ACSF3 gene related symptoms and diseases
All the information presented here about the ACSF3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACSF3 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Dilated cardiomyopathy | Uncommon - Between 30% and 50% cases |
Wide mouth | Uncommon - Between 30% and 50% cases |
Autistic behavior | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACSF3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Protruding ear
- Intellectual disability, moderate
- High forehead
- Upslanted palpebral fissure
- Autism
- Thrombocytopenia
- Long philtrum
- Kyphosis
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACSF3 gene
Here you will find a list of rare diseases related to the ACSF3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED MALONIC AND METHYLMALONIC ACIDEMIA
Alternate names
COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria, cmamma
Description
Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Most common symptoms of COMBINED MALONIC AND METHYLMALONIC ACIDEMIA
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA
16Q24.3 MICRODELETION SYNDROME
Alternate names
16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3, del(16)(q24.3)
Description
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Most common symptoms of 16Q24.3 MICRODELETION SYNDROME
- Seizures
- Global developmental delay
- Hearing impairment
- Scoliosis
- Nystagmus
More info about 16Q24.3 MICRODELETION SYNDROME
SOURCES: ORPHANET
Search interest in ACSF3
Potential gene panels for ACSF3 gene
MitoMet®Plus aCGH Analysis Panel

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
ACSF3 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel
ACSF3 Familial Mutation/Variant Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel
ACSF3 Prenatal Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel
ACSF3 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel
ACSF3 Sequence and Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel
Methylmalonic Acidemia Sequencing NextGen Panel Panel

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: SUCLA2 TCN1 TCN2 CBS CD320 MCEE MMAA MMAB ACSF3 CBLIF
More info about this panel
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel

By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel
ACSF3 Gene Sequencing Panel

By GeneDx
This panel specifically test the ACSF3 gene.
More info about this panel
Combined malonic and methylmalonic aciduria (sequence analysis of ACSF3 gene) Panel

By CGC Genetics
This panel specifically test the ACSF3 gene.
More info about this panel
Methylmalonic aciduria (NGS panel for 15 genes) Panel

By CGC Genetics Methylmalonic aciduria (NGS panel for 15 genes) that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel
Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Methylmalonic Acidemia Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB MMADHC ACSF3 MLYCD ALDH6A1
More info about this panel
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the ACSF3 gene.
More info about this panel
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panel
Organic Aciduria Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3
More info about this panel
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel
Mental retardation - different panels Panel

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel
Acyl-CoA synthetase family, member 3 deficiency (ACSF3) Panel

By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ACSF3 gene.
More info about this panel
AllNeuro panel Panel

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
CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
New Born testing (CentoICU) Panel

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
Combined malonic and methylmalonic aciduria Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the ACSF3 gene.
More info about this panel
Methylmalonic Aciduria and Homocystinuria Panel

By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel
qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel
Invitae Organic Acidemias Panel Panel

By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panel
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel
Inherited Metabolic Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel
Methylmalonic Acid Metabolism NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
More info about this panel
Nuclear-Mito NGS Panel Panel

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
ACSF3 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACSF3 gene.
More info about this panel
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel
Comprehensive Metabolism Panel Panel

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel
METHYLMALONIC ACIDEMIA: NGS PANEL Panel

By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA: NGS PANEL that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel
Methylmalonic acidemia: gene sequencing panel (RAPID testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics Methylmalonic acidemia: gene sequencing panel (RAPID testing) that also includes the following genes: TCN2 CD320 MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3 HCFC1 ABCD4
More info about this panel
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel
Combined malonic and methylmalonic aciduria: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ACSF3 gene.
More info about this panel
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