SEC23A gene related symptoms and diseases

All the information presented here about the SEC23A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SEC23A gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Hemangioma Very Common - Between 80% and 100% cases
Abnormality of skin pigmentation Very Common - Between 80% and 100% cases
Thin vermilion border Very Common - Between 80% and 100% cases
Wide nose Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SEC23A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Delayed eruption of teeth
  • Hypoplasia of the maxilla
  • Bifid uvula
  • Prominent nose
  • Esotropia
  • Microdontia
  • Large fontanelles
  • Hyperpigmentation of the skin

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to SEC23A gene

Here you will find a list of rare diseases related to the SEC23A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CRANIOLENTICULOSUTURAL DYSPLASIA


Alternate names

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Description

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

Most common symptoms of CRANIOLENTICULOSUTURAL DYSPLASIA

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


More info about CRANIOLENTICULOSUTURAL DYSPLASIA

SOURCES: OMIM ORPHANET MESH


Potential gene panels for SEC23A gene

Craniolenticulosutural dysplasia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the SEC23A gene.

More info about this panel

SEC23A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SEC23A gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBO1 COL18A1 MYLK DHTKD1 AUTS2 CACNA1D

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more