MCID: LMB050
MIFTS: 47

Limbal Stem Cell Deficiency

Categories: Rare diseases

Aliases & Classifications for Limbal Stem Cell Deficiency

MalaCards integrated aliases for Limbal Stem Cell Deficiency:

Name: Limbal Stem Cell Deficiency 39 60 56 74

Characteristics:

Orphanet epidemiological data:

60
limbal stem cell deficiency
Prevalence: 1-9/100000 (Europe);

Classifications:



External Ids:

UMLS via Orphanet 75 C1561989
Orphanet 60 ORPHA171673
UMLS 74 C1561989

Summaries for Limbal Stem Cell Deficiency

MalaCards based summary : Limbal Stem Cell Deficiency is related to corneal disease and corneal granular dystrophy. An important gene associated with Limbal Stem Cell Deficiency is KRT3 (Keratin 3), and among its related pathways/superpathways are Cytoskeletal Signaling and CLEC7A (Dectin-1) signaling. The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Eye, eye and bone, and related phenotypes are immune system and digestive/alimentary

Wikipedia : 77 Limbal stem cells, also known as corneal epithelial stem cells, are stem cells located in the basal... more...

Related Diseases for Limbal Stem Cell Deficiency

Diseases related to Limbal Stem Cell Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 corneal disease 30.6 IL1A KRT12 KRT3
2 corneal granular dystrophy 10.4 KRT12 KRT3
3 epithelial and subepithelial dystrophy 10.4 KRT12 KRT3
4 hymenolepiasis 10.3 ICAM1 KRT3
5 predominantly cortical thymoma 10.3 KRT14 KRT19
6 ameloblastic carcinoma 10.3 KRT14 TP63
7 keratitis, hereditary 10.3
8 burns 10.3
9 corneal neovascularization 10.3
10 syringoma 10.3 MUC1 TP63
11 anal gland adenocarcinoma 10.3 KRT19 MUC5AC
12 anus adenocarcinoma 10.2 KRT19 MUC5AC
13 embryoma 10.2 KRT14 KRT19
14 cervical clear cell adenocarcinoma 10.2 KRT14 KRT19
15 epidermolysis bullosa 10.2
16 spiradenoma 10.2 KRT14 MUC1
17 papilloma 10.2 KRT13 KRT14 TP63
18 odontoma 10.2 KRT14 KRT19
19 white sponge nevus 1 10.2 KRT13 KRT14 KRT19
20 focal segmental glomerulosclerosis 1 10.2 ICAM1 IL1B
21 diversion colitis 10.2 ICAM1 IL1B
22 alopecia 10.2 GJA1 KRT14 TP63
23 adenomyoma 10.2 MUC1 MUC4
24 breast mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
25 cortical thymoma 10.2 ICAM1 VCAM1
26 polycystic liver disease 1 with or without kidney cysts 10.2 KRT13 KRT19 MUC1
27 spindle cell carcinoma 10.2 KRT14 MUC1 TP63
28 solid adenocarcinoma with mucin production 10.2 MUC1 MUC5AC
29 lymphocytic vasculitis 10.2 ICAM1 VCAM1
30 cap polyposis 10.2 MUC4 MUC5AC
31 sarcomatoid mesothelioma 10.2 MUC1 MUC4
32 pleomorphic adenoma 10.2 KRT14 MUC1 TP63
33 anal canal adenocarcinoma 10.1 KRT19 MUC5AC
34 mooren's ulcer 10.1 ICAM1 VCAM1
35 chronic follicular conjunctivitis 10.1 IL1A IL1B
36 bile duct cystadenocarcinoma 10.1 MUC1 MUC5AC
37 shwartzman phenomenon 10.1 ICAM1 VCAM1
38 severe cutaneous adverse reaction 10.1
39 dyskeratosis congenita 10.1
40 keratoconjunctivitis 10.1
41 vernal keratoconjunctivitis 10.1
42 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
43 mucinous tubular and spindle renal cell carcinoma 10.1 KRT19 MUC1 MUC4
44 adenosquamous carcinoma 10.1 MUC1 MUC4 TP63
45 cholesteatoma of middle ear 10.1 ICAM1 IL1A KRT13
46 biliary papillomatosis 10.1 KRT19 MUC1 MUC5AC
47 bile duct adenocarcinoma 10.1 KRT19 MUC1 MUC5AC
48 subendocardial myocardial infarction 10.0 ICAM1 VCAM1
49 lipoadenoma 10.0 KRT14 KRT19 MUC1 TP63
50 irritant dermatitis 10.0 IL1A IL1B

Graphical network of the top 20 diseases related to Limbal Stem Cell Deficiency:



Diseases related to Limbal Stem Cell Deficiency

Symptoms & Phenotypes for Limbal Stem Cell Deficiency

MGI Mouse Phenotypes related to Limbal Stem Cell Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.91 GJA1 ICAM1 IL1A IL1B KRT14 MUC5AC
2 digestive/alimentary MP:0005381 9.8 ICAM1 KRT14 KRT19 MUC5AC SFN TP63
3 integument MP:0010771 9.76 GJA1 ICAM1 IL1A IL1B KRT14 KRT19
4 neoplasm MP:0002006 9.5 ICAM1 IL1A IL1B KRT14 KRT19 SFN
5 vision/eye MP:0005391 9.17 GJA1 ICAM1 KRT12 KRT14 MUC5AC SFN

Drugs & Therapeutics for Limbal Stem Cell Deficiency

Drugs for Limbal Stem Cell Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1
3
Glycolic acid Approved, Investigational Not Applicable 79-14-1 757
4 Fibrin Tissue Adhesive Not Applicable

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Autologous Cultivated Limbal Stem Cells Transplantation (ACLSCT) for Restoration of Corneal Epithelium in Patients With Limbal Stem Cell Deficiency Recruiting NCT02577861 Phase 4
2 Ocular Surface Reconstruction With Cultivated Autologus Mucosal Epithelial Transplantation Unknown status NCT01942421 Phase 2, Phase 3
3 Multicenter Study of CAOMECS Transplantation to Patients With Total Limbal Stem Cell Deficiency Withdrawn NCT01489501 Phase 3
4 Transplantation of Autologous Oral Mucosal Epithelial Stem Cell Sheet for Treating Limbal Stem Cell Deficiency Disease Unknown status NCT03015779 Phase 1, Phase 2
5 Transplantation of Autologous Oral Mucosal Epithelial Sheets for Limbal Stem-cell Deficiency Unknown status NCT02415218 Phase 1, Phase 2
6 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
7 Autologous Transplantation of Cultivated Limbal Stem Cells on Amniotic Membrane in Limbal Stem Cell Deficiency (LSD) Patients Completed NCT00736307 Phase 1, Phase 2
8 Autologous Cultured Corneal Epithelium (CECA) for the Treatment of Limbal Stem Cell Deficiency Recruiting NCT01756365 Phase 1, Phase 2
9 Safety and Feasibility of CALEC for LSCD Recruiting NCT02592330 Phase 1, Phase 2
10 Allogeneic ABCB5-positive Limbal Stem Cells for Treatment of LSCD Recruiting NCT03549299 Phase 1, Phase 2
11 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
12 Cultivated Autologous Oral Mucosal Epithelial Transplantation for the Treatment of Ocular Surface Diseases Active, not recruiting NCT02739113 Phase 1, Phase 2
13 Cultured Autologous Oral Mucosa Epithelial Sheet for the Treatment of Bilateral Limbal Stem Cell Deficiency Not yet recruiting NCT03949881 Phase 1, Phase 2
14 Transplantation of Cultivated Limbal Epithelium on Amniotic Membrane for Limbal Stem Cell Deficiency Suspended NCT00348114 Phase 2
15 The Improvement of Limbal Stem Cell Deficiency (LSCD) in Unilateral Stem Cell Damage by Amniotic Membrane Extract Eye Drop (AMEED) Completed NCT02649621 Phase 1
16 Cultivated Autologous Oral Mucosal Epithelial Transplantation Recruiting NCT03943797 Phase 1
17 Stem Cell Therapy for Limbal Stem Cell Deficiency Not yet recruiting NCT03957954 Phase 1
18 Autologous Oral Mucosa Transplantation for Limbal Stem Cell Deficiency Completed NCT03226015
19 Biodegradable Synthetic Scaffold as a Substitute for hAM in Limbal Epithelial Cells Transplant in LSCD Patients Completed NCT02568527 Not Applicable
20 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
21 Corneal Epithelial Allograft From Living-related Donor for LSCD Recruiting NCT03217435 Not Applicable
22 Corneal Epithelial Autograft for LSCD Recruiting NCT03217487 Not Applicable
23 Follow-up Study After ACLSCT for Restoration of Corneal Epithelium in Patients With LSCD Due to Ocular Burns Recruiting NCT03288844
24 Multiple Noninvasive Examination Modality to Evaluate the Severity of Ocular Surface Disorders Recruiting NCT03594370
25 Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation Recruiting NCT02886611
26 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
27 Cultivated Limbal Epithelial Transplantation (CLET) for Limbal Stem Cell Deficiency (LSCD) Not yet recruiting NCT03884569
28 ABCB5 as a Prognostic Marker in Survival of Cultivated Limbal Stem Cell Transplantation Terminated NCT02579993 Not Applicable
29 Implantable Intraocular Pressure Sensor for Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548 Not Applicable

Search NIH Clinical Center for Limbal Stem Cell Deficiency

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Limbal Stem Cell Deficiency cell therapies at LifeMap Discovery.

Genetic Tests for Limbal Stem Cell Deficiency

Anatomical Context for Limbal Stem Cell Deficiency

MalaCards organs/tissues related to Limbal Stem Cell Deficiency:

42
Eye, Bone, Lung, Breast, Pancreas, Kidney, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Limbal Stem Cell Deficiency:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Limbus Epithelium Limbal Basal Epithelial Cells Affected by disease, potential therapeutic candidate

Publications for Limbal Stem Cell Deficiency

Articles related to Limbal Stem Cell Deficiency:

(show top 50) (show all 203)
# Title Authors Year
1
Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29543561 )
2019
2
Response to Modabber and Harissi-Dagher's Letter: "Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa". ( 29648915 )
2019
3
In vivo confocal microscopy indicates an inverse relationship between the sub-basal corneal plexus and the conjunctivalisation in patients with limbal stem cell deficiency. ( 29777047 )
2019
4
Acute Chemical Eye Injury and Limbal Stem Cell Deficiency-A Prospective Study in the United Kingdom. ( 30199398 )
2019
5
Corneal Limbal Stem Cell Deficiency in Children with Stevens-Johnson Syndrome. ( 30347185 )
2019
6
Classification of Limbal Stem Cell Deficiency Using Clinical and Confocal Grading. ( 30371569 )
2019
7
Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency. ( 30614902 )
2019
8
The application of human amniotic membrane in the surgical management of limbal stem cell deficiency. ( 30633967 )
2019
9
Epithelial analysis of simple limbal epithelial transplantation in limbal stem cell deficiency by in vivo confocal microscopy and impression cytology. ( 30680658 )
2019
10
Ocular Surface Reconstruction Using Circumferentially-trephined Autologous Oral Mucosal Graft Transplantation in Limbal Stem Cell Deficiency. ( 30746908 )
2019
11
Systematic review and meta-analysis investigating autograft versus allograft cultivated limbal epithelial transplantation in limbal stem cell deficiency. ( 30826943 )
2019
12
Changes in corneal expression of MUC5AC after autologous serum eyedrop treatment in patients with limbal stem cell deficiency. ( 30991857 )
2019
13
Comparison of the efficacy of different cell sources for transplantation in total limbal stem cell deficiency. ( 31004182 )
2019
14
Limbal Stem Cell Deficiency Secondary to Diffuse Non-necrotizing Anterior Scleritis: A Clinicopathological Report. ( 29794824 )
2018
15
A Case of Corneal Neovascularization Misdiagnosed as Total Limbal Stem Cell Deficiency. ( 29781927 )
2018
16
Boston-keratoprosthesis for Idiopathic Limbal Stem Cell Deficiency. ( 27937038 )
2018
17
Modified Allogenic Simple Limbal Epithelial Transplantation Followed by Keratoplasty as Treatment for Total Limbal Stem Cell Deficiency. ( 28700252 )
2018
18
The diagnosis of limbal stem cell deficiency. ( 29113917 )
2018
19
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. ( 29134474 )
2018
20
Keratolimbal allograft for limbal stem cell deficiency after severe corneal chemical injury: a systematic review. ( 29141906 )
2018
21
Limbal Stem Cell Deficiency-Demography and Underlying Causes. ( 29378178 )
2018
22
Oral Mucosal Stem Cells, Human Immature Dental Pulp Stem Cells and Hair Follicle Bulge Stem Cells as Adult Stem Cells Able to Correct Limbal Stem Cell Deficiency. ( 29473525 )
2018
23
Boston keratoprosthesis type 1 for limbal stem cell deficiency after severe chemical corneal injury: A systematic review. ( 29597010 )
2018
24
Spectral-domain Optical Coherence Tomography in Limbal Stem Cell Deficiency. A Case-Control Study. ( 29621511 )
2018
25
Visualizing the Fate of Transplanted K14-Confetti Corneal Epithelia in a Mouse Model of Limbal Stem Cell Deficiency. ( 29625489 )
2018
26
Preserving Basement Membranes during Detachment of Cultivated Oral Mucosal Epithelial Cell Sheets for the Treatment of Total Bilateral Limbal Stem Cell Deficiency. ( 29637812 )
2018
27
Human limbal niche cells are a powerful regenerative source for the prevention of limbal stem cell deficiency in a rabbit model. ( 29700361 )
2018
28
Effect of Transportation on Cultured Limbal Epithelial Sheets for Worldwide Treatment of Limbal Stem Cell Deficiency. ( 30002380 )
2018
29
Emerging Therapeutic Strategies for Limbal Stem Cell Deficiency. ( 30050691 )
2018
30
Twenty years of limbal epithelial therapy: an update on managing limbal stem cell deficiency. ( 30123847 )
2018
31
Simultaneous penetrating keratoplasty and amniotic membrane transplantation in eyes with a history of limbal stem cell deficiency. ( 30166235 )
2018
32
Clinical features and corneal optical anisotropies in a rabbit model of limbal stem cell deficiency. ( 30208140 )
2018
33
Amniotic membrane transplantation with or without autologous cultivated limbal stem cell transplantation for the management of partial limbal stem cell deficiency. ( 30410305 )
2018
34
In vivo confocal microscopy and optical coherence tomography as innovative tools for the diagnosis of limbal stem cell deficiency. ( 30458924 )
2018
35
Iatrogenic limbal stem cell deficiency following drainage surgery for glaucoma. ( 30502980 )
2018
36
Evaluation of Corneal Neovascularization Using Optical Coherence Tomography Angiography in Patients With Limbal Stem Cell Deficiency. ( 28922332 )
2017
37
Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29099638 )
2017
38
Nature and incidence of severe limbal stem cell deficiency in Australia and New Zealand. ( 27505295 )
2017
39
Safety outcomes and long-term effectiveness of ex vivo autologous cultured limbal epithelial transplantation for limbal stem cell deficiency. ( 27543289 )
2017
40
Correlation between the existence of the palisades of Vogt and limbal epithelial thickness in limbal stem cell deficiency. ( 27591548 )
2017
41
Diagnostic criteria for limbal stem cell deficiency-a systematic literature review. ( 27856177 )
2017
42
Characterization of the Corneal Subbasal Nerve Plexus in Limbal Stem Cell Deficiency. ( 27941384 )
2017
43
Paediatric idiopathic limbal stem cell deficiency. ( 28336223 )
2017
44
Simultaneous Keratolimbal Autograft and Penetrating Autokeratoplasty: A Single-Stage Procedure to Restore Monocular Vision of a Blind Patient With Limbal Stem Cell Deficiency. ( 28376025 )
2017
45
Diagnosis of corneal limbal stem cell deficiency. ( 28426441 )
2017
46
Amniotic membrane use for management of corneal limbal stem cell deficiency. ( 28426442 )
2017
47
Limbal Stem Cell Deficiency and Treatment with Stem Cell Transplantation. ( 29109898 )
2017
48
Diagnosis of limbal stem cell deficiency based on corneal epithelial thickness measured on anterior segment optical coherence tomography. ( 29133636 )
2017
49
Focal limbal stem cell deficiency associated with soft contact lens wear. ( 29217022 )
2017
50
Optical Coherence Tomography Imaging of the Palisades of Vogt to Assist Clinical Evaluation and Surgical Planning in a Case of Limbal Stem-Cell Deficiency. ( 26783982 )
2017

Variations for Limbal Stem Cell Deficiency

Expression for Limbal Stem Cell Deficiency

Search GEO for disease gene expression data for Limbal Stem Cell Deficiency.

Pathways for Limbal Stem Cell Deficiency

Pathways related to Limbal Stem Cell Deficiency according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1 12.37 GJA1 KRT13 KRT19 MUC1
2
Show member pathways
12.25 IL1B MUC1 MUC4 MUC5AC
3
Show member pathways
12.17 KRT12 KRT13 KRT14 KRT19 KRT3
4
Show member pathways
11.95 MUC1 MUC4 MUC5AC
5 11.9 ICAM1 IL1A IL1B VCAM1
6 11.86 GJA1 KRT19 TP63 VCAM1
7 11.81 ICAM1 IL1B VCAM1
8
Show member pathways
11.79 KRT13 KRT14 KRT19
9 11.79 GJA1 ICAM1 MUC1 VCAM1
10 11.75 GJA1 ICAM1 IL1A IL1B
11 11.74 ICAM1 IL1B VCAM1
12 11.69 ICAM1 IL1A IL1B
13 11.64 ICAM1 KRT14 SFN
14 11.56 ICAM1 IL1A IL1B VCAM1
15 11.38 ICAM1 IL1A IL1B
16 11.36 ICAM1 IL1B VCAM1
17 11.22 ICAM1 IL1B VCAM1
18 11.08 ICAM1 IL1A IL1B MUC1 VCAM1
19
Show member pathways
11.06 ICAM1 IL1A IL1B VCAM1
20 11.01 ICAM1 IL1B
21 10.94 IL1B VCAM1
22 10.54 ICAM1 IL1B VCAM1
23 10.37 IL1A IL1B

GO Terms for Limbal Stem Cell Deficiency

Cellular components related to Limbal Stem Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 ICAM1 IL1A IL1B MUC1 MUC4 MUC5AC
2 Golgi lumen GO:0005796 9.5 MUC1 MUC4 MUC5AC
3 keratin filament GO:0045095 9.43 KRT13 KRT14 KRT3
4 intermediate filament GO:0005882 9.43 GJA1 KRT12 KRT13 KRT14 KRT19 KRT3
5 extracellular exosome GO:0070062 9.4 ICAM1 IL1B KRT12 KRT13 KRT14 KRT19
6 cytosol GO:0005829 10.07 GJA1 IL1A IL1B KRT12 KRT13 KRT14

Biological processes related to Limbal Stem Cell Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 epithelial cell differentiation GO:0030855 9.7 KRT14 KRT3 TP63
2 response to lipopolysaccharide GO:0032496 9.67 GJA1 ICAM1 IL1B VCAM1
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.65 MUC1 MUC4 MUC5AC
4 O-glycan processing GO:0016266 9.63 MUC1 MUC4 MUC5AC
5 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.58 SFN TP63
6 establishment of skin barrier GO:0061436 9.58 SFN TP63
7 response to ionizing radiation GO:0010212 9.58 ICAM1 KRT14 VCAM1
8 positive regulation of protein export from nucleus GO:0046827 9.57 IL1B SFN
9 response to copper ion GO:0046688 9.56 ICAM1 IL1A
10 response to ethanol GO:0045471 9.55 ICAM1 VCAM1
11 cytokine-mediated signaling pathway GO:0019221 9.55 ICAM1 IL1A IL1B MUC1 VCAM1
12 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.54 IL1A IL1B
13 chronic inflammatory response GO:0002544 9.51 GJA1 VCAM1
14 ectopic germ cell programmed cell death GO:0035234 9.49 IL1A IL1B
15 membrane to membrane docking GO:0022614 9.43 ICAM1 VCAM1
16 cornification GO:0070268 9.35 KRT12 KRT13 KRT14 KRT19 KRT3
17 fever generation GO:0001660 9.32 IL1A IL1B
18 regulation of epidermal cell division GO:0010482 9.26 SFN TP63
19 keratinization GO:0031424 9.1 KRT12 KRT13 KRT14 KRT19 KRT3 SFN

Molecular functions related to Limbal Stem Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 ICAM1 IL1B VCAM1
2 interleukin-1 receptor binding GO:0005149 8.96 IL1A IL1B
3 protein domain specific binding GO:0019904 8.92 GJA1 IL1B SFN TP63

Sources for Limbal Stem Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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