MSeqDR Mitochondrial Disease Portal


 
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Ectopia Lentis (D004479)
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Megalocornea (C562829)
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Microspherophakia (C563255)
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MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)

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..expandMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8018
Name:MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
Definition:
Alternative IDs:
ParentIDs:MESH:C562829|MESH:C563255|MESH:D004479
TreeNumbers:C11.204/C563255/251750 |C11.250.300/251750 |C11.250.300/C563255/251750 |C11.270/C562829/251750 |C11.510.598.373/251750 |C11.510.598.373/C563255/251750 |C11.525.381/C563255/251750 |C16.131.384.405/251750 |C16.131.384.405/C563255/251750 |C16.320.290/C562829/251750 |
Synonyms:MSPKA
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)
Reference: MedGen: 251750
MeSH: 251750
OMIM: 251750;
MSeqDR LSDB:  
Genes: LTBP2; PNPLA2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007765Deep anterior chamberHP:0040283
3 HP:0001083Ectopia lentis
4 HP:0000218High palateHP:0040283
5 HP:0000540HypermetropiaHP:0040283
6 HP:0100693IridodonesisHP:0040283
7 HP:0000485Megalocornea
8 HP:0030961Microspherophakia
9 HP:0000767Pectus excavatumHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000428.3(LTBP2):c.*10dup4053LTBP2Uncertain significance546442756RCV000369662|RCV000394332|RCV002502229; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orpha14749675767496757714:g.74967576_74967577insCClinGen:CA7268389C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)4053LTBP2Uncertain significance191944410RCV001966384|RCV002484845; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O14749676367496763674967636-
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)4053LTBP2Uncertain significance370119182RCV001979961|RCV002507673; NMedGen:C3661900|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O14749695847496958474969584-
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln)4053LTBP2Uncertain significance371346534RCV001975314|RCV002484825|RCV002074444|RCV003224599; NMedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914749695927496959274969592-
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)4053LTBP2Uncertain significance137854860RCV000114815|RCV001854539|RCV002498491|RCV003448265; NMedGen:C0339573,OMIM:137760|MedGen:C3661900|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,14749696147496961414:g.74969614C>TClinGen:CA151349C0339573 137760 Primary open angle glaucoma;
NM_000428.3(LTBP2):c.4888+18G>A4053LTBP2Benign73296217RCV002127490|RCV002494301; NMedGen:C3661900|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914749699047496990474969904-
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)4053LTBP2Uncertain significance141230498RCV001878499|RCV002503395|RCV003247061; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,14749699337496993374969933-
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)4053LTBP2Uncertain significance745626701RCV002022713|RCV002479740; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O14749700387497003874970038-
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)4053LTBP2Conflicting interpretations of pathogenicity147213897RCV001886292|RCV002482631; NMedGen:C3661900|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,14749702727497027274970272-
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)4053LTBP2Conflicting interpretations of pathogenicity117800773RCV000348233|RCV000295696|RCV000576765|RCV000912675|RCV003224258; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449|MedGen:C3661900|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,147497069574970695NC_000014.8:g.74970695C>TClinGen:CA7268735C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)4053LTBP2Uncertain significance758952168RCV002022312|RCV002479653; NMedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914749706987497069874970698-
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)4053LTBP2Likely pathogenic387907175RCV000024328|RCV003338387; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:23876314749717427497174214:g.74971742C>TClinGen:CA129853,OMIM:602091.0011C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)4053LTBP2Uncertain significance150484024RCV000361845|RCV000304849|RCV001850659|RCV002522324|RCV002494984; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:00109147497177074971770NC_000014.8:g.74971770G>AClinGen:CA7268800C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)4053LTBP2Uncertain significance764828666RCV002026497|RCV002507807; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,14749718097497180974971809-
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)4053LTBP2Conflicting interpretations of pathogenicity139138043RCV000913257|RCV003224492; NMedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:23876314749728567497285614:g.74972856C>A-
NM_000428.3(LTBP2):c.4033+1G>C4053LTBP2Pathogenic-1RCV003314410; NMONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763147497340074973400-
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)4053LTBP2Uncertain significance-1RCV003224703; NMONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976147497349474973494-
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)4053LTBP2Uncertain significance201430837RCV001120861|RCV001120862|RCV002482223; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; 14749760287497602814:g.74976028C>T-
NM_000428.3(LTBP2):c.2788+14G>A4053LTBP2Uncertain significance753628301RCV000268816|RCV000365669|RCV002494985; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976147498860074988600NC_000014.8:g.74988600C>TClinGen:CA7269387C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr)4053LTBP2Uncertain significance137914200RCV001945915|RCV002503640; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914749886447498864474988644-
NM_000428.3(LTBP2):c.2389-2A>G4053LTBP2Likely pathogenic1327636983RCV002038288|RCV002507788; NMedGen:C3661900|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O14749928197499281974992819-
NM_000428.3(LTBP2):c.2388+8C>T4053LTBP2Conflicting interpretations of pathogenicity201838800RCV001119095|RCV001119094|RCV002505694|RCV002556536; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; 14749940427499404214:g.74994042G>A-
NM_000428.3(LTBP2):c.1686+3G>A4053LTBP2Uncertain significance190814774RCV000731541|RCV001121189|RCV001121190|RCV002507297; NMedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:60097147501776475017764NC_000014.8:g.75017764C>T-
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)4053LTBP2Uncertain significance139904243RCV001772598|RCV002540324|RCV002506768; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:00138914750179667501796675017966-
NM_000428.3(LTBP2):c.1399+10G>T4053LTBP2Conflicting interpretations of pathogenicity143528294RCV000899010|RCV001116270|RCV001116269|RCV003224489; NMedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:6130814750188807501888014:g.75018880C>A-
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)4053LTBP2Conflicting interpretations of pathogenicity371940681RCV000305545|RCV000341687|RCV002504081|RCV003338571|RCV002520920|RCV003165847; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; 147501898875018988NC_000014.8:g.75018988G>AClinGen:CA7269924C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)4053LTBP2Uncertain significance148766628RCV002011585|RCV002492361|RCV002548156; NMedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914750222777502227775022277-
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)4053LTBP2Pathogenic121918355RCV000007990|RCV000024324|RCV001311363|RCV003313914; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|Human Phenotype Ontology:HP:0030961,MedGen:C1562061|MedGen:C3661900|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:23876314750223327502233214:g.75022332G>AClinGen:CA129849,OMIM:602091.0001C2751316 613086 Glaucoma 3, primary congenital, d;
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)4053LTBP2Benign143106228RCV000906608|RCV002502704; NMedGen:C3661900|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481914750526027505260214:g.75052602G>A-
NM_000428.3(LTBP2):c.654C>T (p.Cys218=)4053LTBP2Conflicting interpretations of pathogenicity375324850RCV001866526|RCV002489959; NMedGen:C3661900|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,14750527337505273375052733-
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg)4053LTBP2Uncertain significance374099324RCV001117818|RCV001117817|RCV001856547|RCV002505692; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MedGen:C3661900|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,14750528007505280014:g.75052800T>C-
NM_000428.3(LTBP2):c.-93C>T4053LTBP2Uncertain significance769936231RCV000267683|RCV000357706|RCV002487389; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976147507874075078740NC_000014.8:g.75078740G>AClinGen:CA10646101C1533041 Primary congenital glaucoma;
MSeqDR Portal