MCID: CRN276
MIFTS: 37

Corneal Endothelial Dystrophy malady

Categories: Rare diseases, Eye diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Corneal Endothelial Dystrophy

Aliases & Descriptions for Corneal Endothelial Dystrophy:

Name: Corneal Endothelial Dystrophy 12 14
Chandler Syndrome 12 50 56 14 69
Endothelial Corneal Dystrophy 12 52
Chandler's Syndrome 12 50
Posterior Membrane Corneal Dystrophy 12
Iridocorneal Endothelial Syndrome 42
Dystrophy of Corneal Endothelium 12
Endothelial Dystrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060443 DOID:11554
ICD10 33 H18.51
ICD9CM 35 371.57
MeSH 42 D057129
Orphanet 56 ORPHA98979
ICD10 via Orphanet 34 H21.2
UMLS via Orphanet 70 C0544008
UMLS 69 C0544008

Summaries for Corneal Endothelial Dystrophy

NIH Rare Diseases : 50 chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). this condition is one of three syndromes, along with progressive iris atrophy and cogan-reese syndrome, that make up the iridocorneal endothelial (ice) syndrome. in most cases, only one eye is affected. symptoms may include reduced vision and pain. chandler's syndrome more often affects females and usually presents sometime during middle age. the cause of this disease is unknown. last updated: 8/11/2014

MalaCards based summary : Corneal Endothelial Dystrophy, also known as chandler syndrome, is related to corneal endothelial dystrophy 1, autosomal dominant and corneal endothelial dystrophy 2, autosomal recessive. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11). The drugs Loteprednol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotypes are Increased cilium length after serum starvation and vision/eye

Related Diseases for Corneal Endothelial Dystrophy

Diseases in the Corneal Endothelial Dystrophy family:

Corneal Endothelial Dystrophy 2, Autosomal Recessive Corneal Endothelial Dystrophy 1, Autosomal Dominant
Corneal Endothelial Dystrophy Type 2

Diseases related to Corneal Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
id Related Disease Score Top Affiliating Genes
1 corneal endothelial dystrophy 1, autosomal dominant 33.3 COL8A2 KRT3 OVOL2 SLC4A11 VSX1
2 corneal endothelial dystrophy 2, autosomal recessive 12.4
3 fuchs' endothelial dystrophy 12.4
4 iridocorneal endothelial syndrome 12.3
5 corneal endothelial dystrophy type 2 12.1
6 corneal endothelial dystrophy and perceptive deafness 12.1
7 corneal dystrophy, posterior polymorphous, 1 11.4
8 endotheliitis 10.4
9 hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase 10.3 OVOL2 SLC4A11
10 nut midline carcinoma 10.2 COL8A2 TGFBI
11 myopathy, myofibrillar, 3 10.2 COL8A2 TGFBI
12 idiopathic corneal edema 10.1 COL8A2 SLC4A11 TGFBI
13 enophthalmos 10.1 COL8A2 VSX1
14 corneal dystrophy, thiel-behnke type 10.1 CHST6 TGFBI
15 lymphedema 10.1 KRT12 KRT3
16 corneal dystrophy, posterior polymorphous 2 10.1 COL8A2 SLC4A11 VSX1
17 apparent mineralocorticoid excess 10.1 CHST6 KRT12 TGFBI
18 angioedema induced by ace inhibitors 10.1 COL8A2 SLC4A11 VSX1
19 necrotizing ulcerative gingivitis 10.1 CHST6 VSX1
20 corneal dystrophy, lattice type iiia 10.0 TACSTD2 TGFBI
21 keratoconus 10.0
22 corneal dystrophy, avellino type 10.0 GSN TGFBI
23 chromosome 3q29 microduplication syndrome 10.0 CHST6 TGFBI
24 deafness, autosomal recessive 30 10.0 COL8A2 OVOL2 SLC4A11 VSX1
25 chronic pulmonary heart disease 10.0 KRT12 KRT3 STS TGFBI
26 chondrocalcinosis 9.9 COL8A2 SLC4A11 TGFBI VSX1
27 epidermolysis bullosa simplex, weber-cockayne type 9.9 CHST6 COL8A2 KRT12 KRT3 TGFBI
28 complex partial epilepsy 9.8 KRT12 SAT1 TGFBI VSX1
29 cervix uteri carcinoma in situ 9.8 GSN TACSTD2 TGFBI
30 keratopathy 9.7
31 bullous keratopathy 9.7
32 corneal ectasia 9.7
33 corneal dystrophy 9.7
34 epithelial basement membrane dystrophy 9.6 CHST6 GSN KRT3 TACSTD2 TGFBI
35 chromosome 1p32-p31 deletion syndrome 9.6 CHST6 GSN KRT12 TACSTD2 TGFBI
36 malignant histiocytic disease 8.9 CHST6 COL8A2 GSN KRT12 KRT3 OVOL2
37 venous insufficiency 8.8 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
38 ciliary dyskinesia, primary, 5 8.8 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
39 muscular dystrophy, limb-girdle, type 1a 8.7 CHST6 COL8A2 GSN KRT12 KRT3 LCAT
40 desbuquois dysplasia 8.4 CHST6 COL8A2 GSN KRT12 KRT3 LCAT

Comorbidity relations with Corneal Endothelial Dystrophy via Phenotypic Disease Network (PDN):


Bullous Keratopathy Corneal Edema

Graphical network of the top 20 diseases related to Corneal Endothelial Dystrophy:



Diseases related to Corneal Endothelial Dystrophy

Symptoms & Phenotypes for Corneal Endothelial Dystrophy

GenomeRNAi Phenotypes related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.73 GSN LCAT TACSTD2
2 Increased cilium length after serum starvation GR00149-A-2 9.73 GSN LCAT TACSTD2
3 Increased cilium length GR00149-A-3 9.16 GSN LCAT
4 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.92 COL8A2 OVOL2 TACSTD2 VSX1

MGI Mouse Phenotypes related to Corneal Endothelial Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CHST6 COL8A2 KRT12 LCAT OVOL2 SLC4A11

Drugs & Therapeutics for Corneal Endothelial Dystrophy

Drugs for Corneal Endothelial Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 165)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved Phase 4,Phase 3 82034-46-6, 129260-79-3 444025 9865442
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
4 Anti-Allergic Agents Phase 4,Phase 3,Phase 2
5 Antiemetics Phase 4,Phase 2,Phase 3
6 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
7 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
8 Autonomic Agents Phase 4,Phase 2,Phase 3
9 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
10 glucocorticoids Phase 4,Phase 2,Phase 3
11 Hormone Antagonists Phase 4,Phase 2,Phase 3
12 Hormones Phase 4,Phase 2,Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
14 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
15 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
16 Neuroprotective Agents Phase 4,Phase 2,Phase 3
17 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
20 Prednisolone acetate Phase 4,Phase 2,Phase 3
21 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
22 Prednisolone phosphate Phase 4,Phase 2,Phase 3
23 Protective Agents Phase 4,Phase 2,Phase 3
24 Vasoconstrictor Agents Phase 4,Phase 3
25
Rifaximin Approved, Investigational Phase 3 80621-81-4 6436173
26
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
27
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
28
Busulfan Approved, Investigational Phase 3 55-98-1 2478
29
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
30
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
31
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
32
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
33
Asparaginase Approved Phase 3,Phase 1 9015-68-3
34
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
35
Daunorubicin Approved Phase 3 20830-81-3 30323
36
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
37
Thioguanine Approved Phase 3 154-42-7 2723601
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
39
Lenograstim Approved Phase 2, Phase 3 135968-09-1
40
Delavirdine Approved Phase 3 136817-59-9 5625
41
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
42
Zidovudine Approved Phase 3,Phase 2 30516-87-1 35370
43
Didanosine Approved Phase 3 69655-05-6 50599
44
Reboxetine Approved, Investigational Phase 3 98769-81-4, 71620-89-8 123628 65856
45
Naproxen Approved, Vet_approved Phase 3 22204-53-1 1302 156391
46
Sumatriptan Approved, Investigational Phase 3 103628-46-2 5358
47
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
48
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
49
Indinavir Approved Phase 3 150378-17-9 5362440
50
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904

