ERED
MCID: EPT021
MIFTS: 47

Epithelial Recurrent Erosion Dystrophy (ERED)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epithelial Recurrent Erosion Dystrophy

MalaCards integrated aliases for Epithelial Recurrent Erosion Dystrophy:

Name: Epithelial Recurrent Erosion Dystrophy 57 11 58 73 28 5 14 38 71
Ered 57 11 58 73
Corneal Erosions, Recurring Hereditary 57 73
Recurrent Hereditary Corneal Erosions 58
Recurrent Corneal Erosion Syndrome 73
Recurrent Erosion of Cornea 71
Dystrophia Helsinglandica 58
Dystrophia Smolandiensis 58
Col17a1 11
Rces 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset of symptoms in childhood
decrease in frequency and severity of episodes in young adulthood
dryness and impaired vision in older adults
variable phenotypic expression within same individual in each eye (in some patients)


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0070337
OMIM® 57 122400
MeSH 43 D003317
ICD10 via Orphanet 32 H18.5
UMLS via Orphanet 72 C1852551
Orphanet 58 ORPHA293381
MedGen 40 C1852551
UMLS 71 C0155119 C1852551

Summaries for Epithelial Recurrent Erosion Dystrophy

OMIM®: 57 Epithelial recurrent erosion dystrophy is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016). (122400) (Updated 24-Oct-2022)

MalaCards based summary: Epithelial Recurrent Erosion Dystrophy, also known as ered, is related to cicatricial pemphigoid and epithelial basement membrane dystrophy, and has symptoms including pain and photophobia. An important gene associated with Epithelial Recurrent Erosion Dystrophy is COL17A1 (Collagen Type XVII Alpha 1 Chain). The drugs Anesthetics, General and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and breast, and related phenotypes are progressive visual loss and corneal dystrophy

UniProtKB/Swiss-Prot: 73 A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks.

Orphanet: 58 Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.

Disease Ontology: 11 An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.

Related Diseases for Epithelial Recurrent Erosion Dystrophy

Diseases related to Epithelial Recurrent Erosion Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 31.6 KRT12 COL17A1
2 epithelial basement membrane dystrophy 30.7 UBIAD1 TGFBI KRT12 COL17A1 CHST6
3 recurrent corneal erosion 30.4 TGFBI KRT12 DNAJC9 COL8A2 COL17A1 CHST6
4 epithelial and subepithelial dystrophy 30.1 UBIAD1 TGFBI KRT12 DNAJC9 COL8A2 COL17A1
5 irregular astigmatism 30.1 TGFBI KRT12 COL8A2
6 corneal dystrophy, thiel-behnke type 29.0 UBIAD1 TGFBI KRT12 COL8A2 CHST6
7 corneal disease 28.8 UBIAD1 TGFBI LOXHD1 KRT12 COL8A2 CHST6
8 corneal dystrophy 28.7 UBIAD1 TGFBI LOXHD1 KRT12 COL8A2 COL17A1
9 junctional epidermolysis bullosa non-herlitz type 11.3
10 skin disease 11.2
11 bullous pemphigoid 11.2
12 pemphigoid 11.1
13 amelogenesis imperfecta 11.1
14 basal cell carcinoma 11.1
15 epidermolysis bullosa, junctional 4, intermediate 11.1
16 autoimmune disease 11.1
17 pemphigoid gestationis 11.1
18 epidermolysis bullosa simplex 11.1
19 lichen planus 11.1
20 melanoma 11.0
21 epidermolysis bullosa, junctional 1a, intermediate 11.0
22 kindler syndrome 11.0
23 epidermolysis bullosa acquisita 11.0
24 bullous skin disease 11.0
25 herpes zoster 11.0
26 pemphigus 11.0
27 epidermolysis bullosa, junctional 1b, severe 10.9
28 pemphigus vulgaris, familial 10.8
29 epidermolysis bullosa, junctional 5b, with pyloric atresia 10.8
30 pyloric atresia 10.8
31 cardiomyopathy, infantile histiocytoid 10.8
32 pemphigus gestationis 10.8
33 autoimmune disease of musculoskeletal system 10.8
34 autoimmune disease of skin and connective tissue 10.8
35 recessive dystrophic epidermolysis bullosa 10.8
36 epidermolysis bullosa simplex generalized type 10.8
37 iga pemphigus 10.8
38 paraneoplastic pemphigus 10.8
39 pseudomembranous conjunctivitis 10.8
40 acute laryngopharyngitis 10.8
41 integumentary system disease 10.8
42 constipation 10.8
43 motor neuron disease 10.8
44 epidermolysis bullosa dystrophica 10.8
45 connective tissue disease 10.8
46 mite infestation 10.8
47 scabies 10.8
48 lichen disease 10.8
49 neurotic excoriation 10.8
50 pompholyx 10.8

