LCDD
MCID: LCR013
MIFTS: 43

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 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, testes and thyroid, 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

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

(show top 50) (show all 59)
# 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 12.2
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 10.2
13 acute dacryocystitis 10.2
14 hemifacial hyperplasia 10.2
15 cataract 10.2
16 crohn's disease 10.2
17 thyroid cancer 10.2
18 papilloma 10.2
19 dacryoadenitis 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 crohn's colitis 10.0
39 fibrous dysplasia 10.0
40 blepharophimosis 10.0
41 lymphocytic leukemia 10.0
42 suppression amblyopia 10.0
43 sarcoma 10.0
44 orbital cellulitis 10.0
45 excessive tearing 10.0
46 cutis laxa 10.0
47 rhabdomyosarcoma 10.0
48 cellulitis 10.0
49 conjunctivochalasis 10.0
50 conjunctivitis 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

Symptoms via clinical synopsis from OMIM:

57
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

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 periorbital edema 32 occasional (7.5%) HP:0100539
4 dacryocystitis 32 occasional (7.5%) HP:0000620
5 lacrimal duct atresia 32 HP:0000564
6 epiphora 32 HP:0009926
7 dacryocystocele 32 HP:0030752

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, Testes, Thyroid, Bone, Salivary Gland, Myeloid, B Cells

Publications for Lacrimal Duct Defect

Articles related to Lacrimal Duct Defect:

(show top 50) (show all 455)
# Title Authors Year
1
Concurrent Microbial Keratitis and Nasolacrimal Duct Obstruction: Concordance, Etiopathogenesis, and Outcome. ( 30325843 )
2019
2
Anisometropia and Refractive Status in Children with Bilateral Congenital Nasolacrimal Duct Obstruction. ( 29544578 )
2018
3
The Relationship between Primary Acquired Nasolacrimal Duct Obstruction and Gastroesophageal Reflux. ( 29897254 )
2018
4
Anisometropia and refractive status in children with unilateral congenital nasolacrimal duct obstruction. ( 29675347 )
2018
5
Unilateral congenital nasolacrimal duct obstruction and amblyopia risk factors. ( 30050276 )
2018
6
Is gastroesophageal reflux disease associated with primary acquired nasolacrimal duct obstruction? ( 29040001 )
2018
7
Estimation of Eyelid Pressure Using a Blepharo-Tensiometer in Patients with Functional Nasolacrimal Duct Obstruction. ( 30159167 )
2018
8
Spontaneous Resolution and Timing of Intervention in Congenital Nasolacrimal Duct Obstruction. ( 30178001 )
2018
9
Timing of Simple Probing for Congenital Nasolacrimal Duct Obstruction: Not So Simple. ( 30178002 )
2018
10
The Role of Inferior Turbinate Fracture in the Management of Congenital Nasolacrimal Duct Obstruction. ( 30234839 )
2018
11
Association between congenital nasolacrimal duct obstruction and mode of delivery at birth. ( 30243932 )
2018
12
Perioperative use of intravenous dexamethasone in the management of congenital nasolacrimal duct obstruction with balloon dacryoplasty. ( 30342184 )
2018
13
Congenital Nasolacrimal Duct Obstruction (CNLDO): A Review. ( 30360371 )
2018
14
Laser-assisted dacryocystorhinostomy in nasolacrimal duct obstruction: 5-year follow-up. ( 30364228 )
2018
15
Nasolacrimal Duct Obstruction Following Hyaluronic Acid Rejuvenation of the Tear Trough. ( 30407998 )
2018
16
Transcanalicular laser dacryocystorhinostomy for acquired nasolacrimal duct obstruction: an audit of 104 patients. ( 30446006 )
2018
17
Lacrimal gland choristoma in lacrimal sac as a probable cause of nasolacrimal duct obstruction. ( 30467937 )
2018
18
Novel taste test for nasolacrimal duct obstruction using denatonium benzoate: a randomized controlled pilot study. ( 30502985 )
2018
19
Evaluation of Tear Film Lipid Layer Thickness Measurements Obtained Using an Ocular Surface Interferometer in Nasolacrimal Duct Obstruction Patients. ( 30549467 )
2018
20
Outcomes of Endoscopic Dacryocystorhinostomy in Secondary Acquired Nasolacrimal Duct Obstruction: A Case-Control Study. ( 27997463 )
2018
21
Conjunctival cytologic features in patients with unilateral primary acquired nasolacrimal duct obstruction. ( 28224303 )
2018
22
The Treatment of Congenital Nasolacrimal Duct Obstruction in Children: A Retrospective Review. ( 28991351 )
2018
23
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
24
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
25
Actinomycetes canaliculitis complicating congenital nasolacrimal duct obstruction in an infant. ( 29582826 )
2018
26
Comparison of endoscopic and external dacryocystorhinostomy for treatment of primary acquired nasolacrimal duct obstruction. ( 29675345 )
2018
27
Congenital Nasolacrimal Duct Obstruction and Its Association With the Mode of Birth. ( 29709044 )
2018
28
Incidence and clinical characteristics of congenital nasolacrimal duct obstruction. ( 29875230 )
2018
29
Balloon Dacryoplasty for Congenital Nasolacrimal Duct Obstruction: A Report by the American Academy of Ophthalmology. ( 29887332 )
2018
30
Congenital nasolacrimal duct obstruction: caesarean section vs. vaginal delivery. ( 30047544 )
2018
31
Biopsy of recurrent nasolacrimal duct obstruction using sheath-guided dacryoendoscopy. ( 30142018 )
2018
32
Endoscopic intranasal findings in unilateral primary acquired nasolacrimal duct obstruction. ( 28860907 )
2017
33
Modeling Chronic Dacryocystitis in Rabbits by Nasolacrimal Duct Obstruction with Self-Curing Resin. ( 28717520 )
2017
34
Primary endoscopic endonasal dacryocystorhinostomy for pediatric nasolacrimal duct obstruction: A systematic review. ( 28859711 )
2017
35
Primary nonendoscopic endonasal versus external dacryocystorhinostomy in nasolacrimal duct obstruction in children. ( 29044069 )
2017
36
Indian survey on practice patterns of lacrimal & eyelid disorders (iSUPPLE): Report 3 - Cataract and nasolacrimal duct obstruction. ( 28860911 )
2017
37
Tear-Film Osmolarity Changes Following Dacryocystorhinostomy in Primary Acquired Nasolacrimal Duct Obstruction. ( 27419611 )
2017
38
Evaluation and Management of Chemotherapy-Induced Epiphora, Punctal and Canalicular Stenosis, and Nasolacrimal Duct Obstruction. ( 27429222 )
2017
39
Aquaporin expression in the lacrimal sac of patients with primary and functional nasolacrimal duct obstruction. ( 27439740 )
2017
40
A Novel One-Stage Obstruction-Based Endoscopic Approach to Congenital Nasolacrimal Duct Obstruction. ( 27636242 )
2017
41
Transcanalicular Laser-Assisted Dacryocystorhinostomy With Endonasal Augmentation in Primary Nasolacrimal Duct Obstruction: Our Experience. ( 27768643 )
2017
42
Factors Predictive of Success in Probing for Congenital Nasolacrimal Duct Obstruction. ( 27977034 )
2017
43
A survey of management of congenital nasolacrimal duct obstruction by pediatric primary health care providers in Spain. ( 28009409 )
2017
44
Management of Congenital Nasolacrimal Duct Obstruction With Anatomic Anomalies. ( 28128841 )
2017
45
Endonasal versus external dacryocystorhinostomy for nasolacrimal duct obstruction. ( 28231605 )
2017
46
A Case Series of Dacryoendoscopy in Childhood: A Diagnostic and Therapeutic Alternative for Complex Congenital Nasolacrimal Duct Obstruction Even in the First Year of Life. ( 28341931 )
2017
47
Congenital nasolacrimal duct obstruction: Should we continue lacrimal massage till 1 year or perform an office probing at 6 months? A clinical decision analysis approach. ( 28345576 )
2017
48
Conjunctival bacterial flora in fellow eyes of patients with unilateral nasolacrimal duct obstruction and its changes after successful dacryocystorhinostomy surgery. ( 28367529 )
2017
49
Frequency of Bacterial Samples from Patients with Chronic Acquired Nasolacrimal Duct Obstruction. ( 28428681 )
2017
50
Rare Pleurostomophora richardsiae Mass Causing Transient Nasolacrimal Duct Obstruction. ( 28430706 )
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

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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