MCID: BLP001
MIFTS: 36

Blepharochalasis

Categories: Eye diseases

Aliases & Classifications for Blepharochalasis

MalaCards integrated aliases for Blepharochalasis:

Name: Blepharochalasis 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:348
ICD9CM 36 374.34
SNOMED-CT 69 47704002
ICD10 34 H02.3
UMLS 74 C0005742

Summaries for Blepharochalasis

Disease Ontology : 12 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 blepharochalasis, superior. An important gene associated with Blepharochalasis is GSN (Gelsolin), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. Affiliated tissues include eye, skin and neutrophil, and related phenotypes are homeostasis/metabolism and skeleton

Wikipedia : 77 Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions... more...

Related Diseases for Blepharochalasis

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 blepharochalasis and double lip 12.4
2 blepharochalasis, superior 12.1
3 isolated blepharochalasis 12.1
4 elsahy-waters syndrome 11.3
5 ptosis 10.3
6 amyloidosis, finnish type 10.2 GSN TTR
7 hereditary amyloidosis 10.2 GSN TTR
8 angioedema 10.2
9 cutis laxa 10.2
10 amyloidosis, hereditary, transthyretin-related 10.2 GSN TTR
11 amyloidosis aa 10.1 SAA1 TTR
12 cerebral amyloid angiopathy, cst3-related 10.1 GSN TTR
13 papillary ependymoma 10.1 CD68 TTR
14 acute lymphocytic leukemia 10.0
15 leukemia 10.0
16 dermatomyositis 10.0
17 lymphocytic leukemia 10.0
18 microcephaly 10.0
19 amyloidosis 10.0 GSN SAA1 TTR
20 amyloidosis, familial visceral 10.0 GSN SAA1 TTR
21 polyneuropathy 9.9 GSN TTR
22 synovitis 9.9 CD68 MMP3
23 rheumatoid nodulosis 9.9 MMP3 MMP9
24 spastic entropion 9.9 MMP3 MMP9
25 gingival hypertrophy 9.9 MMP3 MMP9
26 light chain deposition disease 9.9 CD68 MMP9
27 adult astrocytic tumour 9.9 MMP3 MMP9
28 corneal ulcer 9.8 MMP3 MMP9
29 photokeratitis 9.8 CD68 MMP9
30 villous adenocarcinoma 9.8 FN1 MMP9
31 arteriovenous malformation 9.8 MMP3 MMP9
32 aortic aneurysm, familial abdominal, 1 9.8 MMP3 MMP9
33 carotid artery disease 9.8 MMP3 MMP9
34 varicose veins 9.8 MMP3 MMP9
35 takayasu arteritis 9.8 MMP3 MMP9
36 pediatric multiple sclerosis 9.7 GSN MMP9 TTR
37 periodontitis 9.7 MMP3 MMP9
38 kawasaki disease 9.7 MMP3 MMP9
39 arthritis 9.6 MMP3 MMP9 SAA1
40 periodontal disease 9.5 MMP3 MMP9
41 rheumatoid arthritis 9.4 MMP3 MMP9 SAA1 TTR

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to Blepharochalasis

Symptoms & Phenotypes for Blepharochalasis

MGI Mouse Phenotypes related to Blepharochalasis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 FN1 GSN MMP3 MMP9 SAA1 TTR
2 skeleton MP:0005390 9.02 CD68 FN1 GSN MMP3 MMP9

Drugs & Therapeutics for Blepharochalasis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Astigmatic Changes Secondary to Eyelid Surgeries Unknown status NCT01968174
2 Levator Muscle Strength Evaluation Unknown status NCT02226016 Not Applicable
3 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610 Not Applicable

Search NIH Clinical Center for Blepharochalasis

Genetic Tests for Blepharochalasis

Anatomical Context for Blepharochalasis

MalaCards organs/tissues related to Blepharochalasis:

42
Eye, Skin, Neutrophil

Publications for Blepharochalasis

Articles related to Blepharochalasis:

