MCID: BLP001
MIFTS: 26

Blepharochalasis

Categories: Eye diseases, Skin diseases

Aliases & Classifications for Blepharochalasis

MalaCards integrated aliases for Blepharochalasis:

Name: Blepharochalasis 12 15 70 32

Classifications:



External Ids:

Disease Ontology 12 DOID:348
ICD9CM 34 374.34
SNOMED-CT 67 193944001
ICD10 32 H02.3
UMLS 70 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 elsahy-waters syndrome. An important gene associated with Blepharochalasis is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include eye and skin.

Wikipedia : 73 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 50)
# Related Disease Score Top Affiliating Genes
1 blepharochalasis and double lip 11.4
2 elsahy-waters syndrome 11.2
3 blepharochalasis, superior 11.0
4 isolated blepharochalasis 10.9
5 ptosis 10.4
6 angioedema 10.2
7 blepharophimosis 10.1
8 skin atrophy 10.1
9 cutis laxa 10.1
10 exophthalmos 10.1
11 cerebral amyloid angiopathy, app-related 10.1 SERPINA3 GSN
12 cerebral amyloid angiopathy, itm2b-related, 1 10.1 SERPINA3 GSN
13 corneal dystrophy, gelatinous drop-like 10.0 GSN COL8A2
14 epithelial and subepithelial dystrophy 10.0 GSN COL8A2
15 stromal dystrophy 10.0 COL8A2 CHST5
16 testicular yolk sac tumor 10.0 TTR SERPINA3
17 amyloid neuropathy 10.0 TTR GSN
18 autonomic peripheral neuropathy 10.0 TTR GSN
19 asymmetric motor neuropathy 10.0 TTR GSN
20 epithelial-stromal tgfbi dystrophy 10.0 GSN COL8A2
21 pediatric multiple sclerosis 10.0 TTR GSN
22 hereditary amyloidosis 10.0 TTR GSN
23 amyloidosis, hereditary, transthyretin-related 9.9 TTR GSN
24 normal pressure hydrocephalus 9.9 TTR SERPINA3
25 corneal disease 9.9 SERPINA3 GSN COL8A2
26 glaucoma, primary open angle 9.9 SERPINA3 COL8A2
27 congenital ptosis 9.8
28 hereditary lymphedema i 9.8
29 dermatomyositis 9.8
30 microcephaly 9.8
31 entropion 9.8
32 facial paralysis 9.8
33 papillary conjunctivitis 9.8
34 multiple chemical sensitivity 9.8
35 conjunctivitis 9.8
36 connective tissue disease 9.8
37 thyroiditis 9.8
38 diabetes insipidus 9.8
39 blepharitis 9.8
40 acquired cutis laxa 9.8
41 premature aging 9.8
42 epiblepharon 9.8
43 corneal dystrophy 9.8 GSN COL8A2 CHST5
44 amyloidosis, familial visceral 9.8 TTR GSN
45 nutritional deficiency disease 9.8 TTR SERPINA3
46 amyloidosis, finnish type 9.8 TTR SERPINA3 GSN
47 amyloidosis 9.8 TTR SERPINA3 GSN
48 collagen disease 9.8 SERPINA3 FKBP14 ADAMTS2
49 cerebral amyloid angiopathy, cst3-related 9.8 TTR SERPINA3 GSN
50 intraocular pressure quantitative trait locus 9.7 TTR SERPINA3

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to Blepharochalasis

Symptoms & Phenotypes for Blepharochalasis

Drugs & Therapeutics for Blepharochalasis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Quantitative Evaluation of Levator Palpebra Muscle Strength Unknown status NCT02226016

Search NIH Clinical Center for Blepharochalasis

Genetic Tests for Blepharochalasis

Anatomical Context for Blepharochalasis

MalaCards organs/tissues related to Blepharochalasis:

