Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317) ..Starting node .. Corneal dystrophy, Thiel-Behnke type (C535942) 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 Franč½ois (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: 3034
Name: Corneal dystrophy, Thiel-Behnke type
Definition:
Alternative IDs: DO:DOID:0060455|OMIM:602082
ParentIDs: MESH:D003317
TreeNumbers: C11.204.236/C535942 |C11.270.162/C535942 |C16.320.290.162/C535942
Synonyms: CDB2 |CDTB |Corneal dystrophy honeycomb-shaped |Corneal Dystrophy, Honeycomb-Shaped |Corneal Dystrophy Of Bowman Layer, Type II |Corneal dystrophy of the Bowman layer, type 2 |TBCD |Thiel-Behnke corneal dystrophy
Slim Mappings: Eye disease|Genetic disease (inborn)
Reference:
MedGen: C535942
MeSH: C535942
OMIM: 602082 ; MSeqDR : Genes: CDB2 ; GIPC3 ; TGFBI ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar NM_005993.5(TBCD):c.2137C>G (p.His713Asp) 6904 TBCD Uncertain significance rs200903034 RCV000714528|RCV000714529 ; N MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082, Orphanet:98960|MONDO:MONDO:0044646,MedGen:C4310671,OMIM:617193, Orphanet:496641 17 80879412 80879412 NC_000017.10:g.80879412C>G - NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) 6904 TBCD Conflicting interpretations of pathogenicity rs369672739 RCV000714530|RCV000714531|RCV002060896 ; N MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082, Orphanet:98960|MONDO:MONDO:0044646,MedGen:C4310671,OMIM:617193, Orphanet:496641|MedGen:CN517202 17 80890546 80890546 NC_000017.10:g.80890546G>A - NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) 7045 TGFBI Pathogenic rs121909209 RCV000008316|RCV002512900 ; N MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082, Orphanet:98960|MedGen:CN517202 5 135392470 135392470 5:g.135392470G>A ClinGen:CA119120,UniProtKB:Q15582#VAR_005082,OMIM:601692.0002 C1562894 602082 Thiel-Behnke corneal dystrophy; NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) 7045 TGFBI Likely pathogenic rs1751703312 RCV001267812 ; N MONDO:MONDO:0011185,MedGen:C1562894,OMIM:602082, Orphanet:98960 5 135394872 135394872 5:g.135394872C>A -
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