MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandCorneal Dystrophies, Hereditary (D003317)
..Starting node
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)

       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:3028
Name:Corneal dystrophy of Bowman layer, type 1
Definition:
Alternative IDs:DO:DOID:0060453|OMIM:608470
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C535476 |C11.270.162/C535476 |C16.320.290.162/C535476
Synonyms:CDB1 |CDRB |Corneal dystrophy, geographic |Corneal Dystrophy Of Bowman Layer, Type I |Corneal dystrophy, Reis-Bucklers type |Granular Corneal Dystrophy, Type III |RBCD |Reis-Bucklers corneal dystrophy |Reis-Bucklers dystrophy
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C535476
MeSH: C535476
OMIM: 608470;
MSeqDR LSDB:  
Genes: TGFBI;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001131Corneal dystrophy
3 HP:0200020Corneal erosion
4 HP:0007759Opacification of the corneal stroma
5 HP:0000613Photophobia
6 HP:0000486Strabismus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)7045TGFBIPathogenic121909211RCV000008321|RCV000995667; NMONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470, Orphanet:98961|MONDO:MONDO:0011855,MedGen:C1275685,OMIM:607541, Orphanet:9896351353820961353820965:g.135382096G>TClinGen:CA119124,UniProtKB:Q15582#VAR_005078,OMIM:601692.0007C0339278 608470 Reis-Bucklers' corneal dystrophy;
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)7045TGFBILikely pathogenic-1RCV003314513; NMONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470, Orphanet:989615135391475135391476-
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del)7045TGFBIPathogenic2126915359RCV000008319; NMONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470, Orphanet:989615135392424135392426135392423OMIM:601692.0006
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp)7045TGFBIPathogenic121909215RCV000008325; NMONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470, Orphanet:9896151353965871353965875:g.135396587G>AClinGen:CA119127,UniProtKB:Q15582#VAR_018487,OMIM:601692.0011C0339278 608470 Reis-Bucklers' corneal dystrophy;
MSeqDR Portal