1. Mendelian
  2. Genes
  3. ATP1B1

ATP1B1 gene related symptoms and diseases

All the information presented here about the ATP1B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ATP1B1 gene

Symptoms // Phenotype % Cases
Hypertension Very Common - Between 80% and 100% cases
Hypertonia Very Common - Between 80% and 100% cases
Small for gestational age Very Common - Between 80% and 100% cases
Hypotension Very Common - Between 80% and 100% cases
Malnutrition Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP1B1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hyperaldosteronism
  • Pseudohypoaldosteronism
  • Large placenta
  • Elevated systolic blood pressure
  • Elevated diastolic blood pressure
  • Elevated mean arterial pressure

Rare diseases associated to ATP1B1 gene

Here you will find a list of rare diseases related to the ATP1B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERTENSION, ESSENTIAL

Alternate names

HYPERTENSION, ESSENTIAL Is also known as eht

Description

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

Most common symptoms of HYPERTENSION, ESSENTIAL

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


More info about HYPERTENSION, ESSENTIAL

SOURCES: OMIM


Potential gene panels for ATP1B1 gene

Familial Arrhythmia Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Arrhythmia Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2 CAV3

More info about this panel
United States.

ATP1B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP1B1 gene.

More info about this panel
United States.

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