ERED
MCID: EPT021
MIFTS: 35

Epithelial Recurrent Erosion Dystrophy (ERED)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Epithelial Recurrent Erosion Dystrophy

MalaCards integrated aliases for Epithelial Recurrent Erosion Dystrophy:

Name: Epithelial Recurrent Erosion Dystrophy 58 60 76 30 6 74
Ered 58 60 76
Corneal Erosions, Recurring Hereditary 58 76
Recurrent Hereditary Corneal Erosions 60
Recurrent Corneal Erosion Syndrome 76
Recurrent Erosion of Cornea 74
Recurrent Corneal Erosions 30
Dystrophia Helsinglandica 60
Dystrophia Smolandiensis 60
Rces 76

Characteristics:

Orphanet epidemiological data:

60
epithelial recurrent erosion dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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)


HPO:

33
epithelial recurrent erosion dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 122400
MeSH 45 D003317
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1852551
Orphanet 60 ORPHA293381
MedGen 43 C1852551

Summaries for Epithelial Recurrent Erosion Dystrophy

OMIM : 58 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)

MalaCards based summary : Epithelial Recurrent Erosion Dystrophy, also known as ered, is related to amelogenesis imperfecta, type ig and atherosclerosis susceptibility, and has symptoms including photophobia and pain. An important gene associated with Epithelial Recurrent Erosion Dystrophy is COL17A1 (Collagen Type XVII Alpha 1 Chain). The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are visual impairment and photophobia

UniProtKB/Swiss-Prot : 76 Epithelial recurrent erosion dystrophy: 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.

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 529)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ig 11.7
2 atherosclerosis susceptibility 11.3
3 estrogen resistance 11.3
4 amelogenesis imperfecta hypoplastic type, ig 11.3
5 corneal dystrophy, avellino type 11.2
6 corneal dystrophy, lattice type iiia 11.2
7 congenital disorder of glycosylation, type ik 11.2
8 epidermodysplasia verruciformis 1 11.0
9 marinesco-sjogren syndrome 11.0
10 coronary heart disease 1 11.0
11 peripheral vascular disease 11.0
12 glyceraldehyde-3-phosphate dehydrogenase deficiency 11.0
13 breast cancer 10.9
14 horns in sheep 10.5
15 adenocarcinoma 10.4
16 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.4
17 polymyositis 10.3
18 lung cancer susceptibility 3 10.3
19 corneal disease 10.3
20 spondyloenchondrodysplasia 10.3
21 endometrial cancer 10.2
22 diabetes mellitus, noninsulin-dependent 10.2
23 recurrent corneal erosion 10.2
24 lung cancer 10.1
25 melanoma 10.1
26 ovarian cancer 10.1
27 amyotrophic lateral sclerosis 1 10.1
28 prostate cancer 10.1
29 prostate cancer, hereditary, 8 10.1
30 prostate cancer, hereditary, 6 10.1
31 fatty liver disease, nonalcoholic 1 10.1
32 lateral sclerosis 10.1
33 colorectal cancer 10.1
34 alzheimer disease 10.1
35 esterase c 10.1
36 pulmonary hypertension 10.1
37 hypoxia 10.1
38 periodontitis 10.1
39 depression 10.1
40 hepatocellular carcinoma 10.0
41 gastric cancer 10.0
42 epithelial basement membrane dystrophy 10.0
43 periodontitis, chronic 10.0
44 major depressive disorder 10.0
45 benign childhood occipital epilepsy, gastaut type 10.0
46 insulin-like growth factor i 10.0
47 pulmonary fibrosis 10.0
48 lung disease 10.0
49 frasier syndrome 10.0
50 small cell cancer of the lung 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 photophobia 33 HP:0000613
3 corneal erosion 33 HP:0200020
4 pain 33 HP:0012531
5 epiphora 33 HP:0009926

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
pain
epiphora
corneal erosions
unstable refraction (in older patients)
more

Clinical features from OMIM:

122400

UMLS symptoms related to Epithelial Recurrent Erosion Dystrophy:


photophobia, pain

Drugs & Therapeutics for Epithelial Recurrent Erosion Dystrophy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4

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 30 COL17A1
2 Recurrent Corneal Erosions 30

Anatomical Context for Epithelial Recurrent Erosion Dystrophy

MalaCards organs/tissues related to Epithelial Recurrent Erosion Dystrophy:

42
Eye

Publications for Epithelial Recurrent Erosion Dystrophy

Articles related to Epithelial Recurrent Erosion Dystrophy:

# Title Authors Year
1
Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. ( 29708937 )
2018
2
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. ( 27309958 )
2016
3
Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). ( 25676728 )
2015
4
ErmF and ereD are responsible for erythromycin resistance in Riemerella anatipestifer. ( 26107936 )
2015

Variations for Epithelial Recurrent Erosion Dystrophy

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

76
# Symbol AA change Variation ID SNP ID
1 COL17A1 p.Thr939Ile VAR_074627 rs797045142

ClinVar genetic disease variations for Epithelial Recurrent Erosion Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL17A1 NM_000494.4(COL17A1): c.2816C> T (p.Thr939Ile) single nucleotide variant Pathogenic rs797045142 GRCh38 Chromosome 10, 104039613: 104039613
2 COL17A1 NM_000494.4(COL17A1): c.2816C> T (p.Thr939Ile) single nucleotide variant Pathogenic rs797045142 GRCh37 Chromosome 10, 105799371: 105799371
3 COL17A1 NM_000494.4(COL17A1): c.3156C> T (p.Gly1052=) single nucleotide variant Pathogenic rs760714959 GRCh38 Chromosome 10, 104037688: 104037688
4 COL17A1 NM_000494.4(COL17A1): c.3156C> T (p.Gly1052=) single nucleotide variant Pathogenic rs760714959 GRCh37 Chromosome 10, 105797446: 105797446

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

Sources for Epithelial Recurrent Erosion Dystrophy

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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