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

SOURCES: MESH OMIM


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

ACACA Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACACA gene.

More info about this panel

ACACA Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACACA gene.

More info about this panel

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

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

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

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

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

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

ACACA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACACA gene.

More info about this panel


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