Familial congenital nasolacrimal duct obstruction
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial congenital nasolacrimal duct obstruction | |
| fr | Obstruction congénitale familiale du canal nasolacrymal | Obstruction congénitale familiale du canal lacrymonasal · Obstruction congénitale familiale du conduit lacrymonasal · Obstruction congénitale familiale du conduit nasolacrymal |
| de | Tränenwegsverschluss, familiärer kongenitaler | |
| es | Obstrucción congénita familiar del conducto nasolagrimal | |
| it | Ostruzione congenita familiare del dotto naso lacrimale | |
| nl | Familiale congenitale obstructie van ductus nasolacrimalis | |
| pt | Obstrução congénita do ducto nasolacrimal | |
| pl | Rodzinna wrodzona niedrożność przewodu nosowo-łzowego | |
| cs | Familiární vrozená obstrukce ductus nasolacrimalis | |
| uk | Сімейна вроджена непрохідність носослізної протоки | |
| zh | 家族性先天性鼻泪管阻塞 | |
| tr | ailesel Doğumsal nazolakrimal kanal tıkanıklığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 149700 | E | validated | |
| ICD-10 | Q10.5 | NTBT | attributed | validated |
| ICD-11 | LA14.14 | NTBT | attributed | validated |
| MONDO | 0007871 | E | validated | |
| UMLS | C5681101 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:98605Lacrimal drainage system anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522534Lacrimal drainage system anomaly of genetic origin
rare genetic diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGSF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:5950 | ENSG00000143061 | 603491 | 1p13.1 | immunoglobulin superfamily member 3 | 24372406[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24372406[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24372406[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/451612
- This record as JSON: /data/d/451612.json