MCID: LCR013
MIFTS: 32

Lacrimal Duct Defect

Categories: Genetic diseases, Eye diseases, Smell/Taste diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lacrimal Duct Defect

MalaCards integrated aliases for Lacrimal Duct Defect:

Name: Lacrimal Duct Defect 57 75 29 6 40
Nasolacrimal Duct Obstruction 57 75 29 6
Lcdd 57 75
Familial Congenital Nasolacrimal Duct Obstruction 59
Lacrimal Puncta, Absence of 57
Lacrimal Duct Obstruction 75

Characteristics:

Orphanet epidemiological data:

59
familial congenital nasolacrimal duct obstruction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32

Classifications:



Summaries for Lacrimal Duct Defect

OMIM : 57 Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011). Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010). (149700)

MalaCards based summary : Lacrimal Duct Defect, also known as nasolacrimal duct obstruction, is related to lacrimal duct obstruction and growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction. An important gene associated with Lacrimal Duct Defect is IGSF3 (Immunoglobulin Superfamily Member 3). Affiliated tissues include eye, and related phenotypes are sinusitis and conjunctivitis

UniProtKB/Swiss-Prot : 75 Lacrimal duct defect: A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus.

Related Diseases for Lacrimal Duct Defect

Graphical network of the top 20 diseases related to Lacrimal Duct Defect:



Diseases related to Lacrimal Duct Defect

Symptoms & Phenotypes for Lacrimal Duct Defect

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis (in some patients)

Head And Neck Nose:
intranasal cystic mass (in some patients)

Head And Neck Eyes:
epiphora
imperforate nasolacrimal ducts
absent puncta
absent canaliculi
dacryocystocele
more

Clinical features from OMIM:

149700

Human phenotypes related to Lacrimal Duct Defect:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 occasional (7.5%) HP:0000246
2 conjunctivitis 32 occasional (7.5%) HP:0000509
3 lacrimal duct atresia 32 HP:0000564
4 dacryocystitis 32 occasional (7.5%) HP:0000620
5 epiphora 32 HP:0009926
6 dacryocystocele 32 HP:0030752
7 periorbital edema 32 occasional (7.5%) HP:0100539

Drugs & Therapeutics for Lacrimal Duct Defect

Search Clinical Trials , NIH Clinical Center for Lacrimal Duct Defect

Genetic Tests for Lacrimal Duct Defect

Genetic tests related to Lacrimal Duct Defect:

# Genetic test Affiliating Genes
1 Nasolacrimal Duct Obstruction 29
2 Lacrimal Duct Defect 29 IGSF3

Anatomical Context for Lacrimal Duct Defect

MalaCards organs/tissues related to Lacrimal Duct Defect:

41
Eye

Publications for Lacrimal Duct Defect

Articles related to Lacrimal Duct Defect:

(show top 50) (show all 81)
# Title Authors Year
1
Anisometropia and Refractive Status in Children with Bilateral Congenital Nasolacrimal Duct Obstruction. ( 29544578 )
2018
2
The Relationship between Primary Acquired Nasolacrimal Duct Obstruction and Gastroesophageal Reflux. ( 29897254 )
2018
3
Anisometropia and refractive status in children with unilateral congenital nasolacrimal duct obstruction. ( 29675347 )
2018
4
Endoscopic intranasal findings in unilateral primary acquired nasolacrimal duct obstruction. ( 28860907 )
2017
5
Modeling Chronic Dacryocystitis in Rabbits by Nasolacrimal Duct Obstruction with Self-Curing Resin. ( 28717520 )
2017
6
Primary endoscopic endonasal dacryocystorhinostomy for pediatric nasolacrimal duct obstruction: A systematic review. ( 28859711 )
2017
7
Primary nonendoscopic endonasal versus external dacryocystorhinostomy in nasolacrimal duct obstruction in children. ( 29044069 )
2017
8
Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction. ( 28847443 )
2017
9
Congenital Cataract, Nasolacrimal Duct Obstruction, and Methicillin-Resistant Staphylococcus aureus Conjunctivitis: When to Operate? ( 27383382 )
2016
10
Comparison of Anisometropia and Refractive Status in Children With Unilateral and Bilateral Congenital Nasolacrimal Duct Obstruction. ( 27224951 )
2016
11
Nasolacrimal duct obstruction: Does it really increase the risk of amblyopia in children? ( 27609160 )
2016
12
Microbiology of primary acquired nasolacrimal duct obstruction: simple epiphora, acute dacryocystitis, and chronic dacryocystitis. ( 26955261 )
2016
13
Association between congenital nasolacrimal duct obstruction and delivery by cesarean section. ( 24971571 )
2015
14
Modified External Dacryocystorhinostomy in Primary Acquired Nasolacrimal Duct Obstruction. ( 26557549 )
2015
15
A comparison between monocanalicular and pushed monocanalicular silicone intubation in the treatment of congenital nasolacrimal duct obstruction. ( 25540762 )
2014
16
Dacryocystitis following a nasolacrimal duct obstruction caused by an ectopic intranasal tooth in a dog. ( 25312093 )
2014
17
Office probing for treatment of nasolacrimal duct obstruction in infants. ( 24568978 )
2014
18
Bilateral canalicular and nasolacrimal duct obstruction in congenital erosive and vesicular dermatosis: a case report and review of the literature. ( 24568995 )
2014
19
Risk factors for developing congenital nasolacrimal duct obstruction. ( 24526860 )
2014
20
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. ( 24962763 )
2014
21
The prevalence of amblyogenic factors in children with persistent congenital nasolacrimal duct obstruction. ( 24777709 )
2014
22
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. ( 24372406 )
2014
23
Dacryolith-induced acute dacryocystitis: a reversible cause of nasolacrimal duct obstruction. ( 24568662 )
2014
24
Endonasal dacryocystorhinostomy for nasolacrimal duct obstruction in patients with sarcoidosis. ( 23662621 )
2013
25
Predisposing factors for primary acquired nasolacrimal duct obstruction. ( 23446557 )
2013
26
Allergic fungal sinusitis causing nasolacrimal duct obstruction. ( 23514026 )
2013
27
Intraoperative prognostic factors for probing outcome in children with congenital nasolacrimal duct obstruction. ( 23225091 )
2013
28
Amblyopia risk factors in infants with congenital nasolacrimal duct obstruction. ( 23851753 )
2013
29
Anisometropia and amblyopia in nasolacrimal duct obstruction. ( 23602456 )
2013
30
Surgical success rate comparison in functional nasolacrimal duct obstruction: simple lacrimal stent versus endoscopic versus external dacryocystorhinostomy. ( 22566177 )
2013
31
Incidence of amblyopia risk factors in children with nasolacrimal duct obstruction. ( 24210346 )
2013
32
Management of congenital nasolacrimal duct obstruction--latin american study. ( 23924988 )
2013
33
Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins. ( 23875786 )
2013
34
Effectiveness of primary monocanalicularnasal intubation with Monoka tubes and nasal endoscopic findings for congenital nasolacrimal duct obstruction with enlarged lacrimal sac and chronic dacryocystitis. ( 23147293 )
2012
35
Refractive state in children with unilateral congenital nasolacrimal duct obstruction. ( 23503710 )
2012
36
High prevalence of amblyopia risk factors in preverbal children with nasolacrimal duct obstruction. ( 22296818 )
2012
37
Nasolacrimal duct obstruction after toxic epidermal necrolysis. ( 22500506 )
2012
38
Nasolacrimal probing and intubation for children with nasolacrimal duct obstruction and history of dacryocystitis. ( 23084394 )
2012
39
High prevalence of amblyopia risk factors in preverbal children with nasolacrimal duct obstruction. ( 21907117 )
2011
40
Cost-effectiveness of 2 approaches to managing nasolacrimal duct obstruction in infants: the importance of the spontaneous resolution rate. ( 21555614 )
2011
41
Facial asymmetry and nasal septal deviation in acquired nasolacrimal duct obstruction. ( 21957951 )
2011
42
Effect of nasolacrimal duct obstruction on nasal mucociliary transport. ( 19874638 )
2010
43
Endocanalicular diode laser dacryocystorhinostomy for nasolacrimal duct obstruction: short-term results of a new minimally invasive surgical technique. ( 21119459 )
2010
44
Nasolacrimal duct obstruction: clinicopathologic analysis of 205 cases. ( 20704489 )
2010
45
Prevalence of amblyopia risk factors in congenital nasolacrimal duct obstruction. ( 21035062 )
2010
46
Anisometropic amblyopia and nasolacrimal duct obstruction. ( 19496504 )
2009
47
Successful treatment of nasolacrimal duct obstruction secondary to fibrous dysplasia by external dacryocystorhinostomy with mitomycin C. ( 19300175 )
2009
48
Silicone intubation with the Ritleng method using intranasal endoscopy to treat congenital nasolacrimal duct obstruction. ( 19699539 )
2009
49
Endoscopic dacryocystorhinostomy for acquired nasolacrimal duct obstruction: creating a window with a drill without use of mucosal flaps. ( 18979270 )
2009
50
Outcomes in children with nasolacrimal duct obstruction: Significance of persistent symptoms while stents are in place. ( 17416328 )
2007

Variations for Lacrimal Duct Defect

ClinVar genetic disease variations for Lacrimal Duct Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IGSF3 NM_001542.3(IGSF3): c.2995delC (p.Arg999Alafs) deletion Pathogenic rs724160030 GRCh37 Chromosome 1, 117122413: 117122413
2 IGSF3 NM_001542.3(IGSF3): c.2995delC (p.Arg999Alafs) deletion Pathogenic rs724160030 GRCh38 Chromosome 1, 116579791: 116579791
3 46;XX;t(2;8)(q33.1;q24.3)dn Translocation Uncertain significance

Expression for Lacrimal Duct Defect

Search GEO for disease gene expression data for Lacrimal Duct Defect.

Pathways for Lacrimal Duct Defect

GO Terms for Lacrimal Duct Defect

Sources for Lacrimal Duct Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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