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MCID: CRN288
MIFTS: 38

Corneal Dystrophy, Band-Shaped

Categories: Eye diseases
Genes Tissues Related diseases Publications Pathways 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 56 43 71
Band Keratopathy 56 12 54 15
Band-Shaped Keratopathy 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
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 56 217500
ICD9CM 34 371.43
MeSH 43 C562399
NCIt 49 C118765
SNOMED-CT 67 35055000
ICD10 32 H18.42
MedGen 41 C0155120
SNOMED-CT via HPO 68 258211005
UMLS 71 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 edema and iridocyclitis. An important gene associated with Corneal Dystrophy, Band-Shaped is SLC4A4 (Solute Carrier Family 4 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. The drugs Adalimumab and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are band-shaped corneal dystrophy and homeostasis/metabolism

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 94)
# Related Disease Score Top Affiliating Genes
1 corneal edema 30.6 SLC4A11 COL8A2
2 iridocyclitis 30.1 TNFRSF1B MRAP
3 hypopyon 29.7 TNFRSF1B MRAP
4 iritis 29.7 TNFRSF1B MRAP
5 corneal degeneration 29.6 SLC4A7 SLC4A4 SLC4A11 MRAP COL8A2
6 panuveitis 29.2 TNFRSF1B MRAP
7 renal tubular acidosis 29.1 SLC9A8 SLC9A3 SLC4A7 SLC4A4 SLC4A2
8 corneal dystrophy, lisch epithelial 11.7
9 corneal degeneration, ribbonlike, with deafness 11.5
10 keratopathy 10.9
11 uveitis 10.3
12 secondary corneal edema 10.3 SLC4A11 COL8A2
13 corneal dystrophy, posterior polymorphous, 2 10.3 SLC4A11 COL8A2
14 corneal dystrophy, endothelial, x-linked 10.3 SLC4A11 COL8A2
15 diarrhea 1, secretory chloride, congenital 10.2 SLC9A8 SLC9A3
16 keratitis, hereditary 10.2
17 meconium ileus 10.2 SLC9A3 SLC4A4
18 corneal degeneration, band-shaped spheroid 10.2
19 corneal dystrophy, posterior polymorphous, 3 10.2 SLC4A11 COL8A2
20 inflammatory diarrhea 10.2 SLC9A8 SLC9A3
21 irregular astigmatism 10.2 SLC4A11 COL8A2
22 epithelial and subepithelial dystrophy 10.2 SLC4A11 COL8A2
23 intraocular pressure quantitative trait locus 10.1
24 hyperparathyroidism 10.1
25 corneal dystrophy 10.1
26 retinal detachment 10.1
27 corneal dystrophy, gelatinous drop-like 10.1
28 microvascular complications of diabetes 3 10.1
29 microvascular complications of diabetes 4 10.1
30 microvascular complications of diabetes 6 10.1
31 microvascular complications of diabetes 7 10.1
32 facial hemiatrophy 10.1
33 ocular hypertension 10.1
34 corneal endothelial dystrophy 10.1 SLC4A4 SLC4A11 COL8A2
35 exudative vitreoretinopathy 1 10.0
36 sarcoidosis 1 10.0
37 branchiootic syndrome 1 10.0
38 corneal disease 10.0
39 bullous keratopathy 10.0
40 cataract 10.0
41 iridocorneal endothelial syndrome 10.0
42 stromal dystrophy 10.0 SLC4A11 COL8A2
43 scleromalacia perforans 10.0 TNFRSF1B MRAP
44 disseminated chorioretinitis 10.0 TNFRSF1B MRAP
45 chorioretinitis 10.0 TNFRSF1B MRAP
46 juvenile ankylosing spondylitis 10.0 TNFRSF1B MRAP
47 chronic orbital inflammation 10.0 TNFRSF1B MRAP
48 anterior scleritis 10.0 TNFRSF1B MRAP
49 scleritis 10.0 TNFRSF1B MRAP
50 corneal dystrophy, fleck 10.0 SLC4A11 COL8A2

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:

31
# Description HPO Frequency HPO Source Accession
1 band-shaped corneal dystrophy 31 HP:0007709

Symptoms via clinical synopsis from OMIM:

56
Eyes:
band-shaped corneal dystrophy

Clinical features from OMIM:

217500

MGI Mouse Phenotypes related to Corneal Dystrophy, Band-Shaped:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 FBLN7 MRAP SLC4A10 SLC4A11 SLC4A2 SLC4A4
2 endocrine/exocrine gland MP:0005379 9.87 AHCYL1 MRAP SLC4A2 SLC4A5 SLC9A3 SLC9A8
3 digestive/alimentary MP:0005381 9.85 AHCYL1 SLC4A2 SLC4A4 SLC9A3 SLC9A8 TNFRSF1B
4 renal/urinary system MP:0005367 9.63 FBLN7 SLC4A11 SLC4A4 SLC4A5 SLC9A3 TNFRSF1B
5 skeleton MP:0005390 9.5 AHCYL1 SLC4A10 SLC4A11 SLC4A2 SLC4A4 SLC4A7
6 vision/eye MP:0005391 9.17 AHCYL1 COL8A2 SLC4A11 SLC4A4 SLC4A7 SLC9A8
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 Anti-Inflammatory Agents Phase 2, Phase 3
3 Antibodies, Monoclonal Phase 2, Phase 3
4 Antineoplastic Agents, Immunological Phase 2, Phase 3
5 Immunoglobulins Phase 2, Phase 3
6 Antirheumatic Agents Phase 2, Phase 3
7 Antibodies Phase 2, Phase 3
8 Immunologic Factors Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 1, Phase 2
10 Ophthalmic 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:

40
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 314)
# 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). 54 61
16636648 2006
2
Immunolocalization of electrogenic sodium-bicarbonate cotransporters pNBC1 and kNBC1 in the rat eye. 54 61
11592950 2001
3
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. 54 61
11435462 2001
4
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 61
28820764 2020
5
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020
6
Demographic and Clinical Features of Pediatric Uveitis in Israel. 61
30332547 2020
7
Predictability of intraocular lens power calculation in eyes after phototherapeutic keratectomy. 61
31691031 2020
8
An update on the modern management of paediatric uveitis. 61
31272956 2019
9
Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese. 61
31618754 2019
10
Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity. 61
31153950 2019
11
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 61
31277131 2019
12
Association of toll-like receptor 10 polymorphisms with paediatric idiopathic uveitis in Han Chinese. 61
31272954 2019
13
Patterns of uveitis in children according to age: comparison of visual outcomes and complications in a tertiary center. 61
31248388 2019
14
Vogt-Koyanagi-Harada Syndrome in Brazilian Children. 61
31120768 2019
15
Case Report of a 4-Year-Old Child with Complicated Vogt-Koyanagi-Harada at a Tertiary Eye Hospital. 61
31543672 2019
16
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. 61
29280939 2019
17
Penetrating keratoplasty in patients with traumatic corneal scarring. 61
30892664 2019
18
Complications in Intermediate Uveitis: Prevalence, Time of Onset, and Effects on Vision in Short-Term and Long-Term Follow-Up. 61
29370567 2019
19
Band keratopathy developing after denosumab injections. 61
31327935 2019
20
Chronic and recurrent non-infectious paediatric-onset uveitis: a French cohort. 61
31452929 2019
21
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 61
30222716 2019
22
Superficial keratectomy: indications and outcomes. 61
30502977 2018
23
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. 61
29671668 2018
24
Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty. 61
29668572 2018
25
"Off-the-Shelf" K2-EDTA for Calcific Band Keratopathy. 61
29489518 2018
26
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. 61
29914390 2018
27
Pediatric Uveitis. 61
29682916 2018
28
[Femtosecond laser-assisted keratoplasty]. 61
29681179 2018
29
Iris reconstruction using artificial iris prosthesis for management of aniridia. 61
28574137 2018
30
Removal of calcific band keratopathy without ethylenediaminetetraacetic acid (EDTA) in eyes with limited visual potential. 61
30319241 2018
31
EDTA chelation for symptomatic band keratopathy: results and recurrence. 61
29192681 2018
32
Clinical histopathology of intrachoroidal splitting in open-globe injury: A retrospective case series of four patients. 61
29675348 2018
33
Update on the Treatment of Uveitis in Patients with Juvenile Idiopathic Arthritis: A Review. 61
29143927 2017
34
Effect of Scattering and Aberrations on Visual Acuity for Band Keratopathy. 61
29035922 2017
35
Juvenile idiopathic arthritis-associated uveitis. 61
29773271 2017
36
LONG-TERM RESULTS OF TOTAL RETINECTOMY IN CASES WITH ADVANCED PROLIFERATIVE VITREORETINOPATHY. 61
27828913 2017
37
Retinal features in Mulvihill-Smith syndrome. 61
27268268 2017
38
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. 61
27696756 2017
39
Uveitis Associated with Juvenile Idiopathic Arthritis, our Observations. 61
28428675 2017
40
Comparison of corneal degeneration and calcific band keratopathy from 2000 to 2013 in 69 horses. 61
26773714 2017
41
Controversies in intraocular lens implantation in pediatric uveitis. 61
27009616 2016
42
Erlotinib-associated severe bilateral recalcitrant keratouveitis after corneal EDTA chelation. 61
29503911 2016
43
Optical coherence tomography of band keratopathy. 61
28039348 2016
44
Ocular morbidities of juvenile idiopathic arthritis-associated uveitis in adulthood: results from a tertiary center study. 61
27084082 2016
45
Current Treatment Modalities of JIA-associated Uveitis and its Complications: Literature Review. 61
26765345 2016
46
SILICONE OIL BARRIER SUTURES IN APHAKIC EYES WITH IRIS DEFECTS. 61
26562566 2016
47
Risk of Band Keratopathy in Patients with End-Stage Renal Disease. 61
27346848 2016
48
Neovascular glaucoma following Nd:YAG laser capsulotomy in a patient with diabetes and syphilitic uveitis. 61
28757727 2016
49
Juvenile idiopathic arthritis-associated uveitis. 61
27121190 2016
50
Randomized Trial Comparing Amniotic Membrane Transplantation with Lamellar Corneal Graft for the Treatment of Corneal Thinning. 61
26807898 2016
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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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Pathways related to Corneal Dystrophy, Band-Shaped according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.63 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2
2
Bile secretion 36
10.78 SLC9A3 SLC4A5 SLC4A4 SLC4A2
3
Proximal tubule bicarbonate reclamation 36
10.52 SLC9A3 SLC4A4
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GO Terms for Corneal Dystrophy, Band-Shaped

