IGSF3 gene related symptoms and diseases

All the information presented here about the IGSF3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGSF3 gene

Symptoms // Phenotype % Cases
Hypertelorism Very Common - Between 80% and 100% cases
Cellulitis Very Common - Between 80% and 100% cases
Dacryocystitis Very Common - Between 80% and 100% cases
Lacrimal duct atresia Very Common - Between 80% and 100% cases
Rhinorrhea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGSF3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nasolacrimal duct obstruction
  • Periorbital edema
  • Nasal obstruction
  • Chronic sinusitis
  • Epiphora
  • Abnormal facial shape
  • Conjunctivitis
  • Sinusitis

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IGSF3 gene

Here you will find a list of rare diseases related to the IGSF3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


Alternate names

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction, lacrimal puncta, absence of

Description

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).

Most common symptoms of FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

SOURCES: OMIM MESH ORPHANET


Potential gene panels for IGSF3 gene

IGSF3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGSF3 gene.

More info about this panel


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