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Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
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Corneal Dystrophy, Congenital Stromal (C566452)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson 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:Congenital Hereditary Stromal Dystrophy of the Cornea |Congenital Stromal Corneal Dystrophy |Congenital Stromal Dystrophy of the Cornea |CSCD |Decorin-Associated Congenital Stromal Corneal Dystrophy |Dystrophia Corneae Parenchymatosa Congenita
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C566452
MeSH: C566452
OMIM: 610048;
MSeqDR LSDB:  
Genes: DCN;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0008005Congenital corneal dystrophy
3 HP:0000501GlaucomaHP:0040284
4 HP:0011487Increased corneal thickness
5 HP:0000529Progressive visual loss
6 HP:0000486StrabismusHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001920.5(DCN):c.*566T>A1634DCNUncertain significance-1RCV001110884; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153926991539269AT12:g.91539269A>T-
NM_001920.5(DCN):c.*443T>G1634DCNUncertain significancers886049888RCV000353941; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153939291539392AC12:g.91539392A>CClinGen:CA10633708
NM_001920.5(DCN):c.*377T>C1634DCNBenignrs35379812RCV000261456; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153945891539458AG12:g.91539458A>GClinGen:CA6716854
NM_001920.5(DCN):c.*354A>G1634DCNUncertain significance-1RCV001112882; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153948191539481TC12:g.91539481T>C-
NM_001920.5(DCN):c.*351T>C1634DCNUncertain significance-1RCV001112883; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153948491539484AG12:g.91539484A>G-
NM_001920.5(DCN):c.*341A>G1634DCNUncertain significance-1RCV001112884; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153949491539494TC12:g.91539494T>C-
NM_001920.5(DCN):c.*289A>T1634DCNUncertain significancers886049889RCV000323638; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153954691539546TA12:g.91539546T>AClinGen:CA10643511
NM_001920.5(DCN):c.*220G>C1634DCNUncertain significancers886049890RCV000362094; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153961591539615CG12:g.91539615C>GClinGen:CA10638767C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*160C>T1634DCNBenignrs7441RCV000267456; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153967591539675GA12:g.91539675G>AClinGen:CA10633709C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*148T>G1634DCNUncertain significancers564091657RCV000327162; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153968791539687AC12:g.91539687A>CClinGen:CA10642600C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*105G>A1634DCNBenignrs191434778RCV000381737; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153973091539730CT12:g.91539730C>TClinGen:CA10643531C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.*80C>T1634DCNUncertain significance-1RCV001114243; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153975591539755GA12:g.91539755G>A-
NM_001920.5(DCN):c.*51A>G1634DCNBenignrs1803343RCV000292070; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153978491539784TC12:g.91539784T>CClinGen:CA6716861C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.1066G>A (p.Gly356Arg)1634DCNLikely benign-1RCV001114244; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153984991539849CT12:g.91539849C>T-
NM_001920.5(DCN):c.1062A>T (p.Gln354His)1634DCNUncertain significancers765239185RCV000328205; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153985391539853TA12:g.91539853T>AClinGen:CA6716872C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.975G>A (p.Ser325=)1634DCNBenignrs80123678RCV000387412; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153994091539940CT12:g.91539940C>TClinGen:CA6716885C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.967del (p.Ser323fs)1634DCNPathogenicrs80338741RCV000018366; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153994891539948GAG12:g.91539948_91539948delClinGen:CA341433,OMIM:125255.0001C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.962del (p.Lys321fs)1634DCNPathogenicrs587777258RCV000114315; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153995391539953CTC12:g.91539953_91539953delClinGen:CA269448,OMIM:125255.0004
NM_001920.5(DCN):c.947del (p.Gly316fs)1634DCNPathogenicrs397515545RCV000055876; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153996891539968TCT12:g.91539968_91539968delClinGen:CA344996,OMIM:125255.0003C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.944C>A (p.Pro315His)1634DCNLikely benignrs777270608RCV000293139; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153997191539971GT12:g.91539971G>TClinGen:CA6716898C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.941del (p.Pro314fs)1634DCNPathogenicrs80338742RCV000020465; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129153997491539974TGT12:g.91539974_91539974delClinGen:CA341874,OMIM:125255.0002C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.917T>C (p.Val306Ala)1634DCNBenignrs73358055RCV000352672|RCV000957100; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068|MedGen:CN517202129153999891539998AG12:g.91539998A>GClinGen:CA6716901
