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  3. POTEI

POTEI gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to POTEI gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Double outlet right ventricle Very Common - Between 80% and 100% cases
Left atrial isomerism Very Common - Between 80% and 100% cases
Hypoplastic aortic arch Very Common - Between 80% and 100% cases
Heterotaxy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POTEI gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abdominal situs inversus
  • Asplenia
  • Polysplenia
  • Transposition of the great arteries
  • Ventricular septal defect
  • Atrioventricular canal defect
  • Dextrocardia
  • Pyloric stenosis

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POTEI gene

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


HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2

Alternate names

HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2 Is also known as htx

Description

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 the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2

  • Microcephaly
  • Ventricular septal defect
  • Abnormal heart morphology
  • Agenesis of corpus callosum
  • Intestinal malrotation


More info about HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2

SOURCES: OMIM



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