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MCID: CRN288
MIFTS: 30

Corneal Dystrophy, Band-Shaped

Categories: Eye diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Corneal Dystrophy, Band-Shaped

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MalaCards integrated aliases for Corneal Dystrophy, Band-Shaped:

Name: Corneal Dystrophy, Band-Shaped 57 44 72
Band Keratopathy 57 12 55 15
Band-Shaped Keratopathy 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
corneal dystrophy, band-shaped:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:11164
OMIM 57 217500
ICD9CM 35 371.43
MeSH 44 C562399
NCIt 50 C118765
SNOMED-CT 68 35055000
ICD10 33 H18.42
MedGen 42 C0155120
UMLS 72 C0155120
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Summaries for Corneal Dystrophy, Band-Shaped

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MalaCards based summary : Corneal Dystrophy, Band-Shaped, also known as band keratopathy, is related to corneal degeneration and hypopyon. An important gene associated with Corneal Dystrophy, Band-Shaped is SLC4A4 (Solute Carrier Family 4 Member 4). The drugs Adalimumab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotype is band-shaped corneal dystrophy.

More information from OMIM: 217500
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Related Diseases for Corneal Dystrophy, Band-Shaped

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Diseases related to Corneal Dystrophy, Band-Shaped via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 corneal degeneration 29.5 VSX1 SLC4A4
2 hypopyon 29.2 MRAP EPHA5
3 corneal dystrophy, lisch epithelial 11.7
4 corneal degeneration, ribbonlike, with deafness 11.5
5 keratopathy 10.9
6 uveitis 10.3
7 keratitis, hereditary 10.2
8 corneal degeneration, band-shaped spheroid 10.2
9 anterior uveitis 10.2
10 intraocular pressure quantitative trait locus 10.1
11 corneal edema 10.1
12 hyperparathyroidism 10.1
13 corneal dystrophy 10.1
14 retinal detachment 10.1
15 corneal dystrophy, gelatinous drop-like 10.1
16 microvascular complications of diabetes 3 10.1
17 microvascular complications of diabetes 4 10.1
18 microvascular complications of diabetes 6 10.1
19 microvascular complications of diabetes 7 10.1
20 facial hemiatrophy 10.1
21 ocular hypertension 10.1
22 exudative vitreoretinopathy 1 10.0
23 sarcoidosis 1 10.0
24 branchiootic syndrome 1 10.0
25 corneal disease 10.0
26 bullous keratopathy 10.0
27 cataract 10.0
28 iridocyclitis 10.0
29 iridocorneal endothelial syndrome 10.0
30 stromal keratitis 10.0
31 spondyloarthropathy 1 9.9
32 autoimmune disease 9.9
33 corneal dystrophy, posterior polymorphous, 1 9.9
34 renal tubular acidosis, proximal 9.9
35 corpus callosum, agenesis of 9.9
36 hydrops, lactic acidosis, and sideroblastic anemia 9.9
37 exanthem 9.9
38 keratoconus 9.9
39 hypoparathyroidism 9.9
40 keratomalacia 9.9
41 alternating exotropia 9.9
42 exotropia 9.9
43 corneal deposit 9.9
44 fuchs' endothelial dystrophy 9.9
45 blind hypotensive eye 9.9
46 panuveitis 9.9
47 inflammatory spondylopathy 9.9
48 posterior uveitis 9.9
49 gout 9.9
50 iritis 9.9

Graphical network of the top 20 diseases related to Corneal Dystrophy, Band-Shaped:



Diseases related to Corneal Dystrophy, Band-Shaped
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Symptoms & Phenotypes for Corneal Dystrophy, Band-Shaped

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Human phenotypes related to Corneal Dystrophy, Band-Shaped:

32
# Description HPO Frequency HPO Source Accession
1 band-shaped corneal dystrophy 32 HP:0007709

Symptoms via clinical synopsis from OMIM:

57
Eyes:
band-shaped corneal dystrophy

Clinical features from OMIM:

217500
Sources

Drugs & Therapeutics for Corneal Dystrophy, Band-Shaped

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 2, Phase 3 331731-18-1 16219006
2 Antibodies Phase 2, Phase 3
3 Immunologic Factors Phase 2, Phase 3
4 Antineoplastic Agents, Immunological Phase 2, Phase 3
5 Antibodies, Monoclonal Phase 2, Phase 3
6 Immunoglobulins Phase 2, Phase 3
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9 Ophthalmic Solutions Phase 1, Phase 2
10 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy of Adalimumab for the Treatment of Uveitis in Juvenile Idiopathic Arthritis: Randomized Double-blind Placebo-controlled Trial Completed NCT01385826 Phase 2, Phase 3 Anti-tumor necrosis factor alpha monoclonal antibody;placebo
2 Evaluation the Effect of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Epithelium Healing (Phase I and II Clinical Trial) Completed NCT02746848 Phase 1, Phase 2
3 Emulsification of Different Viscosity Silicone Oil After Complicated Retinal Detachment Surgery: A Randomized Double-masked Clinical Trial Completed NCT02988583
4 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523
5 An Open-label, Pilot Study to Assess the Safety, Tolerability and Preliminary Efficacy of EDTA Eye Drops on Band Keratopathy Not yet recruiting NCT03985371 Early Phase 1 EDTA Eye Drops

Search NIH Clinical Center for Corneal Dystrophy, Band-Shaped

Cochrane evidence based reviews: corneal dystrophy, band-shaped

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Genetic Tests for Corneal Dystrophy, Band-Shaped

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Anatomical Context for Corneal Dystrophy, Band-Shaped

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MalaCards organs/tissues related to Corneal Dystrophy, Band-Shaped:

41
Eye, Endothelial, Retina
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Publications for Corneal Dystrophy, Band-Shaped