NM_001920.5(DCN):c.879C>T (p.Tyr293=)1634DCNLikely benignrs144307891RCV000405011; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129154543791545437GA12:g.91545437G>AClinGen:CA6716940
NM_001920.5(DCN):c.803C>T (p.Thr268Met)1634DCNBenignrs3138268RCV000280004|RCV000965905; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068|MedGen:CN517202129154551391545513GA12:g.91545513G>AClinGen:CA6716944,UniProtKB:P07585#VAR_014351
NM_001920.5(DCN):c.703A>C (p.Arg235=)1634DCNBenignrs3138264RCV000905834|RCV001110218; NMedGen:CN517202|MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129154691691546916TG12:g.91546916T>G-
NM_001920.5(DCN):c.671C>T (p.Thr224Met)1634DCNBenign-1RCV001110219; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129154694891546948GA12:g.91546948G>A-
NM_001920.5(DCN):c.632A>G (p.Asn211Ser)1634DCNUncertain significance-1RCV001110220; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155087291550872TC12:g.91550872T>C-
NM_001920.5(DCN):c.621T>G (p.Ile207Met)1634DCNLikely benignrs373676217RCV000335101; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155088391550883AC12:g.91550883A>CClinGen:CA6717010
NM_001920.5(DCN):c.560A>G (p.Lys187Arg)1634DCNUncertain significance-1RCV001110221; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155094491550944TC12:g.91550944T>C-
NM_001920.5(DCN):c.555G>T (p.Pro185=)1634DCNLikely benign-1RCV001110222; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155094991550949CA12:g.91550949C>A-
NM_001920.5(DCN):c.529A>T (p.Ile177Phe)1634DCNBenignrs201430261RCV000396540; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155208291552082TA12:g.91552082T>AClinGen:CA6717046
NM_001920.5(DCN):c.424A>G (p.Lys142Glu)1634DCNBenignrs142752401RCV000300052|RCV000948899; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068|MedGen:CN517202129155218791552187TC12:g.91552187T>CClinGen:CA6717065
NM_001920.5(DCN):c.282C>T (p.Thr94=)1634DCNBenignrs3138221RCV000340881|RCV000965906; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068|MedGen:CN517202129155842491558424GA12:g.91558424G>AClinGen:CA6717111
NM_001920.5(DCN):c.212-6T>C1634DCNBenignrs191218249RCV000394942; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129155850091558500AG12:g.91558500A>GClinGen:CA6717118
NM_001920.5(DCN):c.210G>A (p.Leu70=)1634DCNUncertain significance-1RCV001110969; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157212091572120CT12:g.91572120C>T-
NM_001920.5(DCN):c.127G>A (p.Asp43Asn)1634DCNUncertain significance-1RCV001110970; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157220391572203CT12:g.91572203C>T-
NM_001920.5(DCN):c.54G>A (p.Pro18=)1634DCNLikely benignrs145597441RCV000305864; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157227691572276CT12:g.91572276C>TClinGen:CA6717175C1864738 610048 Congenital Stromal Corneal Dystrophy;
NM_001920.5(DCN):c.47_50del (p.Ala16fs)1634DCNUncertain significancers1565791154RCV000779120; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157228091572283TCCAGT12:g.91572280_91572283del-
NM_001920.5(DCN):c.33A>G (p.Ala11=)1634DCNBenignrs141738168RCV000360157|RCV000957290; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068|MedGen:CN517202129157229791572297TC12:g.91572297T>CClinGen:CA6717179
NM_001920.5(DCN):c.-180A>T1634DCNUncertain significancers757178906RCV000270165; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157657891576578TA12:g.91576578T>AClinGen:CA10642602
NM_001920.5(DCN):c.-187A>G1634DCNUncertain significancers551534809RCV000306630; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157658591576585TC12:g.91576585T>CClinGen:CA10633714
NM_001920.4(DCN):c.-249A>G1634DCNLikely benignrs189853358RCV000365929; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157664791576647TC12:g.91576647T>CClinGen:CA10638787
NM_001920.4(DCN):c.-296C>T1634DCNLikely benignrs540013218RCV000271450; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157669491576694GA12:g.91576694G>AClinGen:CA10638792
NM_001920.4(DCN):c.-307A>G1634DCNUncertain significancers886049891RCV000331251; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157670591576705TC12:g.91576705T>CClinGen:CA10633718
NM_001920.4(DCN):c.-325A>G1634DCNLikely benignrs147956869RCV000385796; NMONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048, Orphanet:101068129157672391576723TC12:g.91576723T>CClinGen:CA10633719
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