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Cellular components related to Corneal Dystrophy, Band-Shaped according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.02 TNFRSF1B SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4
2 plasma membrane GO:0005886 9.96 TNFRSF1B SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2
3 cell GO:0005623 9.56 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2
4 basolateral plasma membrane GO:0016323 9.55 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10
5 apical plasma membrane GO:0016324 9.1 SLC9A3 SLC4A7 SLC4A5 SLC4A2 SLC4A10 AHCYL1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.01 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2
2 sodium ion transport GO:0006814 9.91 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
3 transmembrane transport GO:0055085 9.89 SLC9A8 SLC9A3 SLC4A7 SLC4A4 SLC4A2
4 bicarbonate transport GO:0015701 9.8 SLC4A7 SLC4A5 SLC4A4 SLC4A2 SLC4A11 SLC4A10
5 proton transmembrane transport GO:1902600 9.76 SLC9A8 SLC9A3 SLC4A11 SLC4A10
6 inorganic anion transport GO:0015698 9.73 SLC4A7 SLC4A5 SLC4A4 SLC4A2 SLC4A11 SLC4A10
7 sodium ion transmembrane transport GO:0035725 9.65 SLC9A8 SLC9A3 SLC4A11
8 anion transport GO:0006820 9.63 SLC4A7 SLC4A5 SLC4A4 SLC4A2 SLC4A11 SLC4A10
9 regulation of pH GO:0006885 9.61 SLC9A8 SLC9A3 SLC4A10
10 anion transmembrane transport GO:0098656 9.56 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2
11 regulation of intracellular pH GO:0051453 9.23 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A2

Molecular functions related to Corneal Dystrophy, Band-Shaped according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.67 SLC4A7 SLC4A4 SLC4A11 SLC4A10
2 antiporter activity GO:0015297 9.62 SLC9A8 SLC9A3 SLC4A2 SLC4A10
3 anion:anion antiporter activity GO:0015301 9.56 SLC4A5 SLC4A2 SLC4A11 SLC4A10
4 solute:proton antiporter activity GO:0015299 9.46 SLC9A8 SLC9A3
5 sodium:bicarbonate symporter activity GO:0008510 9.46 SLC4A7 SLC4A5 SLC4A4 SLC4A10
6 sodium:proton antiporter activity GO:0015385 9.43 SLC9A8 SLC9A3
7 potassium:proton antiporter activity GO:0015386 9.4 SLC9A8 SLC9A3
8 anion transmembrane transporter activity GO:0008509 9.35 SLC4A7 SLC4A5 SLC4A4 SLC4A2 SLC4A10
9 inorganic anion exchanger activity GO:0005452 9.1 SLC4A7 SLC4A5 SLC4A4 SLC4A2 SLC4A11 SLC4A10
Sources

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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