1. Mendelian
  2. Rare Disease Genes
  3. ACAT2

ACAT2 gene related symptoms and diseases

All the information presented here about the ACAT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ACAT2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Chorea Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACAT2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Poor head control
  • Colitis
  • Ketosis
  • Increased serum pyruvate

Rare diseases associated to ACAT2 gene

Here you will find a list of rare diseases related to the ACAT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

Alternate names

ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D Is also known as acat2 deficiency

Most common symptoms of ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

  • Global developmental delay
  • Generalized hypotonia
  • Fever
  • Chorea
  • Increased serum lactate


More info about ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

SOURCES: OMIM


Potential gene panels for ACAT2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

ACAT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACAT2 gene.

More info about this panel
United States.

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