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Articles related to Corneal Dystrophy, Band-Shaped:

(show top 50) (show all 310)
# Title Authors PMID Year
1
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 9 38
16636648 2006
2
Immunolocalization of electrogenic sodium-bicarbonate cotransporters pNBC1 and kNBC1 in the rat eye. 9 38
11592950 2001
3
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. 9 38
11435462 2001
4
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 38
31277131 2019
5
Association of toll-like receptor 10 polymorphisms with paediatric idiopathic uveitis in Han Chinese. 38
31272954 2019
6
An update on the modern management of paediatric uveitis. 38
31272956 2019
7
Patterns of uveitis in children according to age: comparison of visual outcomes and complications in a tertiary center. 38
31248388 2019
8
Vogt-Koyanagi-Harada Syndrome in Brazilian Children. 38
31120768 2019
9
Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity. 38
31153950 2019
10
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. 38
29280939 2019
11
Penetrating keratoplasty in patients with traumatic corneal scarring. 38
30892664 2019
12
Band keratopathy developing after denosumab injections. 38
31327935 2019
13
Complications in Intermediate Uveitis: Prevalence, Time of Onset, and Effects on Vision in Short-Term and Long-Term Follow-Up. 38
29370567 2019
14
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 38
30222716 2019
15
Superficial keratectomy: indications and outcomes. 38
30502977 2018
16
Ocular Involvement in Muckle-Wells Syndrome. 38
30556770 2018
17
Demographic and Clinical Features of Pediatric Uveitis in Israel. 38
30332547 2018
18
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. 38
29671668 2018
19
Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty. 38
29668572 2018
20
"Off-the-Shelf" K2-EDTA for Calcific Band Keratopathy. 38
29489518 2018
21
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. 38
29914390 2018
22
Pediatric Uveitis. 38
29682916 2018
23
[Femtosecond laser-assisted keratoplasty]. 38
29681179 2018
24
Iris reconstruction using artificial iris prosthesis for management of aniridia. 38
28574137 2018
25
Removal of calcific band keratopathy without ethylenediaminetetraacetic acid (EDTA) in eyes with limited visual potential. 38
30319241 2018
26
EDTA chelation for symptomatic band keratopathy: results and recurrence. 38
29192681 2018
27
Clinical histopathology of intrachoroidal splitting in open-globe injury: A retrospective case series of four patients. 38
29675348 2018
28
Update on the Treatment of Uveitis in Patients with Juvenile Idiopathic Arthritis: A Review. 38
29143927 2017
29
Effect of Scattering and Aberrations on Visual Acuity for Band Keratopathy. 38
29035922 2017
30
Juvenile idiopathic arthritis-associated uveitis. 38
29773271 2017
31
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 38
28820764 2017
32
LONG-TERM RESULTS OF TOTAL RETINECTOMY IN CASES WITH ADVANCED PROLIFERATIVE VITREORETINOPATHY. 38
27828913 2017
33
Retinal features in Mulvihill-Smith syndrome. 38
27268268 2017
34
Anti-Interleukin-6 Receptor Tocilizumab for Severe Juvenile Idiopathic Arthritis-Associated Uveitis Refractory to Anti-Tumor Necrosis Factor Therapy: A Multicenter Study of Twenty-Five Patients. 38
27696756 2017
35
Uveitis Associated with Juvenile Idiopathic Arthritis, our Observations. 38
28428675 2017
36
Comparison of corneal degeneration and calcific band keratopathy from 2000 to 2013 in 69 horses. 38
26773714 2017
37
Controversies in intraocular lens implantation in pediatric uveitis. 38
27009616 2016
38
Erlotinib-associated severe bilateral recalcitrant keratouveitis after corneal EDTA chelation. 38
29503911 2016
39
Optical coherence tomography of band keratopathy. 38
28039348 2016
40
Ocular morbidities of juvenile idiopathic arthritis-associated uveitis in adulthood: results from a tertiary center study. 38
27084082 2016
41
Current Treatment Modalities of JIA-associated Uveitis and its Complications: Literature Review. 38
26765345 2016
42
SILICONE OIL BARRIER SUTURES IN APHAKIC EYES WITH IRIS DEFECTS. 38
26562566 2016
43
Risk of Band Keratopathy in Patients with End-Stage Renal Disease. 38
27346848 2016
44
Neovascular glaucoma following Nd:YAG laser capsulotomy in a patient with diabetes and syphilitic uveitis. 38
28757727 2016
45
Randomized Trial Comparing Amniotic Membrane Transplantation with Lamellar Corneal Graft for the Treatment of Corneal Thinning. 38
26807898 2016
46
Juvenile idiopathic arthritis-associated uveitis. 38
27121190 2016
47
Uveitic band keratopathy: child and adult. 38
26590046 2015
48
Temporal change in prevalence and complications of uveitis associated with juvenile idiopathic arthritis:data from a cross-sectional analysis of a prospective nationwide study. 38
26517055 2015
49
Central islands: rate and effect on visual recovery after phototherapeutic keratectomy. 38
26289725 2015
50
Pars Planitis: Epidemiology, Clinical Characteristics, Management and Visual Prognosis. 38
27051493 2015
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Variations for Corneal Dystrophy, Band-Shaped

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Expression for Corneal Dystrophy, Band-Shaped

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Search GEO for disease gene expression data for Corneal Dystrophy, Band-Shaped.
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Pathways for Corneal Dystrophy, Band-Shaped

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GO Terms for Corneal Dystrophy, Band-Shaped

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Biological processes related to Corneal Dystrophy, Band-Shaped according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron development GO:0048666 8.62 VSX1 EPHA5
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Sources for Corneal Dystrophy, Band-Shaped

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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