SLC9A3-AS1 gene related symptoms and diseases

All the information presented here about the SLC9A3-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends

Top 5 symptoms and clinical features associated to SLC9A3-AS1 gene

Symptoms // Phenotype	% Cases
Short stature	Very Common - Between 80% and 100% cases
Mild short stature	Very Common - Between 80% and 100% cases
Choanal atresia	Very Common - Between 80% and 100% cases
Abnormal intestine morphology	Very Common - Between 80% and 100% cases
Cutis laxa	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC9A3-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Hyponatremia
Keratitis
Preauricular pit
Abnormality of digit
Intestinal malrotation
Corneal erosion
Optic nerve coloboma
Rectovaginal fistula

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC9A3-AS1 gene

Here you will find a list of rare diseases related to the SLC9A3-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Alternate names

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic, csd, sodium diarrhea, congenital

Most common symptoms of DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Short stature
Hypertelorism
Micrognathia
Cleft palate
Low-set ears

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

SOURCES: OMIM

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