Aliases & Classifications for Blepharochalasis

MalaCards integrated aliases for Blepharochalasis:

Name: Blepharochalasis 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:348
ICD10 32 H02.3
ICD9CM 34 374.34
UMLS 69 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 G-protein signaling Ras family GTPases in kinase cascades (scheme). Affiliated tissues include eye, skin and neutrophil, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 72 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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 blepharochalasis and double lip 12.2
2 blepharochalasis, superior 11.9
3 amyloid neuropathy 10.4 GSN TTR
4 amyloidosis, finnish type 10.4 GSN TTR
5 carotenemia 10.3 CD79A TTR
6 hereditary amyloidosis 10.3 GSN TTR
7 amyloidosis, hereditary, transthyretin-related 10.3 GSN TTR
8 marasmus 10.3 CD79A TTR
9 fox-fordyce disease 10.3 CD68 OSMR
10 amyloid tumor 10.3 CD79A TTR
11 viral esophagitis 10.2 CD68 CD79A
12 lymphoplasmacyte-rich meningioma 10.2 CD68 CD79A
13 parasitic ichthyosporea infectious disease 10.2 CD68 CD79A
14 rhinosporidiosis 10.2 CD68 CD79A
15 amyloidosis aa 10.2 SAA1 TTR
16 dysentery 10.2 CD79A TTR
17 rhinoscleroma 10.2 CD68 CD79A
18 protein-energy malnutrition 10.2 CD79A TTR
19 chronic follicular conjunctivitis 10.2 CD79A MMP9
20 papillary ependymoma 10.2 CD68 TTR
21 ulcerative stomatitis 10.2 CD68 CD79A
22 indeterminate leprosy 10.2 CD68 CD79A
23 parotitis 10.1 CD79A MMP9
24 lymphocytic colitis 10.1 CD79A MMP9
25 shigellosis 10.1 CD79A TTR
26 obstructive jaundice 10.1 CD79A TTR
27 lymph node disease 10.1 CD79A MMP3
28 periodontosis 10.1 CD79A MMP9
29 rheumatoid nodulosis 10.1 MMP3 MMP9
30 ptosis 10.1
31 spastic entropion 10.1 MMP3 MMP9
32 gingival hypertrophy 10.1 MMP3 MMP9
33 squamous cell carcinoma of the hypopharynx 10.1 MMP3 MMP9
34 amyloidosis, familial visceral 10.0 GSN SAA1 TTR
35 light chain deposition disease 10.0 CD68 MMP9
36 adult astrocytic tumour 10.0 MMP3 MMP9
37 spondyloarthropathy 1 10.0 CD79A MMP3
38 photokeratitis 10.0 CD68 MMP9
39 corneal ulcer 10.0 MMP3 MMP9
40 pharynx cancer 10.0 CD79A MMP9
41 sorsby fundus dystrophy 10.0 MMP3 MMP9
42 angioedema 10.0
43 pelvic organ prolapse 9.9 MMP3 MMP9
44 pediatric multiple sclerosis 9.9 GSN MMP9 TTR
45 hypertropia 9.9 LAX1 TTR
46 arteriovenous malformation 9.9 MMP3 MMP9
47 gingivitis 9.9 CD79A MMP9
48 hydrops, lactic acidosis, and sideroblastic anemia 9.8
49 acute lymphocytic leukemia 9.8
50 leukemia 9.8

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to Blepharochalasis

Symptoms & Phenotypes for Blepharochalasis

MGI Mouse Phenotypes related to Blepharochalasis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CD68 CD79A GSN LAX1 MMP3 MMP9
2 homeostasis/metabolism MP:0005376 9.5 CD79A GSN MMP3 MMP9 OSMR SAA1
3 immune system MP:0005387 9.17 CD68 CD79A GSN LAX1 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
3 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610

Search NIH Clinical Center for Blepharochalasis

Genetic Tests for Blepharochalasis

Anatomical Context for Blepharochalasis

MalaCards organs/tissues related to Blepharochalasis:

38
Eye, Skin, Neutrophil

Publications for Blepharochalasis

Articles related to Blepharochalasis:

