MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Epithelial Recurrent Erosion Dystrophy (C565155)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson Chorioretinal Atrophy (C566236)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4370

Name:

Epithelial Recurrent Erosion Dystrophy

Definition:

Alternative IDs:

OMIM:122400

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C565155 |C11.270.162/C565155 |C16.320.290.162/C565155

Synonyms:

Corneal Erosions, Recurring Hereditary |ERED

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C565155
MeSH: C565155
OMIM: 122400;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0200020	Corneal erosion
3	HP:0009926	Epiphora
4	HP:0012531	Pain
5	HP:0000613	Photophobia
6	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)	1308	COL17A1	Uncertain significance	2086242885	RCV001197376;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105793717	105793717	10:g.105793717G>A	-
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)	1308	COL17A1	Benign	17116350	RCV000247403\|RCV000307690\|RCV001582812\|RCV001711544;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105793750	105793750	10:g.105793750T>C	ClinGen:CA5677717,UniProtKB:Q9UMD9#VAR_017602	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg)	1308	COL17A1	Uncertain significance	143021968	RCV000303490\|RCV002520535\|RCV002504049\|RCV002520534;	N	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900\|MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787; MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MeSH:D030342,Med	10	105793778	105793778	NC_000010.10:g.105793778C>T	ClinGen:CA5677721	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	1308	COL17A1	Pathogenic/Likely pathogenic	121912771	RCV001781284\|RCV002279925\|RCV002247369;	N	MedGen:C3661900\|MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105793951	105793951	10:g.105793951C>T	ClinGen:CA127324,UniProtKB:Q9UMD9#VAR_017601,OMIM:113811.0006	C2608084 Epidermolysis bullosa, junctional, localisata variant;
NM_000494.4(COL17A1):c.3419-10A>T	1308	COL17A1	Likely benign	1448663798	RCV000924382\|RCV002502812;	N	MedGen:CN517202\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381; MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787	10	105795331	105795331	10:g.105795331T>A	-
NM_000494.4(COL17A1):c.3278-9C>G	1308	COL17A1	Benign	2274098	RCV000244046\|RCV000333063\|RCV001582811\|RCV001711543;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105796399	105796399	10:g.105796399G>C	ClinGen:CA5678020	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)	1308	COL17A1	Benign	2476958	RCV000252056\|RCV000288544\|RCV001582810\|RCV001711542;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105796819	105796819	10:g.105796819A>G	ClinGen:CA5678048	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.3208+16C>T	1308	COL17A1	Benign	2282437	RCV000247131\|RCV001582809\|RCV001582808\|RCV001534542;	N	MedGen:CN169374\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900	10	105797378	105797378	10:g.105797378G>A	ClinGen:CA5678070	CN169374 not specified;
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)	1308	COL17A1	Pathogenic	760714959	RCV000190897\|RCV003447515;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	10	105797446	105797446	NC_000010.10:g.105797446G>A	ClinGen:CA204962,OMIM:113811.0016	C1852551 122400 Epithelial recurrent erosion dystrophy;
NM_000494.4(COL17A1):c.3071-5G>A	1308	COL17A1	Uncertain significance	370589324	RCV001197377;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105797536	105797536	10:g.105797536C>T	-
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)	1308	COL17A1	Benign	2274100	RCV000242121\|RCV000339063\|RCV001589240\|RCV001711541;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105798872	105798872	10:g.105798872T>C	ClinGen:CA5678181	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.2897-2A>C	1308	COL17A1	Likely pathogenic	-1	RCV003333855;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105798881	105798881		-
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)	1308	COL17A1	Benign	2296219	RCV000250170\|RCV000393118\|RCV001589239\|RCV001711540;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105799216	105799216	10:g.105799216G>T	ClinGen:CA5678205	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)	1308	COL17A1	Pathogenic	797045142	RCV000190896;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105799371	105799371	NC_000010.10:g.105799371G>A	ClinGen:CA204960,UniProtKB:Q9UMD9#VAR_074627,OMIM:113811.0015	C1852551 122400 Epithelial recurrent erosion dystrophy;
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)	1308	COL17A1	Benign	4918079	RCV000246830\|RCV000276483\|RCV001589238\|RCV001711539;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105801253	105801253	10:g.105801253G>A	ClinGen:CA5678390	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.2398+19G>A	1308	COL17A1	Benign	813944	RCV000241821\|RCV001589237\|RCV001589236\|RCV001711538;	N	MedGen:CN169374\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900	10	105805497	105805497	10:g.105805497C>T	ClinGen:CA5678500	CN169374 not specified;
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)	1308	COL17A1	Benign	805722	RCV000249875\|RCV000390866\|RCV001589235\|RCV001610576;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105810400	105810400	10:g.105810400T>C	ClinGen:CA5678696,UniProtKB:Q9UMD9#VAR_017600	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)	1308	COL17A1	Pathogenic	768415627	RCV001197378;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105810636	105810636	10:g.105810636G>A	-
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)	1308	COL17A1	Uncertain significance	-1	RCV002289348\|RCV002508352\|RCV003314725;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900\|MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530, Orphanet:88661	10	105811266	105811266	105811266	-
NM_000494.4(COL17A1):c.2002+2T>G	1308	COL17A1	Pathogenic	1274167395	RCV002249371;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105811911	105811911	105811911	-
NM_000494.4(COL17A1):c.1465+48A>G	1308	COL17A1	Benign	805696	RCV001587996\|RCV001587995\|RCV001615346;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900	10	105816685	105816685	105816685	-
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)	1308	COL17A1	Benign/Likely benign	149983875	RCV000350491\|RCV000974467\|RCV002502187;	N	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900\|MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787; MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381	10	105816862	105816862	NC_000010.10:g.105816862C>T	ClinGen:CA5679062	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)	1308	COL17A1	Benign	805698	RCV000244902\|RCV000344715\|RCV001589234\|RCV001711655;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105816916	105816916	10:g.105816916C>T	ClinGen:CA5679079,UniProtKB:Q9UMD9#VAR_017597	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)	1308	COL17A1	Benign	805701	RCV000246164\|RCV000265171\|RCV001589233\|RCV001668433;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105819956	105819956	10:g.105819956G>A	ClinGen:CA5679180	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.979+27T>A	1308	COL17A1	Benign	805704	RCV001587998\|RCV001587997\|RCV001685548;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MedGen:C3661900	10	105821136	105821136	105821136	-
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)	1308	COL17A1	Benign	805708	RCV000252360\|RCV000264886\|RCV001589241\|RCV001711656;	N	MedGen:CN169374\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MedGen:C3661900	10	105824333	105824333	10:g.105824333G>A	ClinGen:CA5679345,UniProtKB:Q9UMD9#VAR_017593	C0079301 Epidermolysis bullosa, junctional;
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)	1308	COL17A1	Pathogenic	1564685400	RCV001197379\|RCV003314672;	N	MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400, Orphanet:293381\|MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530, Orphanet:88661	10	105831793	105831793	10:g.105831793G>A	-

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