Interventional clinical trials:

(show top 50) (show all 89)
id Name Status NCT ID Phase
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Torsional Phaco Study Completed NCT00781027 Phase 4
3 Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty Completed NCT01018797 Phase 4
4 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4
5 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Recruiting NCT02716597 Phase 4
6 An Open-Label, Long-term Study to Assess the Immunogenicity of Linaclotide Administered Orally to Adult Patients With Irritable Bowel Syndrome With Constipation or Chronic Idiopathic Constipation Active, not recruiting NCT02590432 Phase 4
7 Trial of Linaclotide Administered to Patients With Irritable Bowel Syndrome With Constipation Completed NCT00948818 Phase 3
8 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-d) (Protocol JNJ-27018966IBS3001) Completed NCT01553591 Phase 3
9 Study of Asimadoline to Treat Diarrhea-Predominant Irritable Bowel Syndrome (D-IBS) Completed NCT01100684 Phase 3
10 An Open-Label, Long-Term Safety Study of Linaclotide in Patients With Chronic Constipation or Irritable Bowel Syndrome With Constipation Completed NCT00765999 Phase 3
11 An Open-label, Long-term Safety Study of Linaclotide in Patients With Chronic Constipation or Irritable Bowel Syndrome With Constipation Completed NCT00730171 Phase 3
12 Irritable Bowel Syndrome With Diarrhea (IBS-D) Rifaximin Re-Treatment Study Completed NCT01543178 Phase 3
13 A Placebo-Controlled, Double-Blind Study to Confirm the Reversal of Hepatorenal Syndrome Type 1 With Terlipressin Completed NCT01143246 Phase 3
14 S9920 Busulfan Compared With Cyclophosphamide in Patients Undergoing Total-Body Irradiation Plus Peripheral Stem Cell Transplantation for Advanced Myelodysplastic Syndrome or Related Acute Myeloid Leukemia Completed NCT00005866 Phase 3
15 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
16 Evaluation of a New Cardiac Biomarker Assay Completed NCT01608100 Phase 3
17 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
18 Bone Marrow Transplantation in Treating Patients With Leukemia, Myelodysplasia, or Lymphoblastic Lymphoma Completed NCT00003187 Phase 2, Phase 3
19 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
20 A Double-Blind, Randomized, Dose Response Study of Three Doses of Delavirdine Mesylate (U-90152S) in Combination With Zidovudine (ZDV) Versus ZDV Alone in HIV-1 Infected Individuals With CD4 Counts of 200-500mm3 Completed NCT00002124 Phase 3
21 A Double-Blind, Randomized, Comparative Study of Delavirdine Mesylate (U-90152S) in Combination With Didanosine (ddI) Versus ddI Alone in HIV-1 Infected Individuals With CD4 Counts of <= 300/mm3 Completed NCT00002123 Phase 3
22 A 14-week, Multi-center Study of [S,S]-Reboxetine in Patients With Fibromyalgia. Completed NCT00612170 Phase 3
23 Menstrual Migraine Treatment With TREXIMET (Formerly Known as TREXIMA) Completed NCT00329355 Phase 3
24 Phase 3 Study of EBI-005 in Dry Eye Disease Completed NCT01998802 Phase 3