(show top 50) (show all 63)
# Title Authors Year
1
An Unusual Case of Blepharochalasis. ( 28791070 )
2017
2
Blepharochalasis: A rare cause of eye swelling. ( 29150067 )
2017
3
Blepharochalasis: something to cry about. ( 27718529 )
2016
4
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26515861 )
2015
5
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. ( 25569415 )
2015
6
Blepharochalasis with double lip: A case of Ascher syndrome. ( 26087089 )
2015
7
Unilateral blepharochalasis of right eye. ( 25284875 )
2014
8
Blepharochalasis: possibly associated with matrix metalloproteinases. ( 24815765 )
2014
9
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. ( 25292259 )
2014
10
Langerhans cell disease of the eyelids masquerading as blepharochalasis. ( 24224501 )
2014
11
Lacrimal gland prolapse in two cases of blepharochalasis syndrome and its treatment. ( 23543253 )
2013
12
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. ( 21946773 )
2012
13
Infraeyebrow blepharoplasty for blepharochalasis of the upper eyelid: its indication and priority. ( 22570783 )
2012
14
Transcutaneous blepharoplasty in blepharochalasis. ( 23378713 )
2012
15
Acute episode of eyelid oedema. Blepharochalasis. ( 22467940 )
2012
16
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. ( 20136468 )
2010
17
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. ( 19380685 )
2009
18
Successful medical treatment of blepharochalasis: a case series. ( 19874128 )
2009
19
Blepharochalasis. ( 19293520 )
2009
20
The blepharochalasis syndrome. ( 19298902 )
2009
21
Blepharochalasis--a rare entity. ( 18319025 )
2008
22
Oral acetazolamide: A treatment option for blepharochalasis? ( 19668490 )
2007
23
Bilateral blepharochalasis. ( 16268879 )
2005
24
Elastin gene expression in blepharochalasis. ( 15841657 )
2005
25
Lacrimal gland prolapse in blepharochalasis. ( 15069442 )
2004
26
Unilateral blepharochalasis. ( 12859930 )
2003
27
Blepharochalasis misdiagnosed as allergic recurrent angioedema. ( 14616136 )
2003
28
Blepharochalasis. ( 17656947 )
2002
29
Blepharochalasis. ( 17664751 )
2001
30
Bilateral eyelid edema: cutis laxa or blepharochalasis? ( 11092366 )
2000
31
Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis. ( 8977684 )
1996
32
Blepharochalasis. ( 20952919 )
1995
33
Localised unilateral blepharochalasis. ( 7848988 )
1994
34
Mental retardation, microcephaly and blepharochalasis in brothers. ( 8055132 )
1994
35
Blepharochalasis associated with dermatomyositis and acute lymphocytic leukemia. ( 1598975 )
1992
36
Blepharochalasis syndrome: a proposed pathophysiologic mechanism. ( 1555128 )
1992
37
Blepharochalasis. A review of 30 cases. ( 1911519 )
1991
38
A review of blepharochalasis and other causes of the lax, wrinkled eyelid. ( 2178883 )
1990
39
The Blepharochalasis syndrome. ( 2244849 )
1990
40
Blepharochalasis. ( 3207663 )
1988
41
Blepharochalasis and dermatochalasis. ( 3183270 )
1988
42
Unilateral blepharochalasis. ( 3658315 )
1987
43
Floppy eyelid syndrome and blepharochalasis. ( 3752204 )
1986
44
Blepharochalasis syndrome. ( 3985080 )
1985
45
Blepharochalasis after a bee sting. ( 6718584 )
1984
46
Blepharochalasis with multiple system involvement. ( 6743619 )
1984
47
Blepharochalasis--a case report. ( 6545239 )
1984
48
Blepharochalasis. ( 476029 )
1979
49
Unilateral blepharochalasis. ( 434876 )
1979
50
Blepharo-confusion--blepharochalasis or dermatochalasis? ( 655933 )
1978

Variations for Blepharochalasis

Expression for Blepharochalasis

Search GEO for disease gene expression data for Blepharochalasis.

Pathways for Blepharochalasis

GO Terms for Blepharochalasis

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

# Name GO ID Score Top Affiliating Genes
1 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 cellular protein metabolic process GO:0044267 9.5 GSN SAA1 TTR
2 collagen catabolic process GO:0030574 9.37 MMP3 MMP9
3 cellular response to cadmium ion GO:0071276 9.26 GSN MMP9
4 neutrophil degranulation GO:0043312 9.26 CD68 GSN MMP9 TTR
5 B cell activation GO:0042113 9.16 CD79A LAX1
6 extracellular matrix disassembly GO:0022617 8.8 GSN MMP3 MMP9

Sources for Blepharochalasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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