Acetyl-coa Carboxylase Deficiency; Acacad

Clinical Features

Phenotypes and symptoms related to Acetyl-coa Carboxylase Deficiency; Acacad

  • Generalized hypotonia
  • Growth delay
  • Myopathy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Acetyl-coa Carboxylase Deficiency; Acacad Is also known as acc1 deficiency, acaca deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Acetyl-coa Carboxylase Deficiency; Acacad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACACA Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACACA
Specificity
100 %
Genes
100 %
ACACA Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACACA
Specificity
100 %
Genes
100 %
ACACA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACACA
Specificity
100 %
Genes
100 %
ACACA Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ACACA
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Acetyl-CoA carboxylase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

ACACA
Specificity
100 %
Genes
100 %

You can get up to 2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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