Lacrimal duct defect

Preferred Label : Lacrimal duct defect;

Symbol : LCDD;

CISMeF acronym : LCDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lacrimal puncta, absence of; Nasolacrimal duct obstruction;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin superfamily member-3 gene (IGSF3, 603491.0001);

Prefixed ID : #149700;

Details

Origin ID

149700;

UMLS CUI

C1835612;

Automatic exact mappings (from CISMeF team)
- Light chain deposition disease [ORDO Disease]
- Nasolacrimal duct obstruction [ICD-11 Subcategory]
- Nasolacrimal duct obstruction [HPO term]
- Nasolacrimal duct obstruction [PASCAL descriptor]
- Obstruction of nasolacrimal duct (disorder) [SNOMED CT concept]
- Stenosis of nasolacrimal duct (disorder) [SNOMED CT concept]
- lacrimal duct obstruction [MeSH Descriptor]
- lacrimal puncta, absence of [MeSH Supplementary Concept]
- lacrimal puncta, absence of [MeSH concept]
Genes related to phenotype
- Immunoglobulin superfamily, member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Conjunctivitis [HPO term]
- Dacryocystitis [HPO term]
- Dacryocystocele [HPO term]
- Epiphora [HPO term]
- Imperforate nasolacrimal ducts [HPO term]
- Lacrimal duct atresia [HPO term]
- Periorbital edema [HPO term]
- Sinusitis [HPO term]
ORDO concept(s)
- Familial congenital nasolacrimal duct obstruction [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to BTNT
- Familial congenital nasolacrimal duct obstruction [ORDO Disease]

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