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:
expand
Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)

       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:3025
Name:Corneal Dystrophy, Juvenile Epithelial of Meesmann
Definition:An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.
Alternative IDs:DO:DOID:0060451|OMIM:122100
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236.218 |C11.270.162.218 |C16.320.290.162.204
Synonyms:Corneal Dystrophies, Meesmann |CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN |Corneal Dystrophy, Meesmann |Corneal Dystrophy, Meesmann Epithelial |Dystrophies, Meesmann Corneal |Juvenile Hereditary Epithelial Dystrophy |MECD |Meesmann Corneal Dystrophies |
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: D053559
MeSH: D053559
OMIM: 122100;
MSeqDR LSDB:  
Genes: KRT12; KRT3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001131Corneal dystrophy
3 HP:0009926Epiphora
4 HP:0003680Nonprogressive
5 HP:0000613Photophobia
6 HP:0007856Punctate opacification of the cornea
7 HP:0007663Reduced visual acuity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)3859KRT12Pathogenicrs58162394RCV000008387|RCV000056412; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173901940639019406AC17:g.39019406A>CClinGen:CA119161,UniProtKB:Q99456#VAR_008528,OMIM:601687.0005C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)3859KRT12Pathogenicrs58343600RCV000008384|RCV000056426; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902301239023012CG17:g.39023012C>GClinGen:CA119158,UniProtKB:Q99456#VAR_003835,OMIM:601687.0002C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)3859KRT12Pathogenicrs58918655RCV000008388|RCV000056425; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902302039023020AC17:g.39023020A>CClinGen:CA119162,UniProtKB:Q99456#VAR_008527,OMIM:601687.0006C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)3859KRT12Pathogenicrs57218384RCV000008383|RCV000056421; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902303539023035CG17:g.39023035C>GClinGen:CA119157,UniProtKB:Q99456#VAR_003834,OMIM:601687.0001C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)3859KRT12Pathogenicrs57218384RCV000008386|RCV000056422; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902303539023035CA17:g.39023035C>AClinGen:CA119160,UniProtKB:Q99456#VAR_008525,OMIM:601687.0004C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)3859KRT12Pathogenicrs58410481RCV000008385|RCV000056420; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902303639023036TC17:g.39023036T>CClinGen:CA119159,UniProtKB:Q99456#VAR_008526,OMIM:601687.0003C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)3859KRT12Pathogenicrs886038212RCV000252858; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954173902304439023044AG17:g.39023044A>GClinGen:CA10586701,UniProtKB:Q99456#VAR_072070,OMIM:601687.0008C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)3859KRT12Pathogenicrs28936695RCV000008389|RCV000056417; NHuman Phenotype Ontology:HP:0007755,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202173902305339023053AG17:g.39023053A>GClinGen:CA119163,UniProtKB:Q99456#VAR_013126,OMIM:601687.0007C0339277 122100 Meesman's corneal dystrophy;
MSeqDR Portal