MCID: IRD003
MIFTS: 22

Iridocorneal Endothelial Syndrome malady

Eye, Fetal categories

Summaries for Iridocorneal Endothelial Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Iridocorneal endothelial (ice) syndrome describes a group of eye diseases that are characterized by three main features:  visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye)  swelling of the cornea, and  the development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ice syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. the condition is actually a grouping of three closely linked conditions: cogan-reese syndrome; chandler's syndrome; and essential (progressive) iris atrophy. the cause of ice syndrome is unknown. while there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.  last updated: 12/1/2011

MalaCards: Iridocorneal Endothelial Syndrome, also known as ice syndrome, is related to ichthyosis cheek eyebrow syndrome and micro syndrome. An important gene associated with Iridocorneal Endothelial Syndrome is KRT3 (keratin 3). Affiliated tissues include endothelial.

Wikipedia:64 Iridocorneal endothelial or ICE syndrome is a spectrum of conditions of the eye, where the inner layer... more...

Aliases & Classifications for Iridocorneal Endothelial Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
iridocorneal endothelial syndrome:
Inheritance: Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

iridocorneal endothelial syndrome 43 49
ice syndrome 43 49
ichthyosis--cheek--eyebrow syndrome 61


External Ids:

MESH via Orphanet36 D057129
ICD10 via Orphanet26 H21.1
SNOMED-CT via Orphanet58 129623003, 231936006
UMLS via Orphanet62 C0339285, C1096100

Related Diseases for Iridocorneal Endothelial Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Iridocorneal Endothelial Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis cheek eyebrow syndrome10.7
2micro syndrome10.7
3axenfeld-rieger syndrome10.2
4down syndrome10.2
5char syndrome10.2
6young syndrome10.2
7chand syndrome10.2
8bod syndrome10.2
9cogan's syndrome10.2
10cogan-reese syndrome10.2
11essential iris atrophy10.0

Graphical network of diseases related to Iridocorneal Endothelial Syndrome:



Diseases related to iridocorneal endothelial syndrome

Clinical Features for Iridocorneal Endothelial Syndrome

Drugs & Therapeutics for Iridocorneal Endothelial Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Iridocorneal Endothelial Syndrome

Anatomical Context for Iridocorneal Endothelial Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Iridocorneal Endothelial Syndrome:

33
Endothelial

Animal Models for Iridocorneal Endothelial Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Iridocorneal Endothelial Syndrome

