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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 ..Corneal Dystrophy, Congenital Stromal (C566452)
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:

3011

Name:

Corneal Dystrophy, Congenital Stromal

Definition:

Alternative IDs:

DO:DOID:0060445|OMIM:610048

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C566452 |C11.270.162/C566452 |C16.320.290.162/C566452

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566452
MeSH: C566452
OMIM: 610048;
MSeqDR :
Genes: DCN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008005	Congenital corneal dystrophy
3	HP:0000501	Glaucoma	HP:0040284
4	HP:0011487	Increased corneal thickness
5	HP:0000529	Progressive visual loss
6	HP:0000486	Strabismus	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001920.5(DCN):c.*566T>A	1634	DCN	Uncertain significance	rs1449263175	RCV001110884;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539269	91539269	12:g.91539269A>T	-
NM_001920.5(DCN):c.*443T>G	1634	DCN	Uncertain significance	rs886049888	RCV000353941;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539392	91539392	NC_000012.11:g.91539392A>C	ClinGen:CA10633708	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*377T>C	1634	DCN	Benign	rs35379812	RCV000261456;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539458	91539458	NC_000012.11:g.91539458A>G	ClinGen:CA6716854	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*354A>G	1634	DCN	Uncertain significance	rs778805558	RCV001112882;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539481	91539481	12:g.91539481T>C	-
NM_001920.5(DCN):c.*351T>C	1634	DCN	Uncertain significance	rs1201458812	RCV001112883;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539484	91539484	12:g.91539484A>G	-
NM_001920.5(DCN):c.*341A>G	1634	DCN	Uncertain significance	rs1880967544	RCV001112884;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539494	91539494	12:g.91539494T>C	-
NM_001920.5(DCN):c.*289A>T	1634	DCN	Uncertain significance	rs886049889	RCV000323638;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539546	91539546	NC_000012.11:g.91539546T>A	ClinGen:CA10643511	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*220G>C	1634	DCN	Uncertain significance	rs886049890	RCV000362094;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539615	91539615	12:g.91539615C>G	ClinGen:CA10638767	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*160C>T	1634	DCN	Benign	rs7441	RCV000267456;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539675	91539675	12:g.91539675G>A	ClinGen:CA10633709	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*148T>G	1634	DCN	Uncertain significance	rs564091657	RCV000327162;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539687	91539687	12:g.91539687A>C	ClinGen:CA10642600	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*105G>A	1634	DCN	Benign	rs191434778	RCV000381737;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539730	91539730	12:g.91539730C>T	ClinGen:CA10643531	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*80C>T	1634	DCN	Uncertain significance	rs531541570	RCV001114243;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539755	91539755	12:g.91539755G>A	-
NM_001920.5(DCN):c.*51A>G	1634	DCN	Benign	rs1803343	RCV000292070;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539784	91539784	12:g.91539784T>C	ClinGen:CA6716861	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.1066G>A (p.Gly356Arg)	1634	DCN	Likely benign	rs775666283	RCV001114244;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539849	91539849	12:g.91539849C>T	-
NM_001920.5(DCN):c.1062A>T (p.Gln354His)	1634	DCN	Uncertain significance	rs765239185	RCV000328205;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539853	91539853	12:g.91539853T>A	ClinGen:CA6716872	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.975G>A (p.Ser325=)	1634	DCN	Benign	rs80123678	RCV000387412;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539940	91539940	12:g.91539940C>T	ClinGen:CA6716885	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.967del (p.Ser323fs)	1634	DCN	Pathogenic	rs80338741	RCV000018366;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539948	91539948	12:g.91539948_91539948del	ClinGen:CA341433,OMIM:125255.0001	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.962del (p.Lys321fs)	1634	DCN	Pathogenic	rs587777258	RCV000114315;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539953	91539953	NC_000012.11:g.91539957del	ClinGen:CA269448,OMIM:125255.0004
NM_001920.5(DCN):c.947del (p.Gly316fs)	1634	DCN	Pathogenic	rs397515545	RCV000055876;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539968	91539968	12:g.91539968_91539968del	ClinGen:CA344996,OMIM:125255.0003	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.944C>A (p.Pro315His)	1634	DCN	Likely benign	rs777270608	RCV000293139;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539971	91539971	12:g.91539971G>T	ClinGen:CA6716898	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.941del (p.Pro314fs)	1634	DCN	Pathogenic	rs80338742	RCV000020465;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91539974	91539974	12:g.91539974_91539974del	ClinGen:CA341874,OMIM:125255.0002	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.917T>C (p.Val306Ala)	1634	DCN	Benign	rs73358055	RCV000352672\|RCV000957100;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91539998	91539998	NC_000012.11:g.91539998A>G	ClinGen:CA6716901	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.879C>T (p.Tyr293=)	1634	DCN	Likely benign	rs144307891	RCV000405011;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91545437	91545437	NC_000012.11:g.91545437G>A	ClinGen:CA6716940	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.803C>T (p.Thr268Met)	1634	DCN	Benign	rs3138268	RCV000280004\|RCV000965905;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91545513	91545513	NC_000012.11:g.91545513G>A	ClinGen:CA6716944,UniProtKB:P07585#VAR_014351	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.703A>C (p.Arg235=)	1634	DCN	Benign	rs3138264	RCV000905834\|RCV001110218;	N	MedGen:CN517202\|MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91546916	91546916	12:g.91546916T>G	-
