MSeqDR Mitochondrial Disease Portal


 
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Diseases (C)
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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.5446dup (p.His1816fs)4053LTBP2Pathogenicrs777661862RCV000007994; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147496760674967607TTG14:g.74967606_74967607insGOMIM:602091.0005
NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter)4053LTBP2Pathogenicrs387907174RCV000024327; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147496995574969955GA14:g.74969955G>AClinGen:CA129851,OMIM:602091.0010C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)4053LTBP2Pathogenicrs387907175RCV000024328; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147497174274971742CT14:g.74971742C>TClinGen:CA129853,OMIM:602091.0011C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)4053LTBP2Conflicting interpretations of pathogenicityrs45468895RCV000967770|RCV001027830|RCV001115836|RCV001117267; NMedGen:CN517202|Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751147497534874975348GA14:g.74975348G>A-
NM_000428.3(LTBP2):c.2240A>G (p.Glu747Gly)4053LTBP2Uncertain significance-1RCV001269475; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147499531474995314TC14:g.74995314T>C-
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly)4053LTBP2Uncertain significancers199581688RCV001027831|RCV001117596|RCV001117597; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS27760147499913874999138GC14:g.74999138G>C-
NM_000428.3(LTBP2):c.1796dup (p.Val600fs)4053LTBP2Pathogenicrs1566628109RCV000024325; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147500269675002697CCG14:g.75002696_75002697insGOMIM:602091.0008
NM_000428.3(LTBP2):c.1012del (p.Ser338fs)4053LTBP2Pathogenicrs1566636728RCV000024326; NHuman Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147502221575022215GAG14:g.75022215_75022215delOMIM:602091.0009C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)4053LTBP2Pathogenicrs121918355RCV000007990|RCV000024324; NMONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763147502233275022332GA14:g.75022332G>AClinGen:CA129849,OMIM:602091.0001C2751316 613086 Glaucoma 3, primary congenital, d;
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])4053LTBP2Uncertain significancers554570575RCV000576774|RCV000768013; NMONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,O147505256575052566TTGGCGACTGTGGTGCGGGC14:g.75052565_75052566insGGCGACTGTGGTGCGGGCClinGen:CA7270082C3553785 614819 Weill-Marchesani syndrome 3;
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