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MCID: CRN288
MIFTS: 38

Corneal Dystrophy, Band-Shaped

Categories: Neuronal 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: Neuronal 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 iridocyclitis and corneal edema. 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 Antibodies 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 105)
# Related Disease Score Top Affiliating Genes
1 iridocyclitis 30.6 TNFRSF1B MRAP
2 corneal edema 30.6 SLC4A11 COL8A2
3 hypopyon 30.3 TNFRSF1B MRAP
4 iritis 30.2 TNFRSF1B MRAP
5 panuveitis 29.7 TNFRSF1B MRAP
6 corneal degeneration 29.6 SLC4A7 SLC4A4 SLC4A11 MRAP COL8A2
7 renal tubular acidosis 28.9 SLC9A8 SLC9A3 SLC4A7 SLC4A4 CA2
8 corneal dystrophy, lisch epithelial 11.7
9 corneal degeneration, ribbonlike, with deafness 11.5
10 keratopathy 10.9
11 anterior scleritis 10.3 TNFRSF1B MRAP
12 scleritis 10.3 TNFRSF1B MRAP
13 juvenile ankylosing spondylitis 10.3 TNFRSF1B MRAP
14 uveitis 10.3
15 orbital plasma cell granuloma 10.3 TNFRSF1B MRAP
16 chronic orbital inflammation 10.3 TNFRSF1B MRAP
17 disseminated chorioretinitis 10.3 TNFRSF1B MRAP
18 chorioretinitis 10.3 TNFRSF1B MRAP
19 optic papillitis 10.3 TNFRSF1B MRAP
20 ankylosing spondylitis 3 10.3 TNFRSF1B MRAP
21 inflammatory diarrhea 10.3 SLC9A8 SLC9A3
22 aortitis 10.3 TNFRSF1B MRAP
23 meconium ileus 10.3 SLC9A3 SLC4A4
24 tenosynovitis 10.3 TNFRSF1B MRAP
25 pustulosis of palm and sole 10.3 TNFRSF1B MRAP
26 chondromalacia 10.3 TNFRSF1B MRAP
27 scleral disease 10.3 TNFRSF1B MRAP
28 bursitis 10.3 TNFRSF1B MRAP
29 enthesopathy 10.3 TNFRSF1B MRAP
30 corneal dystrophy, endothelial, x-linked 10.3 SLC4A11 COL8A2
31 interstitial keratitis 10.3 MRAP COL8A2
32 secondary corneal edema 10.2 SLC4A11 COL8A2
33 sapho syndrome 10.2 TNFRSF1B MRAP
34 corneal dystrophy, posterior polymorphous, 2 10.2 SLC4A11 COL8A2
35 keratitis, hereditary 10.2
36 corneal degeneration, band-shaped spheroid 10.2
37 corneal dystrophy, posterior polymorphous, 3 10.2 SLC4A11 COL8A2
38 choroiditis 10.2 TNFRSF1B MRAP
39 irregular astigmatism 10.2 SLC4A11 COL8A2
40 tendinitis 10.2 TNFRSF1B MRAP
41 branchiootorenal syndrome 1 10.1 SLC4A5 SLC4A4 SLC4A11
42 intraocular pressure quantitative trait locus 10.1
43 hyperparathyroidism 10.1
44 macular dystrophy, dominant cystoid 10.1 TNFRSF1B MRAP
45 macular dystrophy, corneal 10.1 SLC4A11 COL8A2
46 corneal dystrophy 10.1
47 epithelial and subepithelial dystrophy 10.1 SLC4A11 COL8A2
48 retinal vasculitis 10.1 TNFRSF1B MRAP
49 retinal detachment 10.1
50 corneal dystrophy, gelatinous drop-like 10.1

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 CA2 CTNS MRAP SLC4A10 SLC4A11 SLC4A4
2 endocrine/exocrine gland MP:0005379 9.87 CA2 MRAP SLC4A5 SLC9A3 SLC9A8 TNFRSF1B
3 digestive/alimentary MP:0005381 9.85 CA2 SLC4A4 SLC9A3 SLC9A8 TNFRSF1B WDR11
4 renal/urinary system MP:0005367 9.76 CA2 CTNS SLC4A11 SLC4A4 SLC4A5 SLC9A3
5 skeleton MP:0005390 9.56 CA2 CTNS SLC4A10 SLC4A11 SLC4A4 SLC4A7
6 vision/eye MP:0005391 9.23 COL8A2 CTNS 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 7)
# 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 Antibodies, Monoclonal Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3
5 Immunoglobulins Phase 2, Phase 3
6 Pharmaceutical Solutions Phase 1, Phase 2
7 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 Active, not 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 317)
# 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). 61 54
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
The 3-year outcomes of corneal tattooing for severely disfigured corneas. 61
32297049 2020
5
Silicone Oil-Associated Extensive Intraocular Ossification: A case report. 61
32498551 2020
6
Vogt-Koyanagi-Harada Syndrome in Brazilian Children. 61
31120768 2020
7
Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese. 61
31618754 2020
8
VISUAL AND ANATOMIC OUTCOMES OF PEDIATRIC ENDOSCOPIC VITRECTOMY IN 326 CASES. 61
32091489 2020
9
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 61
28820764 2020
10
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020
11
Demographic and Clinical Features of Pediatric Uveitis in Israel. 61
30332547 2020
12
Predictability of intraocular lens power calculation in eyes after phototherapeutic keratectomy. 61
31691031 2020
13
An update on the modern management of paediatric uveitis. 61
31272956 2019
14
Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity. 61
31153950 2019
15
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 61
31277131 2019
16
Association of toll-like receptor 10 polymorphisms with paediatric idiopathic uveitis in Han Chinese. 61
31272954 2019
17
Patterns of uveitis in children according to age: comparison of visual outcomes and complications in a tertiary center. 61
31248388 2019
18
Case Report of a 4-Year-Old Child with Complicated Vogt-Koyanagi-Harada at a Tertiary Eye Hospital. 61
31543672 2019
19
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. 61
29280939 2019
20
Penetrating keratoplasty in patients with traumatic corneal scarring. 61
30892664 2019
21
Complications in Intermediate Uveitis: Prevalence, Time of Onset, and Effects on Vision in Short-Term and Long-Term Follow-Up. 61
29370567 2019
22
Band keratopathy developing after denosumab injections. 61
31327935 2019
23
Chronic and recurrent non-infectious paediatric-onset uveitis: a French cohort. 61
31452929 2019
24
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 61
30222716 2019
25
Superficial keratectomy: indications and outcomes. 61
30502977 2018
26
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. 61
29671668 2018
27
Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty. 61
29668572 2018
28
"Off-the-Shelf" K2-EDTA for Calcific Band Keratopathy. 61
29489518 2018
29
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
30
Pediatric Uveitis. 61
29682916 2018
31
[Femtosecond laser-assisted keratoplasty]. 61
29681179 2018
32
Iris reconstruction using artificial iris prosthesis for management of aniridia. 61
28574137 2018
33
Removal of calcific band keratopathy without ethylenediaminetetraacetic acid (EDTA) in eyes with limited visual potential. 61
30319241 2018
34
EDTA chelation for symptomatic band keratopathy: results and recurrence. 61
29192681 2018
35
Clinical histopathology of intrachoroidal splitting in open-globe injury: A retrospective case series of four patients. 61
29675348 2018
36
Update on the Treatment of Uveitis in Patients with Juvenile Idiopathic Arthritis: A Review. 61
29143927 2017
37
Effect of Scattering and Aberrations on Visual Acuity for Band Keratopathy. 61
29035922 2017
38
Juvenile idiopathic arthritis-associated uveitis. 61
29773271 2017
39
LONG-TERM RESULTS OF TOTAL RETINECTOMY IN CASES WITH ADVANCED PROLIFERATIVE VITREORETINOPATHY. 61
27828913 2017
40
Retinal features in Mulvihill-Smith syndrome. 61
27268268 2017
41
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
42
Uveitis Associated with Juvenile Idiopathic Arthritis, our Observations. 61
28428675 2017
43
Comparison of corneal degeneration and calcific band keratopathy from 2000 to 2013 in 69 horses. 61
26773714 2017
44
Controversies in intraocular lens implantation in pediatric uveitis. 61
27009616 2016
45
Erlotinib-associated severe bilateral recalcitrant keratouveitis after corneal EDTA chelation. 61
29503911 2016
46
Optical coherence tomography of band keratopathy. 61
28039348 2016
47
Ocular morbidities of juvenile idiopathic arthritis-associated uveitis in adulthood: results from a tertiary center study. 61
27084082 2016
48
Current Treatment Modalities of JIA-associated Uveitis and its Complications: Literature Review. 61
26765345 2016
49
SILICONE OIL BARRIER SUTURES IN APHAKIC EYES WITH IRIS DEFECTS. 61
26562566 2016
50
Risk of Band Keratopathy in Patients with End-Stage Renal Disease. 61
27346848 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
 12.83 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A10
2
Bile secretion 36
10.88 SLC9A3 SLC4A5 SLC4A4 CA2
3
Proximal tubule bicarbonate reclamation 36
10.49 SLC9A3 SLC4A4 CA2
Sources

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 10.07 TNFRSF1B SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4
2 membrane GO:0016020 10.07 WDR11 TNFRSF1B SLC9A8 SLC9A3 SLC4A7 SLC4A5
3 plasma membrane GO:0005886 10.02 TNFRSF1B SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
4 apical plasma membrane GO:0016324 9.55 SLC9A3 SLC4A7 SLC4A5 SLC4A11 SLC4A10
5 basolateral plasma membrane GO:0016323 9.35 SLC4A7 SLC4A4 SLC4A11 SLC4A10 CA2
6 cell GO:0005623 9.28 WDR11 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4

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 10.03 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
2 transmembrane transport GO:0055085 9.89 SLC9A8 SLC9A3 SLC4A7 SLC4A4 CTNS
3 sodium ion transport GO:0006814 9.87 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
4 inorganic anion transport GO:0015698 9.8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
5 proton transmembrane transport GO:1902600 9.78 SLC9A8 SLC9A3 SLC4A11 SLC4A10
6 anion transport GO:0006820 9.77 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
7 bicarbonate transport GO:0015701 9.73 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10 CA2
8 sodium ion transmembrane transport GO:0035725 9.7 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
9 regulation of pH GO:0006885 9.63 SLC9A8 SLC9A3 SLC4A10
10 anion transmembrane transport GO:0098656 9.5 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
11 regulation of intracellular pH GO:0051453 9.23 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11

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 9.62 SLC4A7 SLC4A4 SLC4A11 SLC4A10
2 antiporter activity GO:0015297 9.54 SLC9A8 SLC9A3 SLC4A10
3 solute:proton antiporter activity GO:0015299 9.46 SLC9A8 SLC9A3
4 anion transmembrane transporter activity GO:0008509 9.46 SLC4A7 SLC4A5 SLC4A4 SLC4A10
5 sodium:proton antiporter activity GO:0015385 9.43 SLC9A8 SLC9A3
6 anion:anion antiporter activity GO:0015301 9.43 SLC4A5 SLC4A11 SLC4A10
7 potassium:proton antiporter activity GO:0015386 9.4 SLC9A8 SLC9A3
8 sodium:bicarbonate symporter activity GO:0008510 9.26 SLC4A7 SLC4A5 SLC4A4 SLC4A10
9 inorganic anion exchanger activity GO:0005452 9.02 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
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Sources for Corneal Dystrophy, Band-Shaped

About this section
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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