NM_001920.5(DCN):c.671C>T (p.Thr224Met)	1634	DCN	Conflicting interpretations of pathogenicity	rs144174426	RCV001110219\|RCV002556161;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MeSH:D030342,MedGen:C0950123	12	91546948	91546948	12:g.91546948G>A	-
NM_001920.5(DCN):c.632A>G (p.Asn211Ser)	1634	DCN	Uncertain significance	rs758510607	RCV001110220;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91550872	91550872	12:g.91550872T>C	-
NM_001920.5(DCN):c.621T>G (p.Ile207Met)	1634	DCN	Conflicting interpretations of pathogenicity	rs373676217	RCV000335101;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91550883	91550883	NC_000012.11:g.91550883A>C	ClinGen:CA6717010	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.560A>G (p.Lys187Arg)	1634	DCN	Uncertain significance	rs555705830	RCV001110221;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91550944	91550944	12:g.91550944T>C	-
NM_001920.5(DCN):c.555G>T (p.Pro185=)	1634	DCN	Likely benign	rs147765043	RCV001110222;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91550949	91550949	12:g.91550949C>A	-
NM_001920.5(DCN):c.529A>T (p.Ile177Phe)	1634	DCN	Benign	rs201430261	RCV000396540;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91552082	91552082	NC_000012.11:g.91552082T>A	ClinGen:CA6717046	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.424A>G (p.Lys142Glu)	1634	DCN	Benign	rs142752401	RCV000300052\|RCV000948899;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91552187	91552187	NC_000012.11:g.91552187T>C	ClinGen:CA6717065	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.282C>T (p.Thr94=)	1634	DCN	Benign	rs3138221	RCV000340881\|RCV000965906;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91558424	91558424	NC_000012.11:g.91558424G>A	ClinGen:CA6717111	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.212-6T>C	1634	DCN	Benign	rs191218249	RCV000394942\|RCV002522258;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91558500	91558500	NC_000012.11:g.91558500A>G	ClinGen:CA6717118	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.210G>A (p.Leu70=)	1634	DCN	Uncertain significance	rs200516355	RCV001110969;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91572120	91572120	12:g.91572120C>T	-
NM_001920.5(DCN):c.127G>A (p.Asp43Asn)	1634	DCN	Uncertain significance	rs1883428257	RCV001110970;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91572203	91572203	12:g.91572203C>T	-
NM_001920.5(DCN):c.54G>A (p.Pro18=)	1634	DCN	Benign/Likely benign	rs145597441	RCV000305864\|RCV002520843;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91572276	91572276	12:g.91572276C>T	ClinGen:CA6717175	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.47_50del (p.Ala16fs)	1634	DCN	Uncertain significance	rs1565791154	RCV000779120;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91572280	91572283	NC_000012.11:g.91572282_91572285del	-
NM_001920.5(DCN):c.33A>G (p.Ala11=)	1634	DCN	Benign	rs141738168	RCV000360157\|RCV000957290;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068\|MedGen:CN517202	12	91572297	91572297	NC_000012.11:g.91572297T>C	ClinGen:CA6717179	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.-180A>T	1634	DCN	Uncertain significance	rs757178906	RCV000270165;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576578	91576578	NC_000012.11:g.91576578T>A	ClinGen:CA10642602	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.-187A>G	1634	DCN	Uncertain significance	rs551534809	RCV000306630;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576585	91576585	NC_000012.11:g.91576585T>C	ClinGen:CA10633714	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.4(DCN):c.-249A>G	1634	DCN	Likely benign	rs189853358	RCV000365929;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576647	91576647	NC_000012.11:g.91576647T>C	ClinGen:CA10638787	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.4(DCN):c.-296C>T	1634	DCN	Likely benign	rs540013218	RCV000271450;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576694	91576694	NC_000012.11:g.91576694G>A	ClinGen:CA10638792	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.4(DCN):c.-307A>G	1634	DCN	Uncertain significance	rs886049891	RCV000331251;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576705	91576705	NC_000012.11:g.91576705T>C	ClinGen:CA10633718	C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.4(DCN):c.-325A>G	1634	DCN	Likely benign	rs147956869	RCV000385796;	N	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068	12	91576723	91576723	NC_000012.11:g.91576723T>C	ClinGen:CA10633719	C1864738 610048 Congenital Stromal Corneal Dystrophy;

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