Graphical network of the top 20 diseases related to Epithelial Recurrent Erosion Dystrophy:



Diseases related to Epithelial Recurrent Erosion Dystrophy

Symptoms & Phenotypes for Epithelial Recurrent Erosion Dystrophy

Human phenotypes related to Epithelial Recurrent Erosion Dystrophy:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000529
2 corneal dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001131
3 ocular pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200026
4 recurrent corneal erosions 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000495
5 subepithelial corneal opacities 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008039
6 photophobia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000613
7 corneal scarring 58 30 Frequent (33%) Frequent (79-30%)
HP:0000559
8 blurred vision 58 30 Frequent (33%) Frequent (79-30%)
HP:0000622
9 irregular astigmatism 58 30 Frequent (33%) Frequent (79-30%)
HP:0031792
10 keratoconjunctivitis sicca 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001097
11 epiphora 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009926
12 visual impairment 30 HP:0000505
13 corneal erosion 30 HP:0200020
14 pain 30 HP:0012531

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
photophobia
pain
epiphora
corneal erosions
unstable refraction (in older patients)
more

Clinical features from OMIM®:

122400 (Updated 24-Oct-2022)

UMLS symptoms related to Epithelial Recurrent Erosion Dystrophy:


pain; photophobia

MGI Mouse Phenotypes related to Epithelial Recurrent Erosion Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 AGBL1 ASIP CHST6 COL8A2 DNMBP KRT12

Drugs & Therapeutics for Epithelial Recurrent Erosion Dystrophy

Drugs for Epithelial Recurrent Erosion Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics, General Phase 1, Phase 2
2 Anesthetics Phase 1, Phase 2
3 Antibiotics, Antitubercular Phase 1, Phase 2
4 Anti-Inflammatory Agents Phase 1, Phase 2
5 Anti-Bacterial Agents Phase 1, Phase 2
6 Ophthalmic Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL17A1 cDNA for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Terminated NCT03490331 Phase 1, Phase 2
2 Metalloproteinases and Recurrent Corneal Erosion Syndrome Completed NCT02891694
3 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy of the Anterior Cornea: A Randomized Double-Blinded Placebo-Controlled Study Terminated NCT02373397

Search NIH Clinical Center for Epithelial Recurrent Erosion Dystrophy

Genetic Tests for Epithelial Recurrent Erosion Dystrophy

Genetic tests related to Epithelial Recurrent Erosion Dystrophy:

# Genetic test Affiliating Genes
1 Epithelial Recurrent Erosion Dystrophy 28 COL17A1

Anatomical Context for Epithelial Recurrent Erosion Dystrophy

Organs/tissues related to Epithelial Recurrent Erosion Dystrophy:

MalaCards : Eye, Skin, Breast, Lymph Node, Small Intestine, Endothelial, Lung

Publications for Epithelial Recurrent Erosion Dystrophy

Articles related to Epithelial Recurrent Erosion Dystrophy:

(show top 50) (show all 349)
# Title Authors PMID Year
1
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. 62 57 5
26786512 2016
2
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). 62 57 5
25676728 2015
3
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. 62 57 5
14562173 2003
4
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. 57 5
19710953 2009
5
Reis-Bücklers' corneal dystrophy. Immunofluorescent and electron microscopic studies. 57 5
2663347 1989
6
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. 62 5
27309958 2016
7
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. 57
22965308 2012
8
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. 57
9403072 1997
9
Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy. 57
5300718 1967
10
A family history of corneal erosions. 57
13380984 1955
11
COL17A1 facilitates tumor growth and predicts poor prognosis in pancreatic cancer. 62
36191371 2022
12
Palmitoyl‑RGD promotes the expression of dermal‑epidermal junction components in HaCaT cells. 62
36043531 2022
13
Emergence of plasmid-mediated tigecycline, β-lactam and florfenicol resistance genes tet(X), blaOXA-347 and floR in Riemerella anatipestifer isolated in China. 62
35944374 2022
14
Implementation of the Corneal Sweep Test in the Diagnosis of Recurrent Corneal Erosion: A 2-Year Retrospective Study. 62
35249983 2022
15
Not quite "mast"ered: Patients and providers report limitations in the management of systemic mastocytosis. 62
35996860 2022
16
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. 62
35778651 2022
17
Clinical outcomes of root coverage using porcine-derived collagen matrix with modified coronally advanced tunnel technique (MCAT) in multiple gingival recessions in smokers - a randomized controlled clinical trial. 62
36057652 2022
18
Impact of Chronic Foot Pain Related Quality of Life: A Retrospective Case-Control Study. 62
36122268 2022
19
Reduced expression of Collagen 17A1 in naturally aged, photoaged, and UV-irradiated human skin in vivo: Potential links to epidermal aging. 62
35060094 2022
20
Dataset of stopwords extracted from Uzbek texts. 62
35712366 2022
21
Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. 62
35490295 2022
22
Efficacy of oral doxycycline in the treatment of recurrent corneal erosion syndrome. 62
35962555 2022
23
Absence of NC14A Domain of COLXVII/BP180 in Mice Results in IL-17‒Associated Skin Inflammation. 62
35985497 2022
24
Cell-matrix interface regulates dormancy in human colon cancer stem cells. 62
35798028 2022
25
Potential vascular damage by posterior dislocation of sternoclavicular joint. 62
35780422 2022
26
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate. 62
35717189 2022
27
P-13 Trans-epithelial phototherapeutic keratectomy (PTK) for recurrent corneal erosion syndrome (RCES). 62
36161817 2022
28
A pan-resistant Myroides odoratimimus catheter-related bacteremia in a COVID-19 patient and review of the literature. 62
35312630 2022
29
COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study. 62
34987801 2022
30
Phenotypic and genomic analysis reveals Riemerella anatipestifer as the potential reservoir of tet(X) variants. 62
35107139 2022
31
Phototherapeutic keratectomy versus epithelial debridement combined with anterior stromal puncture or diamond burr for recurrent corneal erosions. 62
35216957 2022
32
FCGR2A-HH Gene Variants Encoding the Fc Gamma Receptor for the C-Reactive Protein Are Associated with Enhanced Monocyte CD32 Expression and Cardiovascular Events' Recurrence after Primary Acute Coronary Syndrome. 62
35203703 2022
33
Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer. 62
35722628 2022
34
COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa. 62
36091706 2022
35
Review/Perspective: Operations for Cauda Equina Syndromes - "The Sooner the Better". 62
35399881 2022
36
Identification of Core Genes and Pathways in Melanoma Metastasis via Bioinformatics Analysis. 62
35054979 2022
37
Novel Immune-Related Gene Signature for Risk Stratification and Prognosis of Survival in ER (+) and/or PR (+) and HER2 (-) Breast Cancer. 62
35721151 2022
38
[Clinical Research in the Community-based Integrated Care System -from the Perspective of Dissemination and Implementation Research]. 62
35228373 2022
39
Bioinformatics Analysis Identifies Potential Related Genes in the Pathogenesis of Intrauterine Fetal Growth Retardation. 62
35923419 2022
40
Integrated Analysis Identifies Four Genes as Novel Diagnostic Biomarkers Which Correlate with Immune Infiltration in Preeclampsia. 62
35528613 2022
41
Photoenzymatic Synthesis of α-Tertiary Amines by Engineered Flavin-Dependent "Ene"-Reductases. 62
34784482 2021
42
Conceptus interferon gamma is essential for establishment of pregnancy in the pig†. 62
34608481 2021
43
Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds. 62
34861880 2021
44
EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis. 62
34550317 2021
45
Nanomicelle-enhanced, asymmetric ERED-catalyzed reductions of activated olefins. Applications to 1-pot chemo- and bio-catalysis sequences in water. 62
34698744 2021
46
Robot-asszisztált Minimál Invazív Sebészeti Rendszerek a sebészeti adattudomány korában a sebészeti adattudomány korában. 62
34821582 2021
47
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study. 62
36249517 2021
48
Face Mask-Associated Recurrent Corneal Erosion Syndrome and Corneal Infection. 62
34483243 2021
49
Comprehensive RNA sequencing in primary murine keratinocytes and fibroblasts identifies novel biomarkers and provides potential therapeutic targets for skin-related diseases. 62
34602061 2021
50
Defining the consequences of endogenous genetic variation within a novel family of Schizosaccharomyces pombe heterochromatin nucleating sequences. 62
34849813 2021

Variations for Epithelial Recurrent Erosion Dystrophy

ClinVar genetic disease variations for Epithelial Recurrent Erosion Dystrophy:

5 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL17A1 NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter) SNV Pathogenic
931123 rs768415627 GRCh37: 10:105810636-105810636
GRCh38: 10:104050878-104050878
2 COL17A1 NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) SNV Pathogenic
931124 rs1564685400 GRCh37: 10:105831793-105831793
GRCh38: 10:104072035-104072035
3 COL17A1 NM_000494.4(COL17A1):c.2002+2T>G SNV Pathogenic
1685644 GRCh37: 10:105811911-105811911
GRCh38: 10:104052153-104052153
4 COL17A1 NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile) SNV Pathogenic
208977 rs797045142 GRCh37: 10:105799371-105799371
GRCh38: 10:104039613-104039613
5 COL17A1 NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) SNV Pathogenic
208978 rs760714959 GRCh37: 10:105797446-105797446
GRCh38: 10:104037688-104037688
6 COL17A1 NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) SNV Likely Pathogenic
17650 rs121912771 GRCh37: 10:105793951-105793951
GRCh38: 10:104034193-104034193
7 COL17A1 NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu) SNV Uncertain Significance
931121 rs2086242885 GRCh37: 10:105793717-105793717
GRCh38: 10:104033959-104033959
8 COL17A1 NM_000494.4(COL17A1):c.3071-5G>A SNV Uncertain Significance
931122 rs370589324 GRCh37: 10:105797536-105797536
GRCh38: 10:104037778-104037778
9 COL17A1 NM_000494.4(COL17A1):c.3208+16C>T SNV Benign
256272 rs2282437 GRCh37: 10:105797378-105797378
GRCh38: 10:104037620-104037620
10 COL17A1 NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=) SNV Benign
256273 rs2476958 GRCh37: 10:105796819-105796819
GRCh38: 10:104037061-104037061
11 COL17A1 NM_000494.4(COL17A1):c.3278-9C>G SNV Benign
256274 rs2274098 GRCh37: 10:105796399-105796399
GRCh38: 10:104036641-104036641
12 COL17A1 NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly) SNV Benign
256275 rs17116350 GRCh37: 10:105793750-105793750
GRCh38: 10:104033992-104033992
13 COL17A1 NM_000494.4(COL17A1):c.1465+48A>G SNV Benign
1217340 GRCh37: 10:105816685-105816685
GRCh38: 10:104056927-104056927
14 COL17A1 NM_000494.4(COL17A1):c.979+27T>A SNV Benign
1217341 GRCh37: 10:105821136-105821136
GRCh38: 10:104061378-104061378
15 COL17A1 NM_000494.4(COL17A1):c.1062C>T (p.Ala354=) SNV Benign
256263 rs805701 GRCh37: 10:105819956-105819956
GRCh38: 10:104060198-104060198
16 COL17A1 NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser) SNV Benign
256266 rs805698 GRCh37: 10:105816916-105816916
GRCh38: 10:104057158-104057158
17 COL17A1 NM_000494.4(COL17A1):c.2107A>G (p.Met703Val) SNV Benign
256267 rs805722 GRCh37: 10:105810400-105810400
GRCh38: 10:104050642-104050642
18 COL17A1 NM_000494.4(COL17A1):c.2398+19G>A SNV Benign
256268 rs813944 GRCh37: 10:105805497-105805497
GRCh38: 10:104045739-104045739
19 COL17A1 NM_000494.4(COL17A1):c.2595C>T (p.Arg865=) SNV Benign
256269 rs4918079 GRCh37: 10:105801253-105801253
GRCh38: 10:104041495-104041495
20 COL17A1 NM_000494.4(COL17A1):c.2883C>A (p.Pro961=) SNV Benign
256270 rs2296219 GRCh37: 10:105799216-105799216
GRCh38: 10:104039458-104039458
21 COL17A1 NM_000494.4(COL17A1):c.2904A>G (p.Pro968=) SNV Benign
256271 rs2274100 GRCh37: 10:105798872-105798872
GRCh38: 10:104039114-104039114
22 COL17A1 NM_000494.4(COL17A1):c.629C>T (p.Thr210Met) SNV Benign
256276 rs805708 GRCh37: 10:105824333-105824333
GRCh38: 10:104064575-104064575

UniProtKB/Swiss-Prot genetic disease variations for Epithelial Recurrent Erosion Dystrophy:

73
# Symbol AA change Variation ID SNP ID
1 COL17A1 p.Thr939Ile VAR_074627 rs797045142

Expression for Epithelial Recurrent Erosion Dystrophy

Search GEO for disease gene expression data for Epithelial Recurrent Erosion Dystrophy.

Pathways for Epithelial Recurrent Erosion Dystrophy

GO Terms for Epithelial Recurrent Erosion Dystrophy

Cellular components related to Epithelial Recurrent Erosion Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.43 TGFBI COL8A2 COL17A1
2 MKS complex GO:0036038 8.92 TMEM231 TCTN2

Sources for Epithelial Recurrent Erosion Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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