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:
expandCorneal Dystrophies, Hereditary (D003317)
..Starting node
..expandGroenouw type I corneal dystrophy (C537304)

       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:5282
Name:Groenouw type I corneal dystrophy
Definition:
Alternative IDs:OMIM:121900
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C537304 |C11.270.162/C537304 |C16.320.290.162/C537304
Synonyms:CDGG1 |Corneal dystrophy granular type |CORNEAL DYSTROPHY, GROENOUW TYPE I |Corneal dystrophy punctate or nodular |Corneal Dystrophy, Punctate or Nodular |GCD1 |Granular Corneal Dystrophy, Type I
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C537304
MeSH: C537304
OMIM: 121900;
MSeqDR LSDB:  
Genes: TGFBI;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000518Cataract
NAMDC:  Cataracts
3 HP:0007802Granular corneal dystrophy
4 HP:0007827Nodular corneal dystrophy
5 HP:0007809Punctate corneal dystrophy
6 HP:0000486Strabismus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)7045TGFBIPathogenicrs121909210RCV000008322|RCV002466396; NMONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962|MONDO:MONDO:0000764,MedGen:CN32264351353820951353820955:g.135382095C>AClinGen:CA119125,UniProtKB:Q15582#VAR_012444,OMIM:601692.0008C1641846 121900 Groenouw corneal dystrophy type I;
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser)7045TGFBIUncertain significancers777288957RCV000490305|RCV001152421; NMONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962; MONDO:MONDO:0012044,MedGen:C1837974,OMIM:608471, Orphanet:98964|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345335135392437135392437NC_000005.9:g.135392437A>GClinGen:CA3420472C1641846 121900 Groenouw corneal dystrophy type I;
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)7045TGFBIPathogenicrs121909208RCV000008315|RCV002227439|RCV002288474; NMONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962|7 conditions|MONDO:MONDO:0007380,MedGen:C1690006,OMIM:122200, Orphanet:9896451353924691353924695:g.135392469C>TClinGen:CA119119,UniProtKB:Q15582#VAR_005083,OMIM:601692.0001C1641846 121900 Groenouw corneal dystrophy type I;
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val)7045TGFBILikely pathogenic-1RCV001807998; NMONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:989625135396574135396574135396574-
MSeqDR Portal