(show top 50) (show all 66)
# Title Authors Year
1
Blepharochalasis: A rare presentation of cutis laxa. ( 30722931 )
2019
2
Blepharochalasis: 'drooping eyelids that raised our eyebrows'. ( 29936417 )
2018
3
An Unusual Case of Blepharochalasis. ( 28791070 )
2017
4
Blepharochalasis: A rare cause of eye swelling. ( 29150067 )
2017
5
Blepharochalasis: something to cry about. ( 27718529 )
2016
6
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26515861 )
2015
7
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. ( 25569415 )
2015
8
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26087089 )
2015
9
Langerhans cell disease of the eyelids masquerading as blepharochalasis. ( 24224501 )
2014
10
Blepharochalasis: possibly associated with matrix metalloproteinases. ( 24815765 )
2014
11
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. ( 25292259 )
2014
12
Unilateral blepharochalasis of right eye. ( 25284875 )
2014
13
Lacrimal gland prolapse in two cases of blepharochalasis syndrome and its treatment. ( 23543253 )
2013
14
Infraeyebrow blepharoplasty for blepharochalasis of the upper eyelid: its indication and priority. ( 22570783 )
2012
15
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. ( 21946773 )
2012
16
Acute episode of eyelid oedema. Blepharochalasis. ( 22467940 )
2012
17
Transcutaneous blepharoplasty in blepharochalasis. ( 23378713 )
2012
18
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. ( 20136468 )
2010
19
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. ( 19380685 )
2009
20
Successful medical treatment of blepharochalasis: a case series. ( 19874128 )
2009
21
The blepharochalasis syndrome. ( 19298902 )
2009
22
Blepharochalasis. ( 19293520 )
2009
23
Blepharochalasis--a rare entity. ( 18319025 )
2008
24
Oral acetazolamide: A treatment option for blepharochalasis? ( 19668490 )
2007
25
Elastin gene expression in blepharochalasis. ( 15841657 )
2005
26
Bilateral blepharochalasis. ( 16268879 )
2005
27
Lacrimal gland prolapse in blepharochalasis. ( 15069442 )
2004
28
Unilateral blepharochalasis. ( 12859930 )
2003
29
Blepharochalasis misdiagnosed as allergic recurrent angioedema. ( 14616136 )
2003
30
Blepharochalasis. ( 17656947 )
2002
31
Blepharochalasis. ( 17664751 )
2001
32
Bilateral eyelid edema: cutis laxa or blepharochalasis? ( 11092366 )
2000
33
Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis. ( 8977684 )
1996
34
Blepharochalasis. ( 20952919 )
1995
35
Mental retardation, microcephaly and blepharochalasis in brothers. ( 8055132 )
1994
36
Localised unilateral blepharochalasis. ( 7848988 )
1994
37
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. ( 1598975 )
1992
38
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. ( 1555128 )
1992
39
Blepharochalasis. A review of 30 cases. ( 1911519 )
1991
40
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. ( 2178883 )
1990
41
The Blepharochalasis syndrome. ( 2244849 )
1990
42
Blepharochalasis. ( 28128187 )
1989
43
Blepharochalasis. ( 3207663 )
1988
44
Blepharochalasis and dermatochalasis. ( 3183270 )
1988
45
Unilateral blepharochalasis. ( 3658315 )
1987
46
Floppy eyelid syndrome and blepharochalasis. ( 3752204 )
1986
47
Blepharochalasis syndrome. ( 3985080 )
1985
48
Blepharochalasis--a case report. ( 6545239 )
1984
49
Blepharochalasis with multiple system involvement. ( 6743619 )
1984
50
Blepharochalasis after a bee sting. ( 6718584 )
1984

Variations for Blepharochalasis

Expression for Blepharochalasis

Search GEO for disease gene expression data for Blepharochalasis.

Pathways for Blepharochalasis

Pathways related to Blepharochalasis according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 CD68 FN1 GSN MMP3 MMP9 SAA1
2
Show member pathways
12.99 FN1 GSN MMP3 MMP9
3
Show member pathways
12.93 FN1 MMP3 MMP9 SAA1
4
Show member pathways
12.28 FN1 MMP3 MMP9 TTR
5
Show member pathways
11.81 FN1 GSN MMP3 MMP9
6
Show member pathways
11.64 FN1 MMP3 MMP9
7 11.59 FN1 GSN
8
Show member pathways
11.55 MMP3 MMP9
9 11.49 MMP3 MMP9
10
Show member pathways
11.31 MMP3 MMP9
11 11.18 FN1 MMP9
12 11.18 CD68 MMP3 MMP9
13
Show member pathways
11.13 GSN MMP9
14 11.05 MMP3 MMP9
15 10.98 FN1 MMP3 MMP9 SAA1
16 10.92 FN1 MMP9
17 10.92 FN1 MMP3 MMP9

GO Terms for Blepharochalasis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 FN1 GSN MMP9 SAA1 TTR
2 extracellular region GO:0005576 9.43 FN1 GSN MMP3 MMP9 SAA1 TTR
3 extracellular matrix GO:0031012 9.33 FN1 MMP3 MMP9
4 extracellular space GO:0005615 9.1 FN1 GSN MMP3 MMP9 SAA1 TTR

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.62 CD68 GSN MMP9 TTR
2 extracellular matrix organization GO:0030198 9.54 FN1 MMP9 TTR
3 wound healing GO:0042060 9.49 FN1 GSN
4 cellular response to cadmium ion GO:0071276 9.48 GSN MMP9
5 acute-phase response GO:0006953 9.46 FN1 SAA1
6 cytokine-mediated signaling pathway GO:0019221 9.46 FN1 MMP3 MMP9 SAA1
7 collagen catabolic process GO:0030574 9.43 MMP3 MMP9
8 endodermal cell differentiation GO:0035987 9.4 FN1 MMP9
9 regulation of neuroinflammatory response GO:0150077 9.26 MMP3 MMP9
10 extracellular matrix disassembly GO:0022617 9.13 GSN MMP3 MMP9
11 cellular protein metabolic process GO:0044267 8.92 FN1 GSN SAA1 TTR

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 MMP3 MMP9
2 collagen binding GO:0005518 8.62 FN1 MMP9

Sources for Blepharochalasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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