Disease Browser
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Parent Node:
Corneal Dystrophies, Hereditary (D003317) | ..Starting node .. Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
| Child Nodes:
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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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 3030 |
Name: | Corneal Dystrophy, Posterior Polymorphous, 1 |
Definition: | |
Alternative IDs: | DO:DOID:0060457|OMIM:122000 |
ParentIDs: | MESH:D003317 |
TreeNumbers: | C11.204.236/C562745 |C11.270.162/C562745 |C16.320.290.162/C562745 |
Synonyms: | CHED1, FORMERLY |Corneal Dystrophy, Hereditary Polymorphous Posterior |CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT, FORMERLY |MAUMENEE CORNEAL DYSTROPHY |Posterior Polymorphous Corneal Dystrophy |PPCD |PPCD1 |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: C562745
MeSH: C562745
OMIM: 122000; MSeqDR : Genes: VSX1; | 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_021220.4(OVOL2):c.-274T>G | 58495 | OVOL2 | Pathogenic | rs869320630 | RCV000210412; | N | Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973 | 20 | 18038552 | 18038552 | A | C | 20:g.18038552A>C | OMIM:616441.0004,ClinGen:CA358740 | | | NM_001303461.1(OVOL2):c.-297+949T>C | 58495 | OVOL2 | Pathogenic | rs869320629 | RCV000210427; | N | Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973 | 20 | 18038585 | 18038585 | A | G | 20:g.18038585A>G | ClinGen:CA358742,OMIM:616441.0003 | CN029625 122000 Posterior polymorphous corneal dystrophy 1; | | NM_001303461.1(OVOL2):c.-297+895_-297+916dup | 58495 | OVOL2 | Pathogenic | rs869320627 | RCV000210432; | N | Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973 | 20 | 18038617 | 18038618 | A | ACCGGTTCCGGCGGCCGGGGCTG | 20:g.18038617_18038618insCCGGTTCCGGCGGCCGGGGCTG | ClinGen:CA358743,OMIM:616441.0001 | CN029625 122000 Posterior polymorphous corneal dystrophy 1; | | NM_001303461.1(OVOL2):c.-297+886T>C | 58495 | OVOL2 | Pathogenic | rs869320628 | RCV000210419; | N | Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973 | 20 | 18038648 | 18038648 | A | G | 20:g.18038648A>G | OMIM:616441.0002,ClinGen:CA358741 | | | NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) | 83959 | SLC4A11 | Conflicting interpretations of pathogenicity | rs34224785 | RCV000948021|RCV000991066|RCV001143497|RCV001276999; | N | MedGen:CN517202|Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM: | 20 | 3208967 | 3208967 | C | T | 20:g.3208967C>T | - | | | NM_014588.5(VSX1):c.479G>A (p.Gly160Asp) | 30813 | VSX1 | Conflicting interpretations of pathogenicity | rs74315433 | RCV000005560|RCV000358879|RCV000454465; | N | Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973|Human Phenotype Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000, Orphanet:98973|MedGen:CN169374 | 20 | 25060096 | 25060096 | C | T | 20:g.25060096C>T | ClinGen:CA117355,UniProtKB:Q9NZR4#VAR_014245,OMIM:605020.0002 | CN169374 not specified; | |
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