MCID: CRN288
MIFTS: 36

Corneal Dystrophy, Band-Shaped

Categories: Neuronal diseases

Aliases & Classifications for Corneal Dystrophy, Band-Shaped

MalaCards integrated aliases for Corneal Dystrophy, Band-Shaped:

Name: Corneal Dystrophy, Band-Shaped 57 44 71
Band Keratopathy 57 12 54 15
Band-Shaped Keratopathy 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
corneal dystrophy, band-shaped:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11164
OMIM® 57 217500
ICD9CM 34 371.43
MeSH 44 C562399
NCIt 50 C118765
SNOMED-CT 67 35055000
ICD10 32 H18.42
MedGen 41 C0155120
SNOMED-CT via HPO 68 258211005
UMLS 71 C0155120

Summaries for Corneal Dystrophy, Band-Shaped

MalaCards based summary : Corneal Dystrophy, Band-Shaped, also known as band keratopathy, is related to corneal degeneration and renal tubular acidosis. 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 Ophthalmic Solutions and Pharmaceutical Solutions 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

Related Diseases for Corneal Dystrophy, Band-Shaped

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 corneal degeneration 29.9 SLC9A8 SLC9A3 SLC4A7 SLC4A4 SLC4A11
2 renal tubular acidosis 29.1 SLC9A3 SLC4A7 SLC4A4 CA2 CA14
3 corneal degeneration, ribbonlike, with deafness 11.2
4 keratopathy 10.9
5 uveitis 10.3
6 keratitis, hereditary 10.2
7 corneal degeneration, band-shaped spheroid 10.2
8 febrile seizures, familial, 6 10.2 SLC4A8 SLC4A7
9 corneal edema 10.2
10 iridocyclitis 10.2
11 febrile seizures, familial, 9 10.2 SLC4A8 SLC4A7
12 inflammatory diarrhea 10.1 SLC9A8 SLC9A3
13 hyperparathyroidism 10.1
14 iridocorneal endothelial syndrome 10.1
15 meconium ileus 10.1 SLC9A3 SLC4A4
16 osteopetrosis, autosomal recessive 5 10.1 SLC4A4 CA2
17 retinal detachment 10.0
18 corneal dystrophy, gelatinous drop-like 10.0
19 microvascular complications of diabetes 3 10.0
20 microvascular complications of diabetes 4 10.0
21 microvascular complications of diabetes 6 10.0
22 microvascular complications of diabetes 7 10.0
23 facial hemiatrophy 10.0
24 ocular hypertension 10.0
25 exudative vitreoretinopathy 1 10.0
26 sarcoidosis 1 10.0
27 branchiootic syndrome 1 10.0
28 intraocular pressure quantitative trait locus 10.0
29 corneal disease 10.0
30 bullous keratopathy 10.0
31 corneal dystrophy 10.0
32 fanconi syndrome 10.0 SLC9A3 SLC4A4 CTNS
33 usher syndrome, type iic 10.0 SLC4A8 SLC4A7
34 metabolic acidosis 10.0 SLC9A3 SLC4A4 CA2
35 renal tubular transport disease 10.0 SLC4A4 CTNS CA2
36 intestinal impaction 9.9 SLC9A3 SLC4A7 SLC4A5 SLC4A4
37 spondyloarthropathy 1 9.9
38 autoimmune disease 9.9
39 corneal dystrophy, posterior polymorphous, 1 9.9
40 corneal dystrophy, fuchs endothelial, 1 9.9
41 renal tubular acidosis, proximal 9.9
42 corpus callosum, agenesis of 9.9
43 exanthem 9.9
44 keratoconus 9.9
45 hypopyon 9.9
46 hypoparathyroidism 9.9
47 keratomalacia 9.9
48 alternating exotropia 9.9
49 exotropia 9.9
50 corneal deposit 9.9

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



Diseases related to Corneal Dystrophy, Band-Shaped

Symptoms & Phenotypes for Corneal Dystrophy, Band-Shaped

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®:

57 (Updated 05-Mar-2021)
Eyes:
band-shaped corneal dystrophy

Clinical features from OMIM®:

217500 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 CA14 CA2 CTNS FBLN7 SLC4A10 SLC4A11
2 renal/urinary system MP:0005367 9.61 CA2 CTNS FBLN7 SLC4A11 SLC4A4 SLC4A5
3 vision/eye MP:0005391 9.17 CA14 CTNS SLC4A11 SLC4A4 SLC4A7 SLC9A8

Drugs & Therapeutics for Corneal Dystrophy, Band-Shaped

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Early Phase 1
2 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Pilot Study to Assess the Safety, Tolerability and Preliminary Efficacy of EDTA Eye Drops on Band Keratopathy 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

Genetic Tests for Corneal Dystrophy, Band-Shaped

Anatomical Context for Corneal Dystrophy, Band-Shaped

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

40
Eye, Endothelial, Retina

Publications for Corneal Dystrophy, Band-Shaped

Articles related to Corneal Dystrophy, Band-Shaped:

(show top 50) (show all 326)
# 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. 61 54
11592950 2001
3
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. 61 54
11435462 2001
4
Ethylenediaminetetraacetic Acid Chelation in Herpes Zoster Ophthalmicus Is Associated With a High Rate of Corneal Melt and Perforation. 61
33264147 2021
5
Atypical Case of Bilateral Chandler Syndrome With Recurrent Band Keratopathy. 61
33264150 2020
6
Excimer laser-assisted phototherapeutic keratectomies combined to EDTA chelation for the treatment of calcific band keratopathy. 61
33153293 2020
7
VISUAL AND ANATOMIC OUTCOMES OF PEDIATRIC ENDOSCOPIC VITRECTOMY IN 326 CASES. 61
32091489 2020
8
Association of toll-like receptor 10 polymorphisms with paediatric idiopathic uveitis in Han Chinese. 61
31272954 2020
9
Paediatric cataract in the uveitis setting. 61
33023329 2020
10
Transepithelial phototherapeutic keratectomy for the treatment of severe band keratopathy. 61
32914278 2020
11
Laser Flare Photometry: A Useful Tool for Monitoring Patients with Juvenile Idiopathic Arthritis-associated Uveitis. 61
32835572 2020
12
The 3-year outcomes of corneal tattooing for severely disfigured corneas. 61
32297049 2020
13
Prognostic Factors for Outcome after Vitrectomy for Retinal Detachment Secondary to Cytomegalovirus Retinitis in Patients with AIDS: A Retrospective Single-center Analysis. 61
32634031 2020
14
Silicone Oil-Associated Extensive Intraocular Ossification: A case report. 61
32498551 2020
15
Management and Visual Outcomes of Acute Bacterial Endophthalmitis Following Intravitreal Injection of Contaminated Bevacizumab in a Single Day. 61
32579693 2020
16
Vogt-Koyanagi-Harada Syndrome in Brazilian Children. 61
31120768 2020
17
Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese. 61
31618754 2020
18
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 61
28820764 2020
19
Fourier-domain optical coherence tomography-guided phototherapeutic keratectomy for the treatment of anterior corneal scarring. 61
33215001 2020
20
Predictability of intraocular lens power calculation in eyes after phototherapeutic keratectomy. 61
31691031 2020
21
Demographic and Clinical Features of Pediatric Uveitis in Israel. 61
30332547 2020
22
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020
23
Long-Term Control of Macular Edema With Adalimumab After Cataract Surgery in a Japanese Child With Juvenile Idiopathic Arthritis: Case Report and Review of 26 Japanese Patients. 61
32862718 2020
24
An update on the modern management of paediatric uveitis. 61
31272956 2019
25
Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity. 61
31153950 2019
26
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 61
31277131 2019
27
Patterns of uveitis in children according to age: comparison of visual outcomes and complications in a tertiary center. 61
31248388 2019
28
Case Report of a 4-Year-Old Child with Complicated Vogt-Koyanagi-Harada at a Tertiary Eye Hospital. 61
31543672 2019
29
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. 61
29280939 2019
30
Penetrating keratoplasty in patients with traumatic corneal scarring. 61
30892664 2019
31
Band keratopathy developing after denosumab injections. 61
31327935 2019
32
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 61
30222716 2019
33
Complications in Intermediate Uveitis: Prevalence, Time of Onset, and Effects on Vision in Short-Term and Long-Term Follow-Up. 61
29370567 2019
34
Chronic and recurrent non-infectious paediatric-onset uveitis: a French cohort. 61
31452929 2019
35
Superficial keratectomy: indications and outcomes. 61
30502977 2018
36
Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty. 61
29668572 2018
37
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. 61
29671668 2018
38
"Off-the-Shelf" K2-EDTA for Calcific Band Keratopathy. 61
29489518 2018
39
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
40
Pediatric Uveitis. 61
29682916 2018
41
[Femtosecond laser-assisted keratoplasty]. 61
29681179 2018
42
Clinical histopathology of intrachoroidal splitting in open-globe injury: A retrospective case series of four patients. 61
29675348 2018
43
EDTA chelation for symptomatic band keratopathy: results and recurrence. 61
29192681 2018
44
Iris reconstruction using artificial iris prosthesis for management of aniridia. 61
28574137 2018
45
Removal of calcific band keratopathy without ethylenediaminetetraacetic acid (EDTA) in eyes with limited visual potential. 61
30319241 2018
46
Update on the Treatment of Uveitis in Patients with Juvenile Idiopathic Arthritis: A Review. 61
29143927 2017
47
Effect of Scattering and Aberrations on Visual Acuity for Band Keratopathy. 61
29035922 2017
48
Juvenile idiopathic arthritis-associated uveitis. 61
29773271 2017
49
LONG-TERM RESULTS OF TOTAL RETINECTOMY IN CASES WITH ADVANCED PROLIFERATIVE VITREORETINOPATHY. 61
27828913 2017
50
Retinal features in Mulvihill-Smith syndrome. 61
27268268 2017

Variations for Corneal Dystrophy, Band-Shaped

Expression for Corneal Dystrophy, Band-Shaped

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

Pathways for Corneal Dystrophy, Band-Shaped

GO Terms for Corneal Dystrophy, Band-Shaped

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 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
2 membrane GO:0016020 9.97 WDR11 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5
3 plasma membrane GO:0005886 9.96 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11
4 apical plasma membrane GO:0016324 9.35 SLC9A3 SLC4A7 SLC4A5 SLC4A11 SLC4A10
5 basolateral plasma membrane GO:0016323 9.02 SLC4A7 SLC4A4 SLC4A11 SLC4A10 CA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.13 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
2 transmembrane transport GO:0055085 10.11 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
3 sodium ion transport GO:0006814 9.92 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
4 anion transmembrane transport GO:0098656 9.91 SLC9A8 SLC9A3 SLC4A7 SLC4A5 SLC4A4 SLC4A11
5 anion transport GO:0006820 9.88 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
6 inorganic anion transport GO:0015698 9.83 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
7 proton transmembrane transport GO:1902600 9.81 SLC9A8 SLC9A3 SLC4A11 SLC4A10
8 sodium ion transmembrane transport GO:0035725 9.76 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
9 ion homeostasis GO:0050801 9.73 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
10 regulation of pH GO:0006885 9.67 SLC9A8 SLC9A3 SLC4A10
11 regulation of intracellular pH GO:0051453 9.56 SLC9A8 SLC9A3 SLC4A8 SLC4A7 SLC4A5 SLC4A4
12 one-carbon metabolic process GO:0006730 9.52 CA2 CA14
13 bicarbonate transport GO:0015701 9.23 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.8 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10
2 symporter activity GO:0015293 9.71 SLC4A7 SLC4A4 SLC4A11 SLC4A10
3 antiporter activity GO:0015297 9.67 SLC9A8 SLC9A3 SLC4A8 SLC4A10
4 anion:anion antiporter activity GO:0015301 9.56 SLC4A8 SLC4A5 SLC4A11 SLC4A10
5 anion transmembrane transporter activity GO:0008509 9.55 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A10
6 hydro-lyase activity GO:0016836 9.52 CA2 CA14
7 solute:proton antiporter activity GO:0015299 9.51 SLC9A8 SLC9A3
8 bicarbonate transmembrane transporter activity GO:0015106 9.49 SLC4A8 SLC4A11
9 carbonate dehydratase activity GO:0004089 9.48 CA2 CA14
10 sodium:proton antiporter activity GO:0015385 9.46 SLC9A8 SLC9A3
11 potassium:proton antiporter activity GO:0015386 9.43 SLC9A8 SLC9A3
12 sodium:bicarbonate symporter activity GO:0008510 9.35 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A10
13 inorganic anion exchanger activity GO:0005452 9.1 SLC4A8 SLC4A7 SLC4A5 SLC4A4 SLC4A11 SLC4A10

Sources for Corneal Dystrophy, Band-Shaped

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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