GPAA1 gene related symptoms and diseases

All the information presented here about the GPAA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GPAA1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Inability to walk Very Common - Between 80% and 100% cases
Osteoporosis Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases
Osteopenia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GPAA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • EEG abnormality
  • Poor speech
  • Dysmetria
  • Unsteady gait
  • Abnormal cerebellum morphology
  • Cerebellar hypoplasia
  • Hip dysplasia
  • Generalized-onset seizure

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GPAA1 gene

Here you will find a list of rare diseases related to the GPAA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


Alternate names

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Description

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Most common symptoms of GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

SOURCES: OMIM


Potential gene panels for GPAA1 gene

GPAA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPAA1 gene.

More info about this panel


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