MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6752
Name:Lacrimal Duct Obstruction
Definition:Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)
Alternative IDs:DO:DOID:13929|OMIM:149700
ParentIDs:MESH:D007766
TreeNumbers:C11.496.456
Synonyms:Duct Obstruction, Lacrimal |Duct Obstructions, Lacrimal |Duct Obstructions, Tear |Duct Obstruction, Tear |LACRIMAL DUCT DEFECT |Lacrimal Duct Obstructions |LACRIMAL PUNCTA, ABSENCE OF |LCDD |NASOLACRIMAL DUCT OBSTRUCTION |Obstruction, Lacrimal Duct |Obstructions,
Slim Mappings:Eye disease
Reference: MedGen: D007767
MeSH: D007767
OMIM: 149700;
MSeqDR LSDB:  
Genes: IGSF3; MLYCD;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000509ConjunctivitisHP:0040283
4 HP:0000620DacryocystitisHP:0040283
5 HP:0030752Dacryocystocele
6 HP:0009926Epiphora
7 HP:0000564Lacrimal duct atresia
8 HP:0100539Periorbital edemaHP:0040283
9 HP:0000246SinusitisHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001007237.3(IGSF3):c.2935del (p.Arg979fs)3321IGSF3Pathogenicrs724160030RCV000149880; NMONDO:MONDO:0007871,MedGen:C1835612,OMIM:149700, Orphanet:4516121117122413117122413CGC1:g.117122413_117122413delClinGen:CA175084,OMIM:603491.0001C1835612 149700 Lacrimal duct defect;
MSeqDR Portal