MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Amyloidosis, Familial (D028226)
Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Corneal dystrophy, gelatinous drop-like (C535480)

       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:3024
Name:Corneal dystrophy, gelatinous drop-like
Definition:
Alternative IDs:DO:DOID:0060449|OMIM:204870
ParentIDs:MESH:D003317|MESH:D028226
TreeNumbers:C11.204.236/C535480 |C11.270.162/C535480 |C16.320.290.162/C535480 |C16.320.565.176/C535480 |C18.452.648.176/C535480 |C18.452.845.500.075/C535480
Synonyms:Amyloid corneal dystrophy, Japanese type |Amyloidosis, corneal |CDGDL |Corneal amyloidosis |Corneal dystrophy, Lattice type 3 |Corneal Dystrophy, Lattice Type III |GDLD |Gelatinous drop-like corneal dystrophy |Lattice corneal dystrophy type3 |Lattice Corneal Dyst
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C535480
MeSH: C535480
OMIM: 204870;
MSeqDR LSDB:  
Genes: TACSTD2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011463Childhood onset
3 HP:0000622Blurred vision
4 HP:0001131Corneal dystrophy
5 HP:0000613Photophobia
6 HP:0007663Reduced visual acuity
7 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002353.3(TACSTD2):c.*751C>A4070TACSTD2Likely benignrs570481691RCV000391924; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904110659041106GT1:g.59041106G>TClinGen:CA10610205
NM_002353.3(TACSTD2):c.*656T>A4070TACSTD2Uncertain significancers181590097RCV000351771; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904120159041201AT1:g.59041201A>TClinGen:CA10610541
NM_002353.3(TACSTD2):c.*645T>C4070TACSTD2Uncertain significance-1RCV001097968; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904121259041212AG1:g.59041212A>G-
NM_002353.3(TACSTD2):c.*637G>A4070TACSTD2Benignrs7333RCV000391954; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904122059041220CT1:g.59041220C>TClinGen:CA10611304
NM_002353.3(TACSTD2):c.*565G>T4070TACSTD2Benignrs528472691RCV000297883; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904129259041292CA1:g.59041292C>AClinGen:CA10610545
NM_002353.3(TACSTD2):c.*421A>G4070TACSTD2Benignrs9583RCV000355047; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904143659041436TC1:g.59041436T>CClinGen:CA10611306
NM_002353.3(TACSTD2):c.*396T>C4070TACSTD2Likely benignrs41313365RCV000404000; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904146159041461AG1:g.59041461A>GClinGen:CA10611307
NM_002353.3(TACSTD2):c.*298A>C4070TACSTD2Uncertain significance-1RCV001099759; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904155959041559TG1:g.59041559T>G-
NM_002353.3(TACSTD2):c.*281A>C4070TACSTD2Uncertain significance-1RCV001099760; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904157659041576TG1:g.59041576T>G-
NM_002353.3(TACSTD2):c.*280T>C4070TACSTD2Benignrs3551RCV000301250; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904157759041577AG1:g.59041577A>GClinGen:CA10610547
NM_002353.3(TACSTD2):c.*236C>G4070TACSTD2Uncertain significance-1RCV001099761; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904162159041621GC1:g.59041621G>C-
NM_002353.3(TACSTD2):c.*226C>A4070TACSTD2Benignrs80012655RCV000358424; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904163159041631GT1:g.59041631G>TClinGen:CA10610206
NM_002353.3(TACSTD2):c.*202A>G4070TACSTD2Benignrs41313363RCV000265932; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904165559041655TC1:g.59041655T>CClinGen:CA10611308
NM_002353.3(TACSTD2):c.*166C>T4070TACSTD2Benignrs7355042RCV000323278; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904169159041691GA1:g.59041691G>AClinGen:CA10610207
NM_002353.3(TACSTD2):c.*98C>T4070TACSTD2Likely benignrs72672295RCV000361804; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904175959041759GA1:g.59041759G>AClinGen:CA10611309
NM_002353.3(TACSTD2):c.*94G>A4070TACSTD2Uncertain significancers182546579RCV000269522; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904176359041763CT1:g.59041763C>TClinGen:CA10611428
NM_002353.3(TACSTD2):c.*59A>C4070TACSTD2Uncertain significancers886046456RCV000326663; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904179859041798TG1:g.59041798T>GClinGen:CA10611430
NM_002353.3(TACSTD2):c.*48G>A4070TACSTD2Benignrs41311174RCV000383611; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904180959041809CT1:g.59041809C>TClinGen:CA877277
NM_002353.3(TACSTD2):c.*6C>T4070TACSTD2Uncertain significance-1RCV001101743; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904185159041851GA1:g.59041851G>A-
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)4070TACSTD2Benign-1RCV001096328; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904193059041930CT1:g.59041930C>T-
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)4070TACSTD2Benignrs114373153RCV000291782|RCV000958457; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957|MedGen:CN51720215904194059041940TC1:g.59041940T>CClinGen:CA877308
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)4070TACSTD2Benignrs12121124RCV000330312; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904200159042001GA1:g.59042001G>AClinGen:CA877322
NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp)4070TACSTD2Uncertain significancers769179472RCV000386862; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904200259042002CT1:g.59042002C>TClinGen:CA877323
NM_002353.3(TACSTD2):c.762G>A (p.Glu254=)4070TACSTD2Likely benignrs144787622RCV000294915; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904206759042067CT1:g.59042067C>TClinGen:CA877338
NM_002353.3(TACSTD2):c.735C>T (p.Arg245=)4070TACSTD2Conflicting interpretations of pathogenicityrs145491347RCV000887978|RCV001096329; NMedGen:CN517202|MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904209459042094GA1:g.59042094G>A-
NM_002353.3(TACSTD2):c.720C>A (p.Gly240=)4070TACSTD2Uncertain significance-1RCV001096330; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904210959042109GT1:g.59042109G>T-
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)4070TACSTD2Benignrs14008RCV000352006; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904218159042181GT1:g.59042181G>TClinGen:CA877376,UniProtKB:P09758#VAR_016981
NM_002353.3(TACSTD2):c.632del (p.Gln211fs)4070TACSTD2Pathogenicrs1569579635RCV000017569; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904219759042197CTC1:g.59042197_59042197delOMIM:137290.0004C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)4070TACSTD2Pathogenicrs80358224RCV000017567; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904221059042210GA1:g.59042210G>AClinGen:CA126246,OMIM:137290.0002C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)4070TACSTD2Pathogenicrs80358228RCV000017573; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904227259042272AG1:g.59042272A>GClinGen:CA126254,OMIM:137290.0008C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)4070TACSTD2Benignrs35075952RCV000398744; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904231159042311TG1:g.59042311T>GUniProtKB:P09758#VAR_012451,ClinGen:CA877410
NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)4070TACSTD2Pathogenicrs80358225RCV000017568; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904232059042320GT1:g.59042320G>TClinGen:CA126248,OMIM:137290.0003C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)4070TACSTD2Benignrs1062964RCV000279707; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904238859042388CG1:g.59042388C>GClinGen:CA877427,UniProtKB:P09758#VAR_051407
NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)4070TACSTD2Pathogenicrs80358227RCV000017571; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904247459042474AT1:g.59042474A>TClinGen:CA126252,OMIM:137290.0006C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)4070TACSTD2Pathogenicrs80358223RCV000017566; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904247759042477GA1:g.59042477G>AClinGen:CA126244,OMIM:137290.0001C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly)4070TACSTD2Uncertain significancers772658288RCV000337050; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904257259042572GC1:g.59042572G>CClinGen:CA877462
NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser)4070TACSTD2Uncertain significancers777212159RCV000393938; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904265459042654CT1:g.59042654C>TClinGen:CA877479
NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro)4070TACSTD2Uncertain significance-1RCV001098063; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904282159042821CG1:g.59042821C>G-
NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)4070TACSTD2Pathogenicrs80358226RCV000017570; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904282759042827AC1:g.59042827A>CClinGen:CA126250,OMIM:137290.0005C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.-1C>A4070TACSTD2Benignrs232836RCV000302104; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904282959042829GT1:g.59042829G>TClinGen:CA877503
NM_002353.3(TACSTD2):c.-54A>C4070TACSTD2Benignrs232835RCV000358684; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904288259042882TG1:g.59042882T>GClinGen:CA10610550CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.-56C>T4070TACSTD2Uncertain significancers774270086RCV000393929; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904288459042884GA1:g.59042884G>AClinGen:CA10610551
NM_002353.3(TACSTD2):c.-56C>G4070TACSTD2Uncertain significancers774270086RCV000305554; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904288459042884GC1:g.59042884G>CClinGen:CA10611320
NM_002353.2(TACSTD2):c.-104C>G4070TACSTD2Uncertain significancers886046457RCV000362550; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904293259042932GC1:g.59042932G>CClinGen:CA10610214
NC_000001.11:g.58577268C>T4070TACSTD2Uncertain significance-1RCV001099851; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904294059042940CT1:g.59042940C>T-
NC_000001.11:g.58577316G>C4070TACSTD2Uncertain significance-1RCV001099852; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904298859042988GC1:g.59042988G>C-
NM_002353.2(TACSTD2):c.-169G>A4070TACSTD2Benignrs61779294RCV000270226; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904299759042997CT1:g.59042997C>TClinGen:CA10611321
NC_000001.11:g.58577355C>T4070TACSTD2Uncertain significance-1RCV001099853; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904302759043027CT1:g.59043027C>T-
NC_000001.11:g.58577397G>C4070TACSTD2Uncertain significance-1RCV001099854; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904306959043069GC1:g.59043069G>C-
NM_002353.2(TACSTD2):c.-269G>C4070TACSTD2Uncertain significancers886046458RCV000327661; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904309759043097CG1:g.59043097C>GClinGen:CA10611439CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.2(TACSTD2):c.-314G>A4070TACSTD2Likely benignrs546965754RCV000365871; NMONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:9895715904314259043142CT1:g.59043142C>TClinGen:CA10610565CN239339 Corneal Dystrophy, Dominant/Recessive;
MSeqDR Portal