25 A Study to Evaluate Efficacy and Safety of Lifitegrast in Subjects With Dry Eye Completed NCT02284516 Phase 3
26 Intramuscular Depot Formulation of Aripiprazole as Maintenance Treatment in Patients With Schizophrenia Completed NCT00731549 Phase 3
27 A Study of Indinavir Taken With or Without DMP 266 Completed NCT00002393 Phase 3
28 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3
29 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3
30 The Plecanatide Irritable Bowel Syndrome With Constipation Study (IBS-C) Recruiting NCT02387359 Phase 3
31 Long Term Safety Study of Plecanatide Recruiting NCT02706483 Phase 3
32 Topical Ophthalmic AGN-195263 for the Treatment of Evaporative Dry Eye Recruiting NCT02815293 Phase 3
33 Safety and Efficacy of KPI-121 Compared to Placebo in Subjects With Dry Eye Disease Recruiting NCT02819284 Phase 3
34 A 12-Week Study With a 4-Week Randomized Withdrawal Period to Evaluate the Efficacy and Safety of Tenapanor for the Treatment of IBS-C Active, not recruiting NCT02621892 Phase 3
35 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Active, not recruiting NCT01884311 Phase 3
36 Long-Term Safety of Renzapride in Women With Constipation-Predominant Irritable Bowel Syndrome (IBS-C) Terminated NCT00607971 Phase 3
37 52-Week Efficacy and Safety Study of Ibodutant in Women With Irritable Bowel Syndrome With Diarrhea (IBS-D) Terminated NCT02120027 Phase 3
38 A 1-Year Study On The Effects Of CP-945,598 For The Treatment Of Obesity In Overweight Type 2 Diabetic Patients Terminated NCT00391196 Phase 3
39 Diarrhea Predominant Irritable Bowel Syndrome in Females Completed NCT00461526 Phase 2
40 A Study of 3 Doses of Dextofisopam in Females With Irritable Bowel Syndrome Completed NCT00486876 Phase 2
41 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Irritable Bowel Syndrome With Diarrhea Completed NCT01130272 Phase 2
42 Randomized, Double-blind, Dose-range-finding, Phase 2 Study of Linaclotide Administered to Patients With Irritable Bowel Syndrome With Constipation (IBS-C) Completed NCT00460811 Phase 2
43 A Study of Crofelemer to Treat Diarrhea Irritable Bowel Syndrome Completed NCT00101725 Phase 2
44 Eight-Weeks Of Treatment With Talnetant In Subjects With Irritable Bowel Syndrome (IBS) Completed NCT00101985 Phase 2
45 S0020 Immunosuppressive Therapy in Treating Patients With Myelodysplastic Syndrome Completed NCT00016419 Phase 2
46 A Prospective, Randomized, Placebo and Active Comparator Controlled Study of CP-690,550 in Subjects With Dry Eye. Completed NCT00784719 Phase 1, Phase 2
47 Study Evaluating the Safety, Tolerability, and Efficacy of Dexmecamylamine (TC-5214) for Treatment of Overactive Bladder Completed NCT01868516 Phase 2
48 Safety and Efficacy of Two Vaginal Products Versus Placebo in Patients With Vaginal Discomfort Completed NCT00590590 Phase 2
49 The Safety and Effectiveness of Nevirapine and Zidovudine, Given Separately and Together, in HIV-1 Infected Patients Who Have No Symptoms of the Disease Completed NCT00002324 Phase 2
50 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2

Search NIH Clinical Center for Corneal Endothelial Dystrophy

Cochrane evidence based reviews: iridocorneal endothelial syndrome

Genetic Tests for Corneal Endothelial Dystrophy

Anatomical Context for Corneal Endothelial Dystrophy

MalaCards organs/tissues related to Corneal Endothelial Dystrophy:

39
Endothelial, Eye

Publications for Corneal Endothelial Dystrophy

Articles related to Corneal Endothelial Dystrophy:

(show all 23)
id Title Authors Year
1
Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations. ( 26619383 )
2016
2
Descemet Stripping Automated Endothelial Keratoplasty for a Patient With Combined Fuchs Dystrophy and Corneal Ectasia-A Follow-up on Vira et al's "Descemet Stripping Endothelial Keratoplasty for Treatment of Combined Fuchs Corneal Endothelial Dystrophy and Keratoconus," Cornea 2014;33: 1-5. ( 27583801 )
2016
3
In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy. ( 27454658 )
2016
4
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. ( 26749309 )
2016
5
Planned Descemetorhexis Without Endothelial Keratoplasty in Eyes With Fuchs Corneal Endothelial Dystrophy. ( 26186374 )
2015
6
Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. ( 25811729 )
2015
7
Descemet stripping automated endothelial keratoplasty in Fuchs' corneal endothelial dystrophy: anterior segment optical coherence tomography and in vivo confocal microscopy analysis. ( 26253099 )
2015
8
Descemet stripping endothelial keratoplasty for the treatment of combined fuchs corneal endothelial dystrophy and keratoconus. ( 24240488 )
2014
9
Familial presence of early onset Fuchs' corneal endothelial dystrophy, a report of two rare cases. ( 23866526 )
2012
10
Cytomegalovirus associated corneal endotheliitis after penetrating keratoplasty in a patient with Fuchs corneal endothelial dystrophy. ( 22049489 )
2012
11
Glaucoma in patients with corneal endothelial dystrophy. ( 21912260 )
2011
12
SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. ( 20185830 )
2010
13
Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2. ( 20108384 )
2010
14
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. ( 17220209 )
2007
15
Unilateral corneal endothelial dystrophy and anterior keratoconus. ( 17534829 )
2007
16
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. ( 16825429 )
2007
17
Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience. ( 16769829 )
2006
18
Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. ( 11689488 )
2001
19
Association of fuchs' corneal endothelial dystrophy with angle-closure glaucoma. ( 19920598 )
1994
20
The association of Fuch's corneal endothelial dystrophy with angle closure glaucoma. ( 1873278 )
1991
21
The association of Fuchs's corneal endothelial dystrophy with axial hypermetropia, shallow anterior chamber, and angle closure glaucoma. ( 2132564 )
1990
22
Keratoconus associated with corneal endothelial dystrophy. ( 2078959 )
1990
23
Bullous keratopathy due to nonguttate corneal endothelial dystrophy. ( 2261183 )
1990

Variations for Corneal Endothelial Dystrophy

ClinVar genetic disease variations for Corneal Endothelial Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A11 NM_001174089.1(SLC4A11): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs121909387 GRCh37 Chromosome 20, 3209330: 3209330
2 SLC4A11 NM_001174089.1(SLC4A11): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs121909388 GRCh37 Chromosome 20, 3210904: 3210904
3 SLC4A11 NM_001174089.1(SLC4A11): c.1343G> A (p.Gly448Asp) single nucleotide variant Pathogenic rs121909389 GRCh37 Chromosome 20, 3211233: 3211233
4 SLC4A11 NM_001174089.1(SLC4A11): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs121909390 GRCh37 Chromosome 20, 3210076: 3210076
5 SLC4A11 NM_001174089.1(SLC4A11): c.305_308delAGAA (p.Lys102Thrfs) deletion Pathogenic rs869320720 GRCh38 Chromosome 20, 3234298: 3234301
6 SLC4A11 NM_001174089.1(SLC4A11): c.2557C> T (p.Arg853Cys) single nucleotide variant Pathogenic rs121909391 GRCh37 Chromosome 20, 3208906: 3208906
7 SLC4A11 NM_001174089.1(SLC4A11): c.2019-16_2019-6delinsGGCCGGCCGG indel Pathogenic rs869320617 GRCh37 Chromosome 20, 3209663: 3209673
8 SLC4A11 NM_001174089.1(SLC4A11): c.2558G> A (p.Arg853His) single nucleotide variant Pathogenic rs121909392 GRCh37 Chromosome 20, 3208905: 3208905

Expression for Corneal Endothelial Dystrophy

Search GEO for disease gene expression data for Corneal Endothelial Dystrophy.

Pathways for Corneal Endothelial Dystrophy

GO Terms for Corneal Endothelial Dystrophy

Biological processes related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.26 COL8A2 OVOL2 SAT1 TGFBI
2 visual perception GO:0007601 8.92 KRT12 TACSTD2 TGFBI VSX1

Sources for Corneal Endothelial Dystrophy

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