MCID: BLP001
MIFTS: 34

Blepharochalasis malady

Category: Eye diseases

Aliases & Classifications for Blepharochalasis

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Aliases & Descriptions for Blepharochalasis:

Name: Blepharochalasis 11 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:348
ICD1030 H02.3
ICD9CM32 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 anaplastic ependymoma. 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 eye, neutrophil and skin, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Wikipedia:71 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 58)
idRelated DiseaseScoreTop Affiliating Genes
1blepharochalasis and double lip12.0
2anaplastic ependymoma10.2GSN, TTR
3arthrogryposis, lethal, with anterior horn cell disease10.2GSN, TTR
4acute female pelvic peritonitis10.2CD79A, TTR
5hereditary lymphedema type ii10.2GSN, TTR
6alopecia-mental retardation syndrome 310.2GSN, TTR
7male genital organ stricture10.2CD79A, TTR
8hypoglossal nerve disease10.2CD68, OSMR
9childhood vagina botryoid rhabdomyosarcoma10.2CD79A, TTR
10tibial adamantinoma10.2CD68, CD79A
11alkhurma hemorrhagic fever10.2CD68, CD79A
12cutaneous ganglioneuroma10.2CD68, CD79A
13ulnar neuropathy10.2CD68, CD79A
14anaplastic ganglioglioma10.1SAA1, TTR
15pneumocystosis10.1CD68, CD79A
16toxic optic neuropathy10.1CD79A, MMP9
17viral meningitis10.1CD79A, MMP9
18diversion colitis10.1CD79A, MMP9
19spastic entropion10.1CD79A, TTR
20bladder sarcoma10.1CD79A, TTR
21isthmus cancer10.1CD79A, MMP9
22pediculus humanus corporis infestation10.1CD68, TTR
23white piedra10.1CD79A, GSN, TTR
24rosacea conjunctivitis10.1CD68, CD79A
25right atrium familial dilatation10.1MMP3, MMP9
26kleptomania10.1MMP3, MMP9
27central nervous system adult germ cell tumor10.1MMP3, MMP9
28van maldergem syndrome 210.1GSN, SAA1, TTR
29omsk hemorrhagic fever10.1CD79A, MMP9
30cystic lymphangioma10.1MMP3, MMP9
31chondrodysplasia punctata, rhizomelic, type 110.1MMP3, MMP9
32chronic erythremia10.1CD68, CD79A
33linear porokeratosis10.1CD68, MMP9
34schwannomatosis10.0MMP3, MMP9
35striated muscle rhabdoid tumor10.0CD68, MMP9
36retinal artery occlusion10.0MMP3, MMP9
37polyneuropathy in collagen vascular disease10.0CD68, MMP9
38entropion10.0CD79A, TTR
39penis agenesis10.0GSN, MMP9, TTR
40lingual-facial-buccal dyskinesia10.0LAX1, TTR
41stenosis of lacrimal sac10.0CD79A, MMP9
42ptosis10.0
43tinea profunda10.0LAX1, MMP9
44pituitary infarct9.9MMP3, MMP9
45histiocytosis9.9CD79A, MMP3, MMP9
46paranasal sinus sarcoma9.9CD79A, TTR
47hard palate cancer9.9GSN, OSMR, SAA1, TTR
48chordoid meningioma9.9MMP3, MMP9
49angioedema9.9
50autoimmune-related retinopathy and optic neuropathy9.9MMP3, MMP9, SAA1

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to blepharochalasis

Symptoms & Phenotypes for Blepharochalasis

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MGI Mouse Phenotypes related to Blepharochalasis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2CD79A, GSN, MMP3, MMP9, OSMR, SAA1
2MP:00053977.8CD68, CD79A, GSN, LAX1, MMP3, MMP9
3MP:00053876.9CD68, CD79A, GSN, LAX1, MMP3, MMP9

Drugs & Therapeutics for Blepharochalasis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Astigmatic Changes Secondary to Eyelid SurgeriesUnknown statusNCT01968174
2Levator Muscle Strength EvaluationUnknown statusNCT02226016
3Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface SurgeriesNot yet recruitingNCT02638610

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:

36
Eye, Neutrophil, Skin

Publications for Blepharochalasis

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Articles related to Blepharochalasis:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Blepharochalasis: something to cry about. (27718529)
2016
2
Blepharochalasis with double lip: A case of Ascher syndrome. (26087089)
2015
3
Blepharochalasis with double lip: A case of Ascher syndrome. (26515861)
2015
4
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. (25569415)
2015
5
Langerhans cell disease of the eyelids masquerading as blepharochalasis. (24224501)
2014
6
Blepharochalasis: possibly associated with matrix metalloproteinases. (24815765)
2014
7
Unilateral blepharochalasis of right eye. (25284875)
2014
8
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. (25292259)
2014
9
Lacrimal gland prolapse in two cases of blepharochalasis syndrome and its treatment. (23543253)
2013
10
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. (21946773)
2012
11
Infraeyebrow blepharoplasty for blepharochalasis of the upper eyelid: its indication and priority. (22570783)
2012
12
Acute episode of eyelid oedema. Blepharochalasis. (22467940)
2012
13
Transcutaneous blepharoplasty in blepharochalasis. (23378713)
2012
14
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. (20136468)
2010
15
The blepharochalasis syndrome. (19298902)
2009
16
Blepharochalasis. (19293520)
2009
17
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. (19380685)
2009
18
Successful medical treatment of blepharochalasis: a case series. (19874128)
2009
19
Blepharochalasis--a rare entity. (18319025)
2008
20
Oral acetazolamide: A treatment option for blepharochalasis? (19668490)
2007
21
Bilateral blepharochalasis. (16268879)
2005
22
Elastin gene expression in blepharochalasis. (15841657)
2005
23
Lacrimal gland prolapse in blepharochalasis. (15069442)
2004
24
Blepharochalasis misdiagnosed as allergic recurrent angioedema. (14616136)
2003
25
Unilateral blepharochalasis. (12859930)
2003
26
Blepharochalasis. (17656947)
2002
27
Blepharochalasis. (17664751)
2001
28
Bilateral eyelid edema: cutis laxa or blepharochalasis? (11092366)
2000
29
Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis. (8977684)
1996
30
Blepharochalasis. (20952919)
1995
31
Localised unilateral blepharochalasis. (7848988)
1994
32
Mental retardation, microcephaly and blepharochalasis in brothers. (8055132)
1994
33
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. (1555128)
1992
34
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. (1598975)
1992
35
Blepharochalasis. A review of 30 cases. (1911519)
1991
36
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. (2178883)
1990
37
The Blepharochalasis syndrome. (2244849)
1990
38
Blepharochalasis and dermatochalasis. (3183270)
1988
39
Blepharochalasis. (3207663)
1988
40
Unilateral blepharochalasis. (3658315)
1987
41
Floppy eyelid syndrome and blepharochalasis. (3752204)
1986
42
Blepharochalasis syndrome. (3985080)
1985
43
Blepharochalasis after a bee sting. (6718584)
1984
44
Blepharochalasis with multiple system involvement. (6743619)
1984
45
Blepharochalasis--a case report. (6545239)
1984
46
Blepharochalasis. (476029)
1979
47
Unilateral blepharochalasis. (434876)
1979
48
Blepharo-confusion--blepharochalasis or dermatochalasis? (655933)
1978
49
Dermatochalasis and blepharochalasis of the upper lids. (724217)
1978
50
Self-induced blepharochalasis in a case of facial palsy. (924618)
1977

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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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

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to cadmium ionGO:007127610.2GSN, MMP9
2collagen catabolic processGO:003057410.0MMP3, MMP9
3B cell activationGO:004211310.0CD79A, LAX1
4cellular protein metabolic processGO:004426710.0GSN, SAA1, TTR
5extracellular matrix disassemblyGO:00226179.7GSN, MMP3, MMP9
6neutrophil degranulationGO:00433128.6CD68, GSN, MMP9, TTR

Sources for Blepharochalasis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet