MCID: BLP001
MIFTS: 32

Blepharochalasis

Categories: Eye diseases

Aliases & Classifications for Blepharochalasis

MalaCards integrated aliases for Blepharochalasis:

Name: Blepharochalasis 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:348
ICD10 33 H02.3
ICD9CM 35 374.34
SNOMED-CT 68 47704002
UMLS 73 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 Cytokine Signaling in Immune system. Affiliated tissues include eye, skin and neutrophil, and related phenotype is homeostasis/metabolism.

Wikipedia : 76 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 42)
# Related Disease Score Top Affiliating Genes
1 blepharochalasis and double lip 12.4
2 blepharochalasis, superior 12.0
3 isolated blepharochalasis 12.0
4 elsahy-waters syndrome 11.3
5 ptosis 10.2
6 angioedema 10.2
7 amyloidosis, finnish type 10.1 GSN TTR
8 hereditary amyloidosis 10.1 GSN TTR
9 fox-fordyce disease 10.1 CD68 OSMR
10 amyloidosis, hereditary, transthyretin-related 10.1 GSN TTR
11 cerebral amyloid angiopathy, cst3-related 10.1 GSN TTR
12 amyloidosis aa 10.0 SAA1 TTR
13 papillary ependymoma 10.0 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 cutis laxa 10.0
20 polyneuropathy 9.9 GSN TTR
21 amyloidosis, familial visceral 9.9 GSN SAA1 TTR
22 light chain deposition disease 9.9 CD68 MMP9
23 synovitis 9.9 CD68 MMP3
24 rheumatoid nodulosis 9.9 MMP3 MMP9
25 photokeratitis 9.9 CD68 MMP9
26 spastic entropion 9.9 MMP3 MMP9
27 gingival hypertrophy 9.9 MMP3 MMP9
28 adult astrocytic tumour 9.9 MMP3 MMP9
29 corneal ulcer 9.9 MMP3 MMP9
30 arteriovenous malformation 9.8 MMP3 MMP9
31 carotid artery disease 9.8 MMP3 MMP9
32 varicose veins 9.8 MMP3 MMP9
33 pediatric multiple sclerosis 9.8 GSN MMP9 TTR
34 takayasu arteritis 9.8 MMP3 MMP9
35 aortic aneurysm, familial abdominal, 1 9.8 MMP3 MMP9
36 amyloidosis 9.8 GSN OSMR SAA1 TTR
37 periodontitis 9.8 MMP3 MMP9
38 kawasaki disease 9.8 MMP3 MMP9
39 keratoconus 9.7 GSN MMP3 MMP9
40 arthritis 9.7 MMP3 MMP9 SAA1
41 periodontal disease 9.6 MMP3 MMP9
42 rheumatoid arthritis 9.5 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 GSN MMP3 MMP9 OSMR SAA1 TTR

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:

41
Eye, Skin, Neutrophil

Publications for Blepharochalasis

Articles related to Blepharochalasis:

(show top 50) (show all 65)
# Title Authors Year
1
Blepharochalasis: 'drooping eyelids that raised our eyebrows'. ( 29936417 )
2018
2
An Unusual Case of Blepharochalasis. ( 28791070 )
2017
3
Blepharochalasis: A rare cause of eye swelling. ( 29150067 )
2017
4
Blepharochalasis: something to cry about. ( 27718529 )
2016
5
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26515861 )
2015
6
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. ( 25569415 )
2015
7
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26087089 )
2015
8
Langerhans cell disease of the eyelids masquerading as blepharochalasis. ( 24224501 )
2014
9
Blepharochalasis: possibly associated with matrix metalloproteinases. ( 24815765 )
2014
10
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. ( 25292259 )
2014
11
Unilateral blepharochalasis of right eye. ( 25284875 )
2014
12
Lacrimal gland prolapse in two cases of blepharochalasis syndrome and its treatment. ( 23543253 )
2013
13
Infraeyebrow blepharoplasty for blepharochalasis of the upper eyelid: its indication and priority. ( 22570783 )
2012
14
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. ( 21946773 )
2012
15
Acute episode of eyelid oedema. Blepharochalasis. ( 22467940 )
2012
16
Transcutaneous blepharoplasty in blepharochalasis. ( 23378713 )
2012
17
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. ( 20136468 )
2010
18
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. ( 19380685 )
2009
19
Successful medical treatment of blepharochalasis: a case series. ( 19874128 )
2009
20
The blepharochalasis syndrome. ( 19298902 )
2009
21
Blepharochalasis. ( 19293520 )
2009
22
Blepharochalasis--a rare entity. ( 18319025 )
2008
23
Oral acetazolamide: A treatment option for blepharochalasis? ( 19668490 )
2007
24
Elastin gene expression in blepharochalasis. ( 15841657 )
2005
25
Bilateral blepharochalasis. ( 16268879 )
2005
26
Lacrimal gland prolapse in blepharochalasis. ( 15069442 )
2004
27
Unilateral blepharochalasis. ( 12859930 )
2003
28
Blepharochalasis misdiagnosed as allergic recurrent angioedema. ( 14616136 )
2003
29
Blepharochalasis. ( 17656947 )
2002
30
Blepharochalasis. ( 17664751 )
2001
31
Bilateral eyelid edema: cutis laxa or blepharochalasis? ( 11092366 )
2000
32
Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis. ( 8977684 )
1996
33
Blepharochalasis. ( 20952919 )
1995
34
Mental retardation, microcephaly and blepharochalasis in brothers. ( 8055132 )
1994
35
Localised unilateral blepharochalasis. ( 7848988 )
1994
36
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. ( 1598975 )
1992
37
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. ( 1555128 )
1992
38
Blepharochalasis. A review of 30 cases. ( 1911519 )
1991
39
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. ( 2178883 )
1990
40
The Blepharochalasis syndrome. ( 2244849 )
1990
41
Blepharochalasis. ( 28128187 )
1989
42
Blepharochalasis. ( 3207663 )
1988
43
Blepharochalasis and dermatochalasis. ( 3183270 )
1988
44
Unilateral blepharochalasis. ( 3658315 )
1987
45
Floppy eyelid syndrome and blepharochalasis. ( 3752204 )
1986
46
Blepharochalasis syndrome. ( 3985080 )
1985
47
Blepharochalasis--a case report. ( 6545239 )
1984
48
Blepharochalasis with multiple system involvement. ( 6743619 )
1984
49
Blepharochalasis after a bee sting. ( 6718584 )
1984
50
Blepharochalasis. ( 476029 )
1979

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 CD68 GSN MMP3 MMP9 OSMR SAA1
2
Show member pathways
12.89 MMP3 MMP9 OSMR SAA1
3
Show member pathways
12.29 MMP3 MMP9 TTR
4
Show member pathways
11.8 GSN MMP3 MMP9
5
Show member pathways
11.69 GSN MMP3 OSMR
6 11.58 MMP3 MMP9
7
Show member pathways
11.51 MMP3 MMP9
8 11.44 MMP3 MMP9
9 11.39 MMP3 MMP9 SAA1
10
Show member pathways
11.23 MMP3 MMP9
11 11.19 MMP3 MMP9
12
Show member pathways
11.02 GSN MMP9
13 10.91 MMP3 MMP9
14 10.65 CD68 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 region GO:0005576 9.35 GSN MMP3 MMP9 SAA1 TTR
2 extracellular space GO:0005615 9.02 GSN MMP3 MMP9 SAA1 TTR

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.56 CD68 GSN MMP9 TTR
2 cellular protein metabolic process GO:0044267 9.5 GSN SAA1 TTR
3 cellular response to cadmium ion GO:0071276 9.4 GSN MMP9
4 collagen catabolic process GO:0030574 9.37 MMP3 MMP9
5 cytokine-mediated signaling pathway GO:0019221 9.26 MMP3 MMP9 OSMR SAA1
6 regulation of neuroinflammatory response GO:0150077 9.16 MMP3 MMP9
7 extracellular matrix disassembly GO:0022617 8.8 GSN MMP3 MMP9

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 8.96 MMP3 MMP9
2 endopeptidase activity GO:0004175 8.62 MMP3 MMP9

Sources for Blepharochalasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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