ACACA gene related symptoms and diseases
All the information presented here about the ACACA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACACA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Myopathy | Very Common - Between 80% and 100% cases |
Rare diseases associated to ACACA gene
Here you will find a list of rare diseases related to the ACACA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD
Alternate names
ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency, acaca deficiency
Most common symptoms of ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD
- Generalized hypotonia
- Growth delay
- Myopathy
More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD
Search interest in ACACA
Potential gene panels for ACACA gene
ACACA Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACACA gene.
More info about this panel United States.
ACACA Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACACA gene.
More info about this panel United States.
ACACA Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACACA gene.
More info about this panel United States.
ACACA Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACACA gene.
More info about this panel United States.
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.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Acetyl-CoA carboxylase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACACA gene.
More info about this panel Germany.
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.
ACACA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACACA gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RGR JAK2