MCID: BLP001
MIFTS: 34

Blepharochalasis malady

Categories: Eye diseases

Aliases & Classifications for Blepharochalasis

Aliases & Descriptions for Blepharochalasis:

Name: Blepharochalasis 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:348
ICD10 33 H02.3
ICD9CM 35 374.34
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 anaplastic ependymoma. 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, neutrophil and skin, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 71 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 58)
id Related Disease Score Top Affiliating Genes
1 blepharochalasis and double lip 12.0
2 anaplastic ependymoma 10.2 GSN TTR
3 arthrogryposis, lethal, with anterior horn cell disease 10.2 GSN TTR
4 acute female pelvic peritonitis 10.2 CD79A TTR
5 hereditary lymphedema type ii 10.2 GSN TTR
6 alopecia-mental retardation syndrome 3 10.2 GSN TTR
7 male genital organ stricture 10.2 CD79A TTR
8 hypoglossal nerve disease 10.2 CD68 OSMR
9 childhood vagina botryoid rhabdomyosarcoma 10.2 CD79A TTR
10 tibial adamantinoma 10.2 CD68 CD79A
11 alkhurma hemorrhagic fever 10.2 CD68 CD79A
12 cutaneous ganglioneuroma 10.2 CD68 CD79A
13 ulnar neuropathy 10.2 CD68 CD79A
14 anaplastic ganglioglioma 10.1 SAA1 TTR
15 pneumocystosis 10.1 CD68 CD79A
16 toxic optic neuropathy 10.1 CD79A MMP9
17 viral meningitis 10.1 CD79A MMP9
18 diversion colitis 10.1 CD79A MMP9
19 spastic entropion 10.1 CD79A TTR
20 bladder sarcoma 10.1 CD79A TTR
21 isthmus cancer 10.1 CD79A MMP9
22 pediculus humanus corporis infestation 10.1 CD68 TTR
23 white piedra 10.1 CD79A GSN TTR
24 rosacea conjunctivitis 10.1 CD68 CD79A
25 right atrium familial dilatation 10.1 MMP3 MMP9
26 kleptomania 10.1 MMP3 MMP9
27 central nervous system adult germ cell tumor 10.1 MMP3 MMP9
28 van maldergem syndrome 2 10.1 GSN SAA1 TTR
29 omsk hemorrhagic fever 10.1 CD79A MMP9
30 cystic lymphangioma 10.1 MMP3 MMP9
31 chondrodysplasia punctata, rhizomelic, type 1 10.1 MMP3 MMP9
32 chronic erythremia 10.1 CD68 CD79A
33 linear porokeratosis 10.1 CD68 MMP9
34 schwannomatosis 10.0 MMP3 MMP9
35 striated muscle rhabdoid tumor 10.0 CD68 MMP9
36 retinal artery occlusion 10.0 MMP3 MMP9
37 polyneuropathy in collagen vascular disease 10.0 CD68 MMP9
38 entropion 10.0 CD79A TTR
39 penis agenesis 10.0 GSN MMP9 TTR
40 lingual-facial-buccal dyskinesia 10.0 LAX1 TTR
41 stenosis of lacrimal sac 10.0 CD79A MMP9
42 ptosis 10.0
43 tinea profunda 10.0 LAX1 MMP9
44 pituitary infarct 9.9 MMP3 MMP9
45 histiocytosis 9.9 CD79A MMP3 MMP9
46 paranasal sinus sarcoma 9.9 CD79A TTR
47 hard palate cancer 9.9 GSN OSMR SAA1 TTR
48 chordoid meningioma 9.9 MMP3 MMP9
49 angioedema 9.9
50 autoimmune-related retinopathy and optic neuropathy 9.9 MMP3 MMP9 SAA1

Graphical network of the top 20 diseases related to Blepharochalasis:



Diseases related to Blepharochalasis

Symptoms & Phenotypes for Blepharochalasis

MGI Mouse Phenotypes related to Blepharochalasis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 OSMR CD68 CD79A GSN LAX1 MMP3
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:


id Name Status NCT ID Phase
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 Not yet recruiting NCT02638610

Search NIH Clinical Center for Blepharochalasis

Genetic Tests for Blepharochalasis

Anatomical Context for Blepharochalasis

MalaCards organs/tissues related to Blepharochalasis:

39
Eye, Neutrophil, Skin

Publications for Blepharochalasis

Articles related to Blepharochalasis:

(show top 50) (show all 61)
id Title Authors Year
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

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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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