ACER3 gene related symptoms and diseases

All the information presented here about the ACER3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACER3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Muscular hypotonia of the trunk Very Common - Between 80% and 100% cases
Developmental stagnation Very Common - Between 80% and 100% cases
Relative macrocephaly Very Common - Between 80% and 100% cases
Leukodystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACER3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thick lower lip vermilion
  • Optic disc pallor
  • Sloping forehead
  • Prominent nose
  • Thick eyebrow
  • Smooth philtrum
  • Developmental regression
  • Coarse facial features

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACER3 gene

Here you will find a list of rare diseases related to the ACER3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALKALINE CERAMIDASE 3 DEFICIENCY


Alternate names

ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency, acer3-related early childhood-onset progressive leukodystrophy

Most common symptoms of ALKALINE CERAMIDASE 3 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


More info about ALKALINE CERAMIDASE 3 DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for ACER3 gene

ACER3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACER3 gene.

More info about this panel


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