MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
expandCorneal Dystrophies, Hereditary (D003317)
Parent Node:
expandDiseases (C)
Parent Node:
expandMicrophthalmos (D008850)
Parent Node:
expandTelecanthus (C562941)
..Starting node
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)

       Child Nodes:



 Sister Nodes: 
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7966
Name:MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
Definition:
Alternative IDs:
ParentIDs:MESH:C562941|MESH:D003317|MESH:D008850
TreeNumbers:C05.660.207/C562941/615458 |C11.204.236/615458 |C11.250.566/615458 |C11.270.162/615458 |C16.131.384.666/615458 |C16.131.621.207/C562941/615458 |C16.320.290.162/615458
Synonyms:MMCAT
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: 615458
MeSH: 615458
OMIM: 615458;
MSeqDR LSDB:  
Genes: ADAMTS18;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000455Broad nasal tip
3 HP:0000482Microcornea
4 HP:0007787Posterior subcapsular cataractHP:0040283
5 HP:0000358Posteriorly rotated ears
6 HP:0000506Telecanthus
7 HP:0000445Wide nose
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter)170692ADAMTS18Pathogenicrs397515467RCV000056279; NMONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970167735633177356331CA16:g.77356331C>AClinGen:CA144840,OMIM:607512.0003C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)170692ADAMTS18Pathogenicrs148319220RCV000056278; NMONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970167736978177369781GC16:g.77369781G>CClinGen:CA144839,UniProtKB:Q8TE60#VAR_070850,OMIM:607512.0002C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro)170692ADAMTS18Pathogenicrs397515468RCV000056280; NMONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970167740151177401511AG16:g.77401511A>GClinGen:CA144842,UniProtKB:Q8TE60#VAR_070849,OMIM:607512.0004C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His)170692ADAMTS18Benignrs11643211RCV000989637; NMONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970167740154577401545AG16:g.77401545A>G-
NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter)170692ADAMTS18Pathogenicrs397515469RCV000056281; NMONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970167746839677468396GA16:g.77468396G>AClinGen:CA144843,OMIM:607512.0005C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
MSeqDR Portal