MCID: LMB050
MIFTS: 46

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 38 59 55 73

Characteristics:

Orphanet epidemiological data:

59
limbal stem cell deficiency
Prevalence: 1-9/100000 (Europe);

Classifications:



External Ids:

Orphanet 59 ORPHA171673
UMLS via Orphanet 74 C1561989
UMLS 73 C1561989

Summaries for Limbal Stem Cell Deficiency

MalaCards based summary : Limbal Stem Cell Deficiency is related to corneal disease and predominantly cortical thymoma. 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 Glycolic acid and Ephedrine 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 : 76 Limbal stem cells, also called 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 96)
# Related Disease Score Top Affiliating Genes
1 corneal disease 30.2 IL1A KRT12 KRT3
2 predominantly cortical thymoma 10.8 KRT14 KRT19
3 ameloblastic carcinoma 10.8 KRT14 TP63
4 hymenolepiasis 10.7 ICAM1 KRT3
5 syringoma 10.6 MUC1 TP63
6 spiradenoma 10.6 KRT14 MUC1
7 adenomyoma 10.6 MUC1 MUC4
8 lymphocytic vasculitis 10.5 ICAM1 VCAM1
9 sarcomatoid mesothelioma 10.5 MUC1 MUC4
10 cortical thymoma 10.5 ICAM1 VCAM1
11 odontoma 10.5 KRT14 KRT19
12 mooren's ulcer 10.5 ICAM1 VCAM1
13 cavernous hemangioma 10.5 KRT14 MUC1 TP63
14 pleomorphic adenoma 10.5 KRT14 MUC1 TP63
15 benign breast adenomyoepithelioma 10.5 KRT14 SFN
16 mucinous tubular and spindle renal cell carcinoma 10.5 KRT19 MUC1 MUC4
17 diversion colitis 10.5 ICAM1 IL1B
18 adenosquamous carcinoma 10.5 MUC1 MUC4 TP63
19 hypohidrosis 10.5 KRT14 TP63
20 bile duct carcinoma 10.4 KRT19 MUC1 MUC4
21 corneal granular dystrophy 10.4 KRT12 KRT3
22 alopecia 10.4 GJA1 KRT14 TP63
23 cervical clear cell adenocarcinoma 10.4 KRT14 KRT19
24 chronic follicular conjunctivitis 10.4 IL1A IL1B
25 epithelial and subepithelial dystrophy 10.4 KRT12 KRT3
26 white sponge nevus 1 10.4 KRT13 KRT14 KRT19
27 polycystic liver disease 1 with or without kidney cysts 10.3 KRT13 KRT19 MUC1
28 subendocardial myocardial infarction 10.3 ICAM1 VCAM1
29 tyrosinemia, type ii 10.3 KRT12 TP63
30 papilloma 10.3 KRT13 KRT14 TP63
31 mucositis 10.3
32 immune-complex glomerulonephritis 10.3 ICAM1 VCAM1
33 lipoadenoma 10.2 KRT14 KRT19 MUC1 TP63
34 cholesteatoma of middle ear 10.2 ICAM1 IL1A KRT13
35 adenoid cystic carcinoma 10.2 KRT14 KRT19 MUC1 TP63
36 burns 10.2
37 anal gland adenocarcinoma 10.2 KRT19 MUC5AC
38 corneal neovascularization 10.2
39 pericoronitis 10.1 IL1B VCAM1
40 anus adenocarcinoma 10.1 KRT19 MUC5AC
41 irritant dermatitis 10.1 IL1A IL1B
42 breast mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
43 contact dermatitis 10.1 ICAM1 IL1A IL1B
44 rheumatoid vasculitis 10.1 ICAM1 VCAM1
45 cap polyposis 10.1 MUC4 MUC5AC
46 intraneural perineurioma 10.0 KRT13 KRT14 KRT19 MUC1
47 actinic prurigo 10.0 ICAM1 IL1B VCAM1
48 bile duct cystadenocarcinoma 10.0 MUC1 MUC5AC
49 dyskeratosis congenita 10.0
50 epidermolysis bullosa 10.0

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:

46
# 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 ICAM1 KRT12 KRT14 MUC5AC SFN TP63

Drugs & Therapeutics for Limbal Stem Cell Deficiency

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycolic acid Approved, Investigational Phase 1 79-14-1 757
2
Ephedrine Approved Phase 1 299-42-3 9294
3
Pseudoephedrine Approved Phase 1 90-82-4 7028
4 Respiratory System Agents Phase 1
5 Nasal Decongestants Phase 1
6 Tetrahydrozoline Phase 1
7 Ophthalmic Solutions Phase 1
8 Vasoconstrictor Agents Phase 1
9 Peripheral Nervous System Agents Phase 1
10 Pharmaceutical Solutions Phase 1
11 Autonomic Agents Phase 1
12 Fibrin Tissue Adhesive Not Applicable

Interventional clinical trials:

(show all 24)
# 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 Sheets for Limbal Stem-cell Deficiency Unknown status NCT02415218 Phase 1, Phase 2
5 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
6 Autologous Transplantation of Cultivated Limbal Stem Cells on Amniotic Membrane in Limbal Stem Cell Deficiency (LSD) Patients Completed NCT00736307 Phase 1, Phase 2
7 Autologous Cultured Corneal Epithelium (CECA) for the Treatment of Limbal Stem Cell Deficiency Recruiting NCT01756365 Phase 1, Phase 2
8 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
9 Cultivated Autologous Oral Mucosal Epithelial Transplantation for the Treatment of Ocular Surface Diseases Active, not recruiting NCT02739113 Phase 1, Phase 2
10 Transplantation of Autologous Oral Mucosal Epithelial Stem Cell Sheet for Treating Limbal Stem Cell Deficiency Disease Enrolling by invitation NCT03015779 Phase 1, Phase 2
11 Allogeneic ABCB5-positive Limbal Stem Cells for Treatment of LSCD Not yet recruiting NCT03549299 Phase 1, Phase 2
12 Transplantation of Cultivated Limbal Epithelium on Amniotic Membrane for Limbal Stem Cell Deficiency Suspended NCT00348114 Phase 2
13 Biodegradable Synthetic Scaffold as a Substitute for hAM in Limbal Epithelial Cells Transplant in LSCD Patients Unknown status NCT02568527 Phase 1
14 The Improvement of Limbal Stem Cell Deficiency (LSCD) in Unilateral Stem Cell Damage by Amniotic Membrane Extract Eye Drop (AMEED) Completed NCT02649621 Phase 1
15 Safety and Feasibility of CALEC for LSCD Recruiting NCT02592330 Phase 1
16 Autologous Oral Mucosa Transplantation for Limbal Stem Cell Deficiency Completed NCT03226015
17 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
18 Corneal Epithelial Allograft From Living-related Donor for LSCD Recruiting NCT03217435 Not Applicable
19 Corneal Epithelial Autograft for LSCD Recruiting NCT03217487 Not Applicable
20 Follow-up Study After ACLSCT for Restoration of Corneal Epithelium in Patients With LSCD Due to Ocular Burns Recruiting NCT03288844
21 Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation Recruiting NCT02886611
22 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
23 ABCB5 as a Prognostic Marker in Survival of Cultivated Limbal Stem Cell Transplantation Terminated NCT02579993 Not Applicable
24 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:

41
Eye, Bone
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 Potential therapeutic candidate, affected by disease

Publications for Limbal Stem Cell Deficiency

Articles related to Limbal Stem Cell Deficiency:

(show top 50) (show all 182)
# Title Authors Year
1
Response to Modabber and Harissi-Dagher's Letter: "Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa". ( 29648915 )
2018
2
Visualizing the Fate of Transplanted K14-Confetti Corneal Epithelia in a Mouse Model of Limbal Stem Cell Deficiency. ( 29625489 )
2018
3
Letter to the Editor: Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29543561 )
2018
4
Preserving Basement Membranes during Detachment of Cultivated Oral Mucosal Epithelial Cell Sheets for the Treatment of Total Bilateral Limbal Stem Cell Deficiency. ( 29637812 )
2018
5
A Case of Corneal Neovascularization Misdiagnosed as Total Limbal Stem Cell Deficiency. ( 29781927 )
2018
6
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 )
2018
7
Limbal Stem Cell Deficiency Secondary to Diffuse Non-necrotizing Anterior Scleritis: A Clinicopathological Report. ( 29794824 )
2018
8
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
9
Limbal Stem Cell Deficiency - Demography And Underlying Causes. ( 29378178 )
2018
10
The diagnosis of limbal stem cell deficiency. ( 29113917 )
2018
11
Human limbal niche cells are a powerful regenerative source for the prevention of limbal stem cell deficiency in a rabbit model. ( 29700361 )
2018
12
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. ( 29134474 )
2018
13
Spectral-domain Optical Coherence Tomography in Limbal Stem Cell Deficiency. A Case-Control Study. ( 29621511 )
2018
14
Boston keratoprosthesis type 1 for limbal stem cell deficiency after severe chemical corneal injury: A systematic review. ( 29597010 )
2018
15
Paediatric idiopathic limbal stem cell deficiency. ( 28336223 )
2017
16
Diagnosis of limbal stem cell deficiency based on corneal epithelial thickness measured on anterior segment optical coherence tomography. ( 29133636 )
2017
17
Modified Allogenic Simple Limbal Epithelial Transplantation Followed by Keratoplasty as Treatment for Total Limbal Stem Cell Deficiency. ( 28700252 )
2017
18
Evaluation of Corneal Neovascularization Using Optical Coherence Tomography Angiography in Patients With Limbal Stem Cell Deficiency. ( 28922332 )
2017
19
Type 1 Boston Keratoprosthesis for Limbal Stem Cell Deficiency in Epidermolysis Bullosa. ( 29099638 )
2017
20
Focal limbal stem cell deficiency associated with soft contact lens wear. ( 29217022 )
2017
21
Limbal Stem Cell Deficiency and Treatment with Stem Cell Transplantation. ( 29109898 )
2017
22
Diagnosis of corneal limbal stem cell deficiency. ( 28426441 )
2017
23
Keratolimbal allograft for limbal stem cell deficiency after severe corneal chemical injury: a systematic review. ( 29141906 )
2017
24
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
25
Amniotic membrane use for management of corneal limbal stem cell deficiency. ( 28426442 )
2017
26
Correlation between the existence of the palisades of Vogt and limbal epithelial thickness in limbal stem cell deficiency. ( 27591548 )
2016
27
Stability of limbal stem cell deficiency after mechanical and thermal injuries in mice. ( 26607808 )
2016
28
Ocular surface reconstruction in limbal stem cell deficiency. ( 27220223 )
2016
29
Limbal Stem Cell Deficiency: Current Treatment Options and Emerging Therapies. ( 26788074 )
2016
30
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 )
2016
31
Boston-keratoprosthesis for Idiopathic Limbal Stem Cell Deficiency. ( 27937038 )
2016
32
Characterization of the Corneal Subbasal Nerve Plexus in Limbal Stem Cell Deficiency. ( 27941384 )
2016
33
Culture of Oral Mucosal Epithelial Cells for the Purpose of Treating Limbal Stem Cell Deficiency. ( 26938569 )
2016
34
Autologous simple limbal epithelial transplantation for unilateral limbal stem cell deficiency: multicentre results. ( 26817481 )
2016
35
Characterization of the corneal surface in limbal stem cell deficiency and after transplantation of cultured allogeneic limbal epithelial cells. ( 27313163 )
2016
36
Surgical Management of Bilateral Limbal Stem Cell Deficiency. ( 27151421 )
2016
37
Existence of Normal Limbal Epithelium in Eyes With Clinical Signs of Total Limbal Stem Cell Deficiency. ( 27362882 )
2016
38
Corneal recovery in a rabbit limbal stem cell deficiency model by autologous grafts of tertiary outgrowths from cultivated limbal biopsy explants. ( 26937166 )
2016
39
Diagnostic Criteria For Limbal Stem Cell Deficiency - A Systematic Literature Review. ( 27856177 )
2016
40
Contact Lens-induced Limbal Stem Cell Deficiency. ( 27480488 )
2016
41
A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse. ( 27911382 )
2016
42
Safety outcomes and long-term effectiveness of ex vivo autologous cultured limbal epithelial transplantation for limbal stem cell deficiency. ( 27543289 )
2016
43
Long-Term Outcomes of the Boston Type I Keratoprosthesis in the Management of Corneal Limbal Stem Cell Deficiency. ( 27387566 )
2016
44
Nature and incidence of severe limbal stem cell deficiency in Australia and New Zealand. ( 27505295 )
2016
45
Transplantation of cultured oral mucosal epithelial cells for treating limbal stem cell deficiency - current status and future perspectives. ( 25786664 )
2015
46
Limbal Stem Cell Transplantation for Soft Contact Lens Wear-Related Limbal Stem Cell Deficiency. ( 26299533 )
2015
47
Corneal limbal stem cell deficiency associated with the anticancer drug s-1. ( 25756340 )
2015
48
Regeneration of corneal epithelium utilizing a collagen vitrigel membrane in rabbit models for corneal stromal wound and limbal stem cell deficiency. ( 25495158 )
2015
49
Infectious Keratitis in Limbal Stem Cell Deficiency: Stevens-Johnson Syndrome Versus Chemical Burn. ( 26555593 )
2015
50
In vivo Confocal Microscopic Analysis of Limbal Stroma in Patients With Limbal Stem Cell Deficiency. ( 26312622 )
2015

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 24)
# 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 11.92 ICAM1 IL1A IL1B VCAM1
6 11.86 GJA1 KRT19 TP63 VCAM1
7
Show member pathways
11.81 MUC1 MUC4 MUC5AC
8
Show member pathways
11.8 KRT13 KRT14 KRT19
9 11.79 ICAM1 IL1B VCAM1
10 11.79 GJA1 ICAM1 MUC1 VCAM1
11 11.75 GJA1 ICAM1 IL1A IL1B
12 11.72 ICAM1 IL1B VCAM1
13 11.69 ICAM1 IL1A IL1B
14 11.64 ICAM1 KRT14 SFN
15 11.55 ICAM1 IL1A IL1B VCAM1
16 11.38 ICAM1 IL1A IL1B
17 11.36 ICAM1 IL1B VCAM1
18 11.18 ICAM1 IL1B VCAM1
19 11.08 ICAM1 IL1A IL1B MUC1 VCAM1
20
Show member pathways
11.06 ICAM1 IL1A IL1B VCAM1
21 11.02 ICAM1 IL1B
22 10.95 IL1B VCAM1
23 10.54 ICAM1 IL1B VCAM1
24 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 extracellular exosome GO:0070062 9.44 GJA1 ICAM1 IL1B KRT12 KRT13 KRT14
4 keratin filament GO:0045095 9.43 KRT13 KRT14 KRT3
5 intermediate filament GO:0005882 9.43 GJA1 KRT12 KRT13 KRT14 KRT19 KRT3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.72 MUC1 MUC4 MUC5AC
2 response to lipopolysaccharide GO:0032496 9.71 GJA1 ICAM1 IL1B VCAM1
3 O-glycan processing GO:0016266 9.61 MUC1 MUC4 MUC5AC
4 establishment of skin barrier GO:0061436 9.57 SFN TP63
5 positive regulation of protein export from nucleus GO:0046827 9.56 IL1B SFN
6 cytokine-mediated signaling pathway GO:0019221 9.55 ICAM1 IL1A IL1B MUC1 VCAM1
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.54 MUC1 TP63
8 response to copper ion GO:0046688 9.52 ICAM1 IL1A
9 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.51 IL1A IL1B
10 positive regulation of monocyte chemotactic protein-1 production GO:0071639 9.49 IL1A IL1B
11 chronic inflammatory response GO:0002544 9.48 GJA1 VCAM1
12 ectopic germ cell programmed cell death GO:0035234 9.46 IL1A IL1B
13 fever generation GO:0001660 9.37 IL1A IL1B
14 cornification GO:0070268 9.35 KRT12 KRT13 KRT14 KRT19 KRT3
15 membrane to membrane docking GO:0022614 9.32 ICAM1 VCAM1
16 regulation of epidermal cell division GO:0010482 9.26 SFN TP63
17 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 interleukin-1 receptor binding GO:0005149 9.16 IL1A IL1B
2 integrin binding GO:0005178 9.13 ICAM1 IL1B VCAM1
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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