and ptosis. An important gene associated with Blepharochalasis is GSN (Gelsolin), and among its related pathways are Osteopontin-mediated events and Cell adhesion_Cell-matrix glycoconjugates. Affiliated tissues include eye, skin and neutrophil, and related mouse phenotypes are homeostasis/metabolism and immune system.

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 81)
idRelated DiseaseScoreTop Affiliating Genes
1ascher syndrome10.5
2ptosis10.3
3amyloidosis aa10.3GSN, TTR
4amyloidosis, finnish type10.3GSN, TTR
5uvula cancer10.2CD79A, TTR
6hereditary antithrombin deficiency10.2GSN, TTR
7carpal tunnel syndrome, familial10.2GSN, TTR
8gastrin secretion abnormality10.2CD79A, TTR
9angioedema10.2
10q fever10.2CD68, OSMR
11amyloidosis beta2m10.2SAA1, TTR
12cryoglobulinemia, familial mixed10.2CD79A, FN1
13mucinous tubular and spindle renal cell carcinoma10.2CD79A, FN1
14lymphoepithelioma-like thymic carcinoma10.2CD68, CD79A
15conjunctival disease10.2CD68, TTR
16typhoid fever10.2CD79A, FN1
17pediatric meningioma10.2CD68, CD79A
18dysgammaglobulinemia10.2CD79A, TTR
19compensatory emphysema10.2CD68, CD79A
20vaginal glandular tumor10.1CD79A, FN1
21primary syphilis10.1CD79A, FN1
22internal auditory canal meningioma10.1CD68, SAA1
23diabetic cataract10.1CD79A, MMP9
24pseudohermaphroditism10.1CD79A, TTR
25autoimmune disease of the nervous system10.1CD79A, FN1
26rete ovarii cystadenofibroma10.1CD68, TTR
27paralytic lagophthalmos10.1CD79A, MMP9
28polyradiculoneuropathy10.1CD79A, GSN, TTR
29monocular exotropia10.1CD68, CD79A
30peripheral nervous system neoplasm10.1CD79A, TTR
31laryngotracheitis10.1CD68, CD79A
32endocervical carcinoma10.1CD79A, FN1
33t cell deficiency10.1CD79A, FN1
34septic myocarditis10.1CD68, FN1
35rheumatoid vasculitis10.1MMP3, MMP9
36amyloidosis, familial visceral10.1GSN, SAA1, TTR
37upper respiratory tract disease10.1CD68, CD79A
38retinal drusen10.1MMP3, MMP9
39cryptococcosis10.1CD68, FN1
40ovary transitional cell carcinoma10.1MMP3, MMP9
41cataract10.1
42coloboma10.1
43hypotropia10.1
44myopia10.1
45tularemia10.1
46silent sinus syndrome10.1
47adult brain stem glioma10.1MMP3, MMP9
48acute pancreatitis10.1CD79A, FN1
49krukenberg carcinoma10.1CD68, FN1
50infiltrating angiolipoma10.1FN1, MMP9

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to blepharochalasis

Symptoms for Blepharochalasis

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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:

33
Eye, Skin, Neutrophil

Animal Models for Blepharochalasis or affiliated genes

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MGI Mouse Phenotypes related to Blepharochalasis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3CD79A, FN1, GSN, MMP3, MMP9, SAA1
2MP:00053876.6CD68, CD79A, FN1, GSN, LAX1, MMP3
3MP:00053976.6CD68, CD79A, FN1, GSN, LAX1, MMP3

Publications for Blepharochalasis

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Articles related to Blepharochalasis:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. (25569415)
2015
2
Blepharochalasis with double lip: A case of Ascher syndrome. (26515861)
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
Blepharochalasis: possibly associated with matrix metalloproteinases. (24815765)
2014
8
Transcutaneous blepharoplasty in blepharochalasis. (23378713)
2012
9
Acute episode of eyelid oedema. Blepharochalasis. (22467940)
2012
10
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. (21946773)
2012
11
Successful medical treatment of blepharochalasis: a case series. (19874128)
2009
12
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. (19380685)
2009
13
The blepharochalasis syndrome. (19298902)
2009
14
Blepharochalasis. (19293520)
2009
15
Blepharochalasis--a rare entity. (18319025)
2008
16
Oral acetazolamide: A treatment option for blepharochalasis? (19668490)
2007
17
Bilateral blepharochalasis. (16268879)
2005
18
Elastin gene expression in blepharochalasis. (15841657)
2005
19
Lacrimal gland prolapse in blepharochalasis. (15069442)
2004
20
Blepharochalasis misdiagnosed as allergic recurrent angioedema. (14616136)
2003
21
Unilateral blepharochalasis. (12859930)
2003
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
Mental retardation, microcephaly and blepharochalasis in brothers. (8055132)
1994
28
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. (1598975)
1992
29
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. (1555128)
1992
30
Blepharochalasis. A review of 30 cases. (1911519)
1991
31
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. (2178883)
1990
32
The Blepharochalasis syndrome. (2244849)
1990
33
Blepharochalasis and dermatochalasis. (3183270)
1988
34
Blepharochalasis. (3207663)
1988
35
Unilateral blepharochalasis. (3658315)
1987
36
Floppy eyelid syndrome and blepharochalasis. (3752204)
1986
37
Blepharochalasis after a bee sting. (6718584)
1984
38
Blepharochalasis with multiple system involvement. (6743619)
1984
39
Blepharochalasis--a case report. (6545239)
1984
40
Dermatochalasis and blepharochalasis of the upper lids. (724217)
1978
41
Blepharo-confusion--blepharochalasis or dermatochalasis? (655933)
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
Some data on the pathogenesis of blepharochalasis. (13984904)
1963
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 pathways (with members indented)ScoreTop Affiliating Genes
19.6GSN, MMP9
29.4MMP3, MMP9
39.3FN1, MMP9
49.3FN1, MMP9
58.9FN1, MMP3, MMP9
6
Show member pathways
8.5FN1, MMP3, MMP9, TTR

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
1proteinaceous extracellular matrixGO:00055789.0FN1, MMP3, MMP9
2extracellular matrixGO:00310128.8FN1, MMP3, MMP9
3extracellular spaceGO:00056157.8FN1, GSN, MMP3, MMP9, SAA1, TTR
4extracellular regionGO:00055767.5FN1, GSN, MMP3, MMP9, SAA1, TTR

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

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.0FN1, SAA1
2endodermal cell differentiationGO:00359879.7FN1, MMP9
3B cell activationGO:00421139.7CD79A, LAX1
4extracellular matrix organizationGO:00301988.5FN1, MMP3, MMP9, TTR
5extracellular matrix disassemblyGO:00226178.5FN1, GSN, MMP3, MMP9

Sources for Blepharochalasis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet