ANKS3 gene related symptoms and diseases

All the information presented here about the ANKS3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANKS3 gene

Symptoms // Phenotype % Cases
Intrauterine growth retardation Very Common - Between 80% and 100% cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Atrial septal defect Very Common - Between 80% and 100% cases
Abnormal heart morphology Very Common - Between 80% and 100% cases
Dyskinesia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANKS3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Situs inversus totalis
  • Dextrocardia
  • Ciliary dyskinesia
  • Transposition of the great arteries
  • Abnormality of the respiratory system
  • Abdominal situs inversus
  • Heterotaxy

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Rare diseases associated to ANKS3 gene

Here you will find a list of rare diseases related to the ANKS3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

SITUS INVERSUS TOTALIS Is also known as complete situs inversus, complete situs inversus viscerum, situs inversus viscerum, siv, situs inversus


Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of SITUS INVERSUS TOTALIS

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia



Potential gene panels for ANKS3 gene

ANKS3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANKS3 gene.

More info about this panel

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