LCDD
MCID: LCR013
MIFTS: 42

Lacrimal Duct Defect (LCDD)

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

Aliases & Classifications for Lacrimal Duct Defect

MalaCards integrated aliases for Lacrimal Duct Defect:

Name: Lacrimal Duct Defect 58 76 30 6 41
Nasolacrimal Duct Obstruction 58 76 30 6
Lcdd 58 76
Familial Congenital Nasolacrimal Duct Obstruction 60
Lacrimal Puncta, Absence of 58
Lacrimal Duct Obstruction 76

Characteristics:

Orphanet epidemiological data:

60
familial congenital nasolacrimal duct obstruction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33

Classifications:



Summaries for Lacrimal Duct Defect

OMIM : 58 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). The drugs Central Nervous System Depressants and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye and testes, and related phenotypes are sinusitis and conjunctivitis

UniProtKB/Swiss-Prot : 76 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

Diseases related to Lacrimal Duct Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 lacrimal duct obstruction 12.6
2 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction 12.4
3 light chain deposition disease 12.3
4 dacryocystitis 11.8
5 blepharonasofacial malformation syndrome 11.4
6 deafness, epiphyseal dysplasia, short stature 11.4
7 branchiooculofacial syndrome 11.3
8 ramos arroyo clark syndrome 11.3
9 amblyopia 10.5
10 anisometropia 10.3
11 chronic dacryocystitis 10.3
12 gastroesophageal reflux 10.3
13 acute dacryocystitis 10.3
14 thyroid cancer 10.3
15 hemifacial hyperplasia 10.2
16 cataract 10.2
17 crohn's disease 10.2
18 papilloma 10.2
19 type ii mixed cryoglobulinemia 10.2
20 cholestasis 10.1
21 amyloidosis 10.1
22 immunotactoid glomerulopathy 10.1
23 adult syndrome 10.0
24 leukemia, chronic lymphocytic 2 10.0
25 keratitis, hereditary 10.0
26 leukemia, chronic lymphocytic 10.0
27 otitis media 10.0
28 down syndrome 10.0
29 charge syndrome 10.0
30 incontinentia pigmenti 10.0
31 oncocytoma 10.0
32 dermatofibrosarcoma protuberans 10.0
33 severe cutaneous adverse reaction 10.0
34 leukemia 10.0
35 pulmonary emphysema 10.0
36 sinusitis 10.0
37 inflammatory bowel disease 10.0
38 fibroma 10.0
39 crohn's colitis 10.0
40 fibrous dysplasia 10.0
41 blepharophimosis 10.0
42 lymphocytic leukemia 10.0
43 suppression amblyopia 10.0
44 sarcoma 10.0
45 orbital cellulitis 10.0
46 excessive tearing 10.0
47 cutis laxa 10.0
48 rhabdomyosarcoma 10.0
49 cellulitis 10.0
50 conjunctivochalasis 10.0

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



Diseases related to Lacrimal Duct Defect

Symptoms & Phenotypes for Lacrimal Duct Defect

Human phenotypes related to Lacrimal Duct Defect:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sinusitis 33 occasional (7.5%) HP:0000246
2 conjunctivitis 33 occasional (7.5%) HP:0000509
3 periorbital edema 33 occasional (7.5%) HP:0100539
4 dacryocystitis 33 occasional (7.5%) HP:0000620
5 lacrimal duct atresia 33 HP:0000564
6 epiphora 33 HP:0009926
7 dacryocystocele 33 HP:0030752

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
epiphora
imperforate nasolacrimal ducts
absent puncta
absent canaliculi
dacryocystocele
more
Head And Neck Nose:
intranasal cystic mass (in some patients)

Head And Neck Head:
sinusitis (in some patients)

Clinical features from OMIM:

