MCID: IRD003
MIFTS: 25

Iridocorneal Endothelial Syndrome malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Iridocorneal Endothelial Syndrome

About this section
Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Iridocorneal Endothelial Syndrome:

Name: Iridocorneal Endothelial Syndrome 45 51
Ice Syndrome 45 51
 
Ichthyosis--Cheek--Eyebrow Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
iridocorneal endothelial syndrome:
Inheritance: Not applicable; Age of onset: Adult

Classifications:



External Ids:

Orphanet51 64734
UMLS via Orphanet66 C0339285, C1096100
ICD10 via Orphanet28 H21.1
MESH via Orphanet37 D057129
UMLS65 C1840283

Summaries for Iridocorneal Endothelial Syndrome

About this section
NIH Rare Diseases:45 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, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. 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: 12/1/2015

MalaCards based summary: Iridocorneal Endothelial Syndrome, also known as ice syndrome, is related to chandler syndrome and cogan-reese syndrome. An important gene associated with Iridocorneal Endothelial Syndrome is KRT3 (Keratin 3). Affiliated tissues include endothelial, eye and breast.

Wikipedia:68 Iridocorneal endothelial or ICE syndrome is a spectrum of conditions of the eye, where the inner layer... more...

Related Diseases for Iridocorneal Endothelial Syndrome

About this section

Graphical network of the top 20 diseases related to Iridocorneal Endothelial Syndrome:



Diseases related to iridocorneal endothelial syndrome

Symptoms for Iridocorneal Endothelial Syndrome

About this section

Drugs & Therapeutics for Iridocorneal Endothelial Syndrome

About this section

Drugs for Iridocorneal Endothelial Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 1, Phase 27004
2Ophthalmic SolutionsPhase 1, Phase 21006

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK)Active, not recruitingNCT01357122Phase 4
2A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED)RecruitingNCT02653391Phase 1, Phase 2
3Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
4Study of Endothelial Keratoplasty OutcomesRecruitingNCT00800111
5Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)RecruitingNCT02020044
6Specular Microscopy StudyRecruitingNCT02478970
7Early Experience With Descemet's Stripping Automated Endothelial KeratoplastyRecruitingNCT00744796
8The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal DystrophyRecruitingNCT01795001
9Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and PathologyActive, not recruitingNCT01979250
10Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCTNot yet recruitingNCT02542644

Search NIH Clinical Center for Iridocorneal Endothelial Syndrome

Genetic Tests for Iridocorneal Endothelial Syndrome

About this section

Anatomical Context for Iridocorneal Endothelial Syndrome

About this section

MalaCards organs/tissues related to Iridocorneal Endothelial Syndrome:

33
Endothelial, Eye, Breast, Myeloid, Liver, Prostate, T cells

Animal Models for Iridocorneal Endothelial Syndrome or affiliated genes

About this section

Publications for Iridocorneal Endothelial Syndrome

About this section

Articles related to Iridocorneal Endothelial Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Weight change trajectory in women with breast cancer receiving chemotherapy and the effect of different regimens. (24393441)
2014
2
Hip joint osteochondroma: systematic review of the literature and report of three further cases. (24963411)
2014
3
Inhibition of constitutively activated phosphoinositide 3-kinase/AKT pathway enhances antitumor activity of chemotherapeutic agents in breast cancer susceptibility gene 1-defective breast cancer cells. (22488590)
2013
4
Association and interaction effect between VEGF receptor-2 (VEGFR-2) gene polymorphisms and dietary pattern on blood uric acid in Malays and Indians. (24568071)
2012
5
Molecular detection of spotted fever group rickettsiae associated with ixodid ticks in Egypt. (22217182)
2012
6
Memory impairment in a simple recall task increases mortality at 10 years in non-demented elderly. (20652904)
2011
7
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. (21277872)
2011
8
Giant villous adenoma and McKittrick-Wheelock syndrome in an incarcerated rectal prolapse. (19220372)
2010
9
Thinner intoxication manifesting as methemoglobinemia. (19347673)
2009
10
The DLC-1 -29A/T polymorphism is not associated with nasopharyngeal carcinoma risk in Chinese population. (18627284)
2008
11
Intestinal obstruction by capsule endoscopy in a patient with radiation enteritis. (18402746)
2008
12
Cycloprodigiosin hydrochloride activates the Ras-PI3K-Akt pathway and suppresses protein synthesis inhibition-induced apoptosis in PC12 cells. (18540098)
2008
13
Role of p53 codon 72 arginine allele in cell survival in vitro and in the clinical outcome of patients with advanced breast cancer. (18612219)
2008
14
Molecular detection of SS18-SSX fusion gene transcripts by cRNA in situ hybridization in synovial sarcoma using formalin-fixed, paraffin-embedded tumor tissue specimens. (17471153)
2007
15
Pregnancy complicated with maternal pulmonary hypertension and placenta accreta. (17591587)
2007
16
Liver X receptor: crucial mediator in lipid and carbohydrate metabolism]. (17633477)
2007
17
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions? (17588296)
2007
18
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. (17190853)
2007
19
The BCL2 major breakpoint region (mbr) regulates gene expression. (17057736)
2007
20
On call. Last month I developed severe weakness on the whole left side of my face. My doctor diagnosed Bell's palsy and referred me to a neurologist. I recovered before I got to see her, so I didn't keep the appointment. Although my face is now back to normal, I'd like to know more about the condition. What can you tell me? (17278299)
2006
21
Clinical evaluation of four cytokines in serum and prostatic fluid in chronic abacterial prostatitis]. (16483153)
2006
22
The 14-3-3 protein epsilon isoform expressed in reactive astrocytes in demyelinating lesions of multiple sclerosis binds to vimentin and glial fibrillary acidic protein in cultured human astrocytes. (15277231)
2004
23
Alpha1-antitrypsin replacement therapy controls fibromyalgia symptoms in 2 patients with PI ZZ alpha1-antitrypsin deficiency. (15468381)
2004
24
Clinical characteristics of an outbreak of hand, foot and mouth disease in Singapore. (12854382)
2003
25
New data on Myxobolus longisporus (Myxozoa: Myxobolidae), a gill infecting parasite of carp, Cyprinus carpio haematopterus, from Chinese lakes. (14971594)
2003
26
Genetic linkage of systemic lupus erythematosus with chromosome 11q14 (SLEH1) in African-American families stratified by a nucleolar antinuclear antibody pattern. (12215899)
2002
27
Chronic actinic dermatitis treated with cyclosporine-A. (12370134)
2002
28
CT findings of intracranial blastomycosis in a dog. (11871374)
2002
29
Heritable coagulopathies in pregnancy. (10596396)
1999
30
A review of the phenomenology and cognitive neuropsychological origins of the Capgras syndrome. (10029936)
1999
31
Heparin-selenocystamine conjugate with selenol groups. (9743246)
1998
32
Interleukin 1beta mediated calciotropic activity in serum of children with juvenile rheumatoid arthritis. (9458222)
1998
33
Assignment1 of CSRP1 encoding the LIM domain protein CRP1, to human chromosome 1q32 by fluorescence in situ hybridization. (9925910)
1998
34
Fine needle aspiration cytology of clear cell sarcoma of the kidney. A case report. (9850658)
1998
35
Induction of apoptosis in human dermal microvascular endothelial cells and infantile hemangiomas by interferon-alpha. (9831809)
1998
36
Milk consumption, galactose metabolism and ovarian cancer (Australia). (10189050)
1998
37
Expression of reciprocal hybrid transcripts of HMGIC and FHIT in a pleomorphic adenoma of the parotid gland. (8988031)
1997
38
The temporolimbic system theory of paranoid schizophrenia. (9327514)
1997
39
Combined accelerated tissue-plasminogen activator and platelet glycoprotein IIb/IIIa integrin receptor blockade with Integrilin in acute myocardial infarction. Results of a randomized, placebo-controlled, dose-ranging trial. IMPACT-AMI Investigators. (9054741)
1997
40
Lactate dehydrogenase isoenzymes in patients with HELLP syndrome]. (8963883)
1996
41
Association between serum fibrinogen concentrations and HDL and LDL subfraction phenotypes in healthy men. (8548415)
1996
42
Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. (7756660)
1995
43
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). (8330584)
1993
44
Identification of new human receptor and transporter genes by high throughput cDNA (EST) sequencing. (8098743)
1993
45
Genetic aspects of vitamin D-deficient rickets: genetic markers of blood]. (1802786)
1991
46
Fibrodysplasia ossificans progressiva presenting as osteomyelitis-like syndrome. (3709023)
1986
47
Aphakic cystoid macular edema. A hypothesis. (4026641)
1985
48
Case report: eosinophilic gastritis simulating a neoplasm. (736058)
1978
49
Hemagglutinins of the St. Louis and western equine encephalitis viruses: isolation, properties, and use for diagnosis and epidemiologic survey. (12984831)
1952
50

Variations for Iridocorneal Endothelial Syndrome

About this section

Expression for genes affiliated with Iridocorneal Endothelial Syndrome

About this section
Search GEO for disease gene expression data for Iridocorneal Endothelial Syndrome.

Pathways for genes affiliated with Iridocorneal Endothelial Syndrome

About this section

GO Terms for genes affiliated with Iridocorneal Endothelial Syndrome

About this section

Sources for Iridocorneal Endothelial Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet