ERED
MCID: EPT021
MIFTS: 35

Epithelial Recurrent Erosion Dystrophy (ERED)

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Epithelial Recurrent Erosion Dystrophy

MalaCards integrated aliases for Epithelial Recurrent Erosion Dystrophy:

Name: Epithelial Recurrent Erosion Dystrophy 57 59 75 29 6 73
Ered 57 59 75
Corneal Erosions, Recurring Hereditary 57 75
Recurrent Hereditary Corneal Erosions 59
Recurrent Corneal Erosion Syndrome 75
Recurrent Erosion of Cornea 73
Recurrent Corneal Erosions 29
Dystrophia Helsinglandica 59
Dystrophia Smolandiensis 59
Rces 75

Characteristics:

Orphanet epidemiological data:

59
epithelial recurrent erosion dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

32
epithelial recurrent erosion dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 122400
Orphanet 59 ORPHA293381
UMLS via Orphanet 74 C1852551
ICD10 via Orphanet 34 H18.5
MedGen 42 C1852551
MeSH 44 D003317
UMLS 73 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)

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 pain and photophobia. An important gene associated with Epithelial Recurrent Erosion Dystrophy is COL17A1 (Collagen Type XVII Alpha 1 Chain). The drugs Tetrahydrozoline and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are visual impairment and photophobia

UniProtKB/Swiss-Prot : 75 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 329)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ig 11.5
2 atherosclerosis susceptibility 11.2
3 estrogen resistance 11.2
4 amelogenesis imperfecta hypoplastic type, ig 11.1
5 congenital disorder of glycosylation, type ik 11.0
6 epidermodysplasia verruciformis 10.8
7 marinesco-sjogren syndrome 10.8
8 coronary heart disease 1 10.8
9 peripheral vascular disease 10.8
10 breast cancer 10.7
11 corneal disease 10.2
12 adenocarcinoma 10.2
13 neuronitis 10.1
14 prostatitis 10.0
15 lung cancer susceptibility 3 10.0
16 prostate cancer 10.0
17 endotheliitis 10.0
18 recurrent corneal erosion 10.0
19 ovarian cancer 10.0
20 lung cancer 10.0
21 pancreatitis 10.0
22 retinitis 9.9
23 hepatitis 9.9
24 alzheimer disease 9.9
25 amyotrophic lateral sclerosis 1 9.9
26 gastric cancer 9.9
27 melanoma 9.9
28 lateral sclerosis 9.9
29 hypoxia 9.9
30 diabetes mellitus, noninsulin-dependent 9.9
31 insulin-like growth factor i 9.9
32 endometrial cancer 9.9
33 endometrial adenocarcinoma 9.8
34 glioma 9.8
35 ductal carcinoma in situ 9.8
36 thyroiditis 9.8
37 periodontitis 9.8
38 small cell cancer of the lung 9.8
39 insulinoma 9.8
40 endometriosis 9.8
41 gingivitis 9.8
42 type i 9.8
43 depression 9.8
44 cystic fibrosis 9.7
45 cervicitis 9.7
46 retinal degeneration 9.7
47 hepatocellular carcinoma 9.7
48 myeloma, multiple 9.7
49 aging 9.7
50 asthma 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
pain
epiphora
corneal erosions
unstable refraction (in older patients)
more

Clinical features from OMIM:

122400

Human phenotypes related to Epithelial Recurrent Erosion Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 photophobia 32 HP:0000613
3 epiphora 32 HP:0009926
4 pain 32 HP:0012531
5 corneal erosion 32 HP:0200020

UMLS symptoms related to Epithelial Recurrent Erosion Dystrophy:


pain, photophobia

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 Tetrahydrozoline Phase 4
2 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 29 COL17A1
2 Recurrent Corneal Erosions 29

Anatomical Context for Epithelial Recurrent Erosion Dystrophy

MalaCards organs/tissues related to Epithelial Recurrent Erosion Dystrophy:

41
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

Variations for Epithelial Recurrent Erosion Dystrophy

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

75
# 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_000494.3(COL17A1): c.2816C> T (p.Thr939Ile) single nucleotide variant Pathogenic rs797045142 GRCh38 Chromosome 10, 104039613: 104039613
2 COL17A1 NM_000494.3(COL17A1): c.2816C> T (p.Thr939Ile) single nucleotide variant Pathogenic rs797045142 GRCh37 Chromosome 10, 105799371: 105799371
3 COL17A1 NM_000494.3(COL17A1): c.3156C> T (p.Gly1052=) single nucleotide variant Pathogenic rs760714959 GRCh38 Chromosome 10, 104037688: 104037688
4 COL17A1 NM_000494.3(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 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
Content
Loading form....