Sources:
51PubMed
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Articles related to Iridocorneal Endothelial Syndrome:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Iridocorneal endothelial syndrome. (24407828)
2014
2
Intracameral injection of tissue plasminogen activator to treat severe postoperative fibrinous reaction in iridocorneal endothelial syndrome. (24109245)
2013
3
Management of detached graft donor by SFa88 injection following Descemet stripping automated endothelial keratoplasty of an eye with iridocorneal endothelial syndrome and Ahmed glaucoma drainage tube. (22752650)
2012
4
Iridocorneal endothelial syndrome in a 16-year-old. (20616751)
2011
5
Bilateral iridocorneal endothelial syndrome in a young girl with Down's syndrome. (19075416)
2009
6
Deep lamellar endothelial keratoplasty for iridocorneal endothelial syndrome in phakic eyes. (19139335)
2009
7
Descemet's stripping with endothelial keratoplasty in iridocorneal endothelial syndrome. (18254352)
2008
8
Coexistence of unilateral iridocorneal endothelial syndrome and sensorineural deafness. (17641715)
2007
9
Iridocorneal endothelial syndrome in a child. (17022165)
2006
10
Reduced corneal swelling and deswelling response in the iridocorneal endothelial syndrome. (17041320)
2006
11
Ultrasound biomicroscopy of Chinese eyes with iridocorneal endothelial syndrome. (16361670)
2006
12
Macular edema and iridocorneal endothelial syndrome: a case report. (15725892)
2005
13
Features of the iridocorneal endothelial syndrome on confocal microscopy. (15778613)
2005
14
Bilaminar interepithelial bodies within fingerprint dystrophy-like changes in bilateral iridocorneal endothelial syndrome. (12642328)
2003
15
Long-term surgical outcomes of patients with glaucoma secondary to the iridocorneal endothelial syndrome. (11581050)
2001
16
Penetrating keratoplasty in iridocorneal endothelial syndrome. (11248814)
2001
17
Clinical and specular microscopic manifestations of iridocorneal endothelial syndrome. (11369379)
2001
18
Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome. (11296040)
2001
19
Iridocorneal endothelial syndrome in Thai patients: clinical variations. (10676783)
2000
20
Outcome of trabeculectomy with mitomycin-C in the iridocorneal endothelial syndrome. (10690828)
2000
21
Long-term outcome of aqueous shunt surgery in ten patients with iridocorneal endothelial syndrome. (10328409)
1999
22
Pseudocapsulorrhexis in a patient with iridocorneal endothelial syndrome. (10088823)
1999
23
The contralateral corneal endothelium in the iridocorneal endothelial syndrome. (9006423)
1997
24
Endothelial metaplasia in the iridocorneal endothelial syndrome. (9286281)
1997
25
The histopathology of the iridocorneal-endothelial syndrome. (8907380)
1996
26
Bilateral iridocorneal endothelial syndrome presented as Cogan-Reese and Chandler's syndrome. (8795735)
1996
27
On the pathology of the iridocorneal-endothelial syndrome: the ultrastructural appearances of 'subtotal-ice'. (7556740)
1995
28
Immunohistochemical pathology of the corneal endothelium in iridocorneal endothelial syndrome. (7706030)
1995
29
Bilateral iridocorneal endothelial syndrome. (7600821)
1995
30
Descemet's membrane in the iridocorneal-endothelial syndrome: morphology and composition. (7556496)
1995
31
Bilateral iridocorneal endothelial syndrome: case report and review of the literature. (7924340)
1994
32
Prognosis for penetrating keratoplasty in iridocorneal endothelial syndrome. (8494813)
1993
33
Differential diagnosis of iridocorneal endothelial syndrome and posterior polymorphous endothelial dystrophy. (8218068)
1993
34
Cytokeratin expression in corneal endothelium in the iridocorneal endothelial syndrome. (1281463)
1992
35
Progression and regression of partial corneal involvement in the iridocorneal endothelial syndrome. (1642292)
1992
36
Progression and regression of partial corneal involvement in the iridocorneal endothelial syndrome. (1494820)
1992
37
Glaucoma and the iridocorneal endothelial syndrome. (1543451)
1992
38
On the morphology of cells of posterior cornea in the iridocorneal endothelial syndrome. (2055030)
1991
39
Distinguishing features of the iridocorneal endothelial syndrome and posterior polymorphous dystrophy: value of endothelial specular microscopy. (2021586)
1991
40
Penetrating keratoplasty in the management of iridocorneal endothelial syndrome. (2647408)
1989
41
Desquamating endotheliopathy. An incipient iridocorneal endothelial syndrome? (3310985)
1987
42
Iridocorneal endothelial syndrome with contralateral guttate endothelial dystrophy. A light and electron microscopic study. (3498920)
1987
43
Clinical, electron microscopic, and immunohistochemical study of the corneal endothelium and Descemet's membrane in the iridocorneal endothelial syndrome. (2417484)
1986
44
Ring melanoma of the iris. Iridocorneal endothelial syndrome. (3997357)
1985
45
The corneal endothelium and Descemet's membrane in the iridocorneal endothelial syndrome. (3832533)
1985
46
Results of penetrating keratoplasty in the iridocorneal endothelial syndrome. (6383056)
1984
47
The contralateral eye in the iridocorneal endothelial syndrome. (6472826)
1984
48
Decreased endothelial permeability in the iridocorneal endothelial syndrome. (7122039)
1982
49
Partial corneal involvement in the iridocorneal endothelial syndrome. (7180916)
1982
50
Proliferative endotheliopathy with iris abnormalities. The iridocorneal endothelial syndrome. (508177)
1979

Genetic Variations for Iridocorneal Endothelial Syndrome

Expression for genes affiliated with Iridocorneal Endothelial Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Iridocorneal Endothelial Syndrome

Search GEO for disease gene expression data for Iridocorneal Endothelial Syndrome.

Pathways for genes affiliated with Iridocorneal Endothelial Syndrome

Compounds for genes affiliated with Iridocorneal Endothelial Syndrome

GO Terms for genes affiliated with Iridocorneal Endothelial Syndrome

Products for genes affiliated with Iridocorneal Endothelial Syndrome

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Sources for Iridocorneal Endothelial Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet