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Disease Browser
Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
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Corneal endothelial dystrophy type 2 (C536439)

       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:3038
Name:Corneal endothelial dystrophy type 2
Definition:
Alternative IDs:OMIM:217700
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C536439 |C11.270.162/C536439 |C16.320.290.162/C536439
Synonyms:CHED |CHED2, FORMERLY |CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA |Congenital hereditary endothelial dystrophy of the cornea |Corneal dystrophy, congenital hereditary endothelial |CORNEAL ENDOTHELIAL DYSTROPHY |Corneal Endothelial Dystrophy 2 |CORNEA
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C536439
MeSH: C536439
OMIM: 217700;
MSeqDR LSDB:  
Genes: SLC4A11;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008005Congenital corneal dystrophy
3 HP:0007759Opacification of the corneal stroma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)83959SLC4A11Pathogenicrs121909392RCV000001374; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032089053208905CT20:g.3208905C>TOMIM:610206.0008,ClinGen:CA250444C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)83959SLC4A11Pathogenicrs121909391RCV000001372; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032089063208906GA20:g.3208906G>AClinGen:CA250442,OMIM:610206.0006C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)83959SLC4A11Pathogenicrs121909387RCV000001367; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032093303209330CT20:g.3209330C>TClinGen:CA250433,OMIM:610206.0001C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG83959SLC4A11Pathogenicrs869320617RCV000001373; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032096633209673GCAGACGGGCACCGGCCGGCC20:g.3209664_3209673delClinGen:CA354154,OMIM:610206.0007C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)83959SLC4A11Pathogenicrs121909390RCV000001370|RCV000815081|RCV001273531; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032100763210076GA20:g.3210076G>AClinGen:CA250439,OMIM:610206.0004
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)83959SLC4A11Pathogenicrs121909388RCV000001368; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032109043210904GA20:g.3210904G>AClinGen:CA250435,OMIM:610206.0002C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)83959SLC4A11Pathogenicrs121909389RCV000001369; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032112333211233CT20:g.3211233C>TClinGen:CA250437,OMIM:610206.0003C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)83959SLC4A11Pathogenicrs1363770105RCV000825571; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032116373211637GT20:g.3211637G>T-
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs)83959SLC4A11Pathogenicrs797045107RCV000190625; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032148193214827TGGCGAAGCG20:g.3214820_3214827delClinGen:CA251305
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)83959SLC4A11Uncertain significancers752287261RCV000490343; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032148223214822CT20:g.3214822C>TClinGen:CA9742292
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs)83959SLC4A11Pathogenicrs869320720RCV000001371; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:2936032032149443214947GTTCTG20:g.3214944_3214947delClinGen:CA358680,OMIM:610206.0005
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