149700

Drugs & Therapeutics for Lacrimal Duct Defect

Drugs for Lacrimal Duct Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Central Nervous System Depressants Phase 3
2 Anesthetics Phase 3,Phase 1,Phase 2,Not Applicable
3
Tetracaine Approved, Vet_approved Phase 1, Phase 2 94-24-6 5411
4
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
5
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
6
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
7
Trimethoprim Approved, Vet_approved Phase 1 738-70-5 5578
8
leucovorin Approved Phase 1 58-05-9 6006 143
9
Besifloxacin Approved Phase 1 141388-76-3
10
Polymyxin B Approved, Vet_approved Phase 1 1404-26-8
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
12 Anti-Infective Agents Phase 1,Not Applicable
13 Antiprotozoal Agents Phase 1
14 Folic Acid Antagonists Phase 1
15 Renal Agents Phase 1
16 Pharmaceutical Solutions Phase 1
17 Antiparasitic Agents Phase 1
18 Fluoroquinolones Phase 1
19 Nucleic Acid Synthesis Inhibitors Phase 1,Not Applicable
20 Polymyxins Phase 1
21 Topoisomerase Inhibitors Phase 1
22 Anti-Infective Agents, Urinary Phase 1
23 Vitamin B9 Phase 1
24 Folate Phase 1
25 Anti-Bacterial Agents Phase 1,Not Applicable
26 Cytochrome P-450 Enzyme Inhibitors Phase 1
27 Vitamin B Complex Phase 1
28 Ophthalmic Solutions Phase 1
29 Antimalarials Phase 1
30
Iodine Approved, Investigational Not Applicable 7553-56-2 807
31 Trace Elements Not Applicable
32 cadexomer iodine Not Applicable
33 Nutrients Not Applicable
34 Anti-Infective Agents, Local Not Applicable
35 Micronutrients Not Applicable
36 Calamus ,Not Applicable
37 Alkylating Agents Not Applicable
38 Antibiotics, Antitubercular Not Applicable
39 Mitomycins Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Comparison of Endonasal Dacryocystorhinostomy With and Without Silicone Tubes Completed NCT00784992 Phase 4
2 Monocanalicular Versus Bicanalicular Intubation in the Treatment of Congenital Nasolacrimal Duct Obstruction Completed NCT01233596 Phase 3
3 Immediate Office Probing vs Deferred Facility Probing for Nasolacrimal Duct Obstruction in Children 6 to <10 Months Old Completed NCT00780741 Phase 3
4 A Comparative Study of Two Endoscopic Operations for Lacrimal Duct Obstruction Completed NCT02636257 Phase 1, Phase 2
5 Safety and Efficacy Study of Besivance™ for Treatment of Congenital Nasolacrimal Duct Obstruction in Children Completed NCT01431170 Phase 1 Besivance Treatment Group;Polytrim Treatment Group
6 Are Corneal Epithelial Defects Related to Changes in Ocular Bacterial Flora in Patients With ANLDO Unknown status NCT02234700
7 Lacrimal Drainage System Obstruction Associated to Radioactive Iodine Therapy for Thyroid Carcinoma Unknown status NCT01579344 Not Applicable Radioiodine therapy
8 The Factors That Affected the Outcome of Treatment of Congenital Nasolacrimal Duct Obstruction Completed NCT02081781
9 Endoscopy Assisted Probing Versus Simple Probing in Primary Congenital Nasolacrimal Duct Obstruction Active, not recruiting NCT03242681 Not Applicable
10 Study of Surgical Procedures for Treatment of Persistent Nasolacrimal Duct Obstruction in Children < 4 Years Old Completed NCT00315315
11 Study of Primary Surgical Treatment of Nasolacrimal Duct Obstruction in Children Less Than Four Years Old Completed NCT00315289
12 SLlt Stent II Lacrimal Stent for the Treatment of Nasolacrimal Duct Obstruction Recruiting NCT03705000 Not Applicable
13 External DCR Versus Canalicular SI With MMC in NLDO Completed NCT03780868 Not Applicable
14 Endo-nasal Endoscopic DCR and External-DCR in Primary Nasolacrimal Duct Obstruction Recruiting NCT02993770 Not Applicable
15 Risk and Importance of Peroperative Nasal Hemorrhage in the Treatment of Lacrimal Duct Obstruction in Young Children Recruiting NCT02851641
16 Lacrimal Drainage Resistance Study Completed NCT01766232

Search 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 30
2 Lacrimal Duct Defect 30 IGSF3

Anatomical Context for Lacrimal Duct Defect

MalaCards organs/tissues related to Lacrimal Duct Defect:

42
Thyroid, Eye, Testes, Bone, Salivary Gland, Myeloid

Publications for Lacrimal Duct Defect

Articles related to Lacrimal Duct Defect:

(show top 50) (show all 470)
# Title Authors Year
1
Occult Nasolacrimal Duct Obstruction Secondary to IgG4-Related Ophthalmic Disease. ( 30882590 )
2019
2
Incidence and clinical characteristics of congenital nasolacrimal duct obstruction. ( 29875230 )
2019
3
Concurrent Microbial Keratitis and Nasolacrimal Duct Obstruction: Concordance, Etiopathogenesis, and Outcome. ( 30325843 )
2019
4
Complex Bony Congenital Nasolacrimal Duct Obstruction Caused by an Adjacent Canine Tooth Bud. ( 30614950 )
2019
5
Measuring nasolacrimal duct volume using computed tomography images in nasolacrimal duct obstruction patients in Korean. ( 30662848 )
2019
6
Etiopathogenesis of Primary Acquired Nasolacrimal Duct Obstruction: What We Know and What We Need to Know. ( 30730434 )
2019
7
Association between congenital nasolacrimal duct obstruction and mode of delivery at birth. ( 30731127 )
2019
8
Tobramycin/dexamethasone eye drops as a better choice for lacrimal duct probing in persistent congenital nasolacrimal duct obstruction: A consort study. ( 30732134 )
2019
9
Oral versus single intravenous bolus dose antibiotic prophylaxis against postoperative surgical site infection in external dacryocystorhinostomy for primary acquired nasolacrimal duct obstruction - A randomized study. ( 30777957 )
2019
10
Transcanalicular endoscopic primary dacryoplasty for congenital nasolacrimal duct obstruction. ( 30783256 )
2019
11
Relationship between lacrimal sac size and duration of tearing in nasolacrimal duct obstruction. ( 30851763 )
2019
12
"Association between congenital nasolacrimal duct obstruction and mode of delivery at birth". ( 30872021 )
2019
13
Altered Surfactant Protein Expression in Primary Acquired Nasolacrimal Duct Obstruction. ( 30882588 )
2019
14
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction. ( 30892112 )
2019
15
Prolactin and Prolactin-inducible protein (PIP) in the pathogenesis of primary acquired nasolacrimal duct obstruction (PANDO). ( 30902142 )
2019
16
Anisometropia and Refractive Status in Children with Bilateral Congenital Nasolacrimal Duct Obstruction. ( 29544578 )
2018
17
The Relationship between Primary Acquired Nasolacrimal Duct Obstruction and Gastroesophageal Reflux. ( 29897254 )
2018
18
Anisometropia and refractive status in children with unilateral congenital nasolacrimal duct obstruction. ( 29675347 )
2018
19
Unilateral congenital nasolacrimal duct obstruction and amblyopia risk factors. ( 30050276 )
2018
20
Is gastroesophageal reflux disease associated with primary acquired nasolacrimal duct obstruction? ( 29040001 )
2018
21
Congenital Nasolacrimal Duct Obstruction and Its Association With the Mode of Birth. ( 29709044 )
2018
22
Balloon Dacryoplasty for Congenital Nasolacrimal Duct Obstruction: A Report by the American Academy of Ophthalmology. ( 29887332 )
2018
23
Congenital nasolacrimal duct obstruction: caesarean section vs. vaginal delivery. ( 30047544 )
2018
24
Biopsy of recurrent nasolacrimal duct obstruction using sheath-guided dacryoendoscopy. ( 30142018 )
2018
25
Estimation of Eyelid Pressure Using a Blepharo-Tensiometer in Patients with Functional Nasolacrimal Duct Obstruction. ( 30159167 )
2018
26
Spontaneous Resolution and Timing of Intervention in Congenital Nasolacrimal Duct Obstruction. ( 30178001 )
2018
27
Timing of Simple Probing for Congenital Nasolacrimal Duct Obstruction: Not So Simple. ( 30178002 )
2018
28
The Role of Inferior Turbinate Fracture in the Management of Congenital Nasolacrimal Duct Obstruction. ( 30234839 )
2018
29
Association between congenital nasolacrimal duct obstruction and mode of delivery at birth. ( 30243932 )
2018
30
Perioperative use of intravenous dexamethasone in the management of congenital nasolacrimal duct obstruction with balloon dacryoplasty. ( 30342184 )
2018
31
Congenital Nasolacrimal Duct Obstruction (CNLDO): A Review. ( 30360371 )
2018
32
Laser-assisted dacryocystorhinostomy in nasolacrimal duct obstruction: 5-year follow-up. ( 30364228 )
2018
33
Nasolacrimal Duct Obstruction Following Hyaluronic Acid Rejuvenation of the Tear Trough. ( 30407998 )
2018
34
Transcanalicular laser dacryocystorhinostomy for acquired nasolacrimal duct obstruction: an audit of 104 patients. ( 30446006 )
2018
35
Lacrimal gland choristoma in lacrimal sac as a probable cause of nasolacrimal duct obstruction. ( 30467937 )
2018
36
Novel taste test for nasolacrimal duct obstruction using denatonium benzoate: a randomized controlled pilot study. ( 30502985 )
2018
37
Evaluation of Tear Film Lipid Layer Thickness Measurements Obtained Using an Ocular Surface Interferometer in Nasolacrimal Duct Obstruction Patients. ( 30549467 )
2018
38
Unilateral Congenital Nasolacrimal Duct Obstruction, Is It An Amblyogenic Factor? ( 30765954 )
2018
39
Outcomes of Endoscopic Dacryocystorhinostomy in Secondary Acquired Nasolacrimal Duct Obstruction: A Case-Control Study. ( 27997463 )
2018
40
Conjunctival cytologic features in patients with unilateral primary acquired nasolacrimal duct obstruction. ( 28224303 )
2018
41
The Treatment of Congenital Nasolacrimal Duct Obstruction in Children: A Retrospective Review. ( 28991351 )
2018
42
A comparison of the success rates of endoscopic-assisted probing in the treatment of membranous congenital nasolacrimal duct obstruction between younger and older children and its correlation with the thickness of the membrane at the Valve of Hasner. ( 29040026 )
2018
43
Prevalence of buried probe in complex congenital nasolacrimal duct obstruction and evaluation of its success rate post 'probing and irrigation': a single-centre retrospective study. ( 29400586 )
2018
44
Actinomycetes canaliculitis complicating congenital nasolacrimal duct obstruction in an infant. ( 29582826 )
2018
45
Comparison of endoscopic and external dacryocystorhinostomy for treatment of primary acquired nasolacrimal duct obstruction. ( 29675345 )
2018
46
Endoscopic intranasal findings in unilateral primary acquired nasolacrimal duct obstruction. ( 28860907 )
2017
47
Modeling Chronic Dacryocystitis in Rabbits by Nasolacrimal Duct Obstruction with Self-Curing Resin. ( 28717520 )
2017
48
Primary endoscopic endonasal dacryocystorhinostomy for pediatric nasolacrimal duct obstruction: A systematic review. ( 28859711 )
2017
49
Primary nonendoscopic endonasal versus external dacryocystorhinostomy in nasolacrimal duct obstruction in children. ( 29044069 )
2017
50
Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction. ( 28847443 )
2017

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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