40
Eye, Skin

Publications for Blepharochalasis

Articles related to Blepharochalasis:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Facial skin esthetic treatments with plasma radiofrequency ablation. 61
33683794 2021
2
Delayed migration of soft tissue fillers in the periocular area masquerading as eyelid and orbital pathology. 61
33737282 2021
3
Ascher's syndrome: a rare cause of lip swelling. 61
32777934 2020
4
Surgical management of double lip: A case report. 61
32893651 2020
5
Ascher Syndrome: Acquired Double Lower Lip Combined With Epulis Fissuratum. 61
32472894 2020
6
[Clinical histopathologic characteristics of lacrimal glands in lacrimal gland prolapse with blepharochalasis]. 61
32187949 2020
7
Stepwise surgery with variable adjustments for severe blepharochalasis with multiple chemical sensitivity: a case report. 61
32128348 2020
8
Ascher syndrome: A case report. 61
31293273 2019
9
Blepharochalasis. 61
31292031 2019
10
Blepharochalasis: A rare presentation of cutis laxa. 61
30722931 2019
11
Split-face comparison study of transcutaneous pneumatic injection therapy with isotonic and hypertonic glucose solutions. 61
30146720 2019
12
Ascher syndrome: a rare case of blepharochalasis combined with double lip and Hashimoto's thyroiditis. 61
31236366 2019
13
Blepharochalasis: 'drooping eyelids that raised our eyebrows'. 61
29936417 2018
14
Double eyelid surgery by using palpebral marginal incision technique in Asians. 61
30054218 2018
15
Patient-reported outcome measurement in upper blepharoplasty: How to measure what the patient sees. 61
30173717 2018
16
Blepharochalasis: A rare cause of eye swelling. 61
29150067 2017
17
Do you know this syndrome? Ascher´s syndrome: clinical findings of little known triad. 61
29166520 2017
18
[Effectiveness of retro-orbicularis oculi fat resection in Park double eyelid surgery to correct swollen upper eyelid]. 61
29806440 2017
19
An Unusual Case of Blepharochalasis. 61
28791070 2017
20
Blepharochalasis: something to cry about. 61
27718529 2017
21
Gender differences in the clinical course of Finnish gelsolin amyloidosis. 61
26805765 2016
22
Blepharochalasis with double lip: A case of Ascher syndrome. 61
26515861 2015
23
Ascher syndrome: report of a case with early manifestations. 61
26000088 2015
24
Ascher's syndrome: A rare case report. 61
25971175 2015
25
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. 61
25569415 2015
26
Blepharochalasis showing prominent infiltration of neutrophils in dermal vessels. 61
25292259 2014
27
Unilateral blepharochalasis of right eye. 61
25284875 2014
28
Tarsodermal suture fixation preceding redundant skin excision: a modified non-incisional upper blepharoplasty method for elderly patients. 61
25075364 2014
29
Blepharochalasis: possibly associated with matrix metalloproteinases. 61
24815765 2014
30
Lacrimal gland prolapse in two cases of blepharochalasis syndrome and its treatment. 61
23543253 2014
31
Langerhans cell disease of the eyelids masquerading as blepharochalasis. 61
24224501 2014
32
Management of the large upper eyelid defects with cutler-beard flap. 61
24772349 2014
33
Management of an unusual presentation of Ascher syndrome. 61
23172481 2012
34
Transcutaneous blepharoplasty in blepharochalasis. 61
23378713 2012
35
[Clinical features of blepharochalasis and surgical treatment of associated deformities]. 61
23141508 2012
36
Acute episode of eyelid oedema. Blepharochalasis. 61
22467940 2012
37
Doxycycline for treatment of blepharochalasis via inhibition of matrix metalloproteinases. 61
21946773 2012
38
Infraeyebrow blepharoplasty for blepharochalasis of the upper eyelid: its indication and priority. 61
22570783 2012
39
Lacrimal gland fistula after upper eyelid blepharoplasty. 61
22224026 2011
40
Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis. 61
21617468 2011
41
Ascher syndrome: Review of literature and case report. 61
21713204 2011
42
Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old. 61
20136468 2010
43
Surgical correction and MR imaging of double lip in Ascher syndrome: record of a case and a review of the literature. 61
19694346 2009
44
Blepharochalasis: a rare condition misdiagnosed as recurrent angioedema. 61
19380685 2009
45
The blepharochalasis syndrome. 61
19298902 2009
46
Blepharochalasis. 61
19293520 2009
47
Successful medical treatment of blepharochalasis: a case series. 61
19874128 2009
48
[Fast installation of blepharochalasis]. 61
19180836 2008
49
Blepharochalasis--a rare entity. 61
18319025 2008
50
Oral acetazolamide: A treatment option for blepharochalasis? 61
19668490 2007

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 TTR COL8A2 ADAMTS2

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 9.55 TTR SERPINA3 GSN COL8A2 ADAMTS2
2 azurophil granule lumen GO:0035578 8.96 TTR SERPINA3
3 collagen-containing extracellular matrix GO:0062023 8.8 SERPINA3 COL8A2 ADAMTS2

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.13 TTR SERPINA3 GSN
2 extracellular matrix organization GO:0030198 8.8 TTR COL8A2 ADAMTS2

Sources for Blepharochalasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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