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 |
| Failure to thrive | Uncommon - Between 30% and 50% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
| Generalized hypotonia | 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
- Periventricular gray matter heterotopia
- Single median maxillary incisor
- Colpocephaly
- Abnormal hair pattern
- Increased mean corpuscular volume
- Biparietal narrowing
- Proximal placement of thumb
- Chronic otitis media
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.
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
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
Search interest in ACSF3
Potential gene panels for ACSF3 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.
ACSF3 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel United States.
ACSF3 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel United States.
ACSF3 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel United States.
ACSF3 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel United States.
ACSF3 Sequence and Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACSF3 gene.
More info about this panel United States.
Methylmalonic Acidemia Sequencing NextGen Panel Panel
United States.
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 United States.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
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 United States.
ACSF3 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ACSF3 gene.
More info about this panel United States.
Combined malonic and methylmalonic aciduria (sequence analysis of ACSF3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACSF3 gene.
More info about this panel Portugal.
Methylmalonic aciduria (NGS panel for 15 genes) Panel
Portugal.
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 Portugal.
Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACSF3 gene.
More info about this panel United States.
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Organic Aciduria Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Mental retardation - different panels Panel
Germany.
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 Germany.
Acyl-CoA synthetase family, member 3 deficiency (ACSF3) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ACSF3 gene.
More info about this panel Netherlands.
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.
CentoICU platinum plus Panel
Germany.
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 Germany.
New Born testing (CentoICU) Panel
Germany.
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 Germany.
Combined malonic and methylmalonic aciduria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACSF3 gene.
More info about this panel Germany.
Methylmalonic Aciduria and Homocystinuria Panel
Estonia.
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 Estonia.
qCarrier Plus Panel
Spain.
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 Spain.
Invitae Organic Acidemias Panel Panel
United States.
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 United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
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 United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
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 United States.
Methylmalonic Acid Metabolism NGS Panel Panel
United States.
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 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.
ACSF3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACSF3 gene.
More info about this panel United States.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
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 Finland.
Comprehensive Metabolism Panel Panel
Finland.
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 Finland.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
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 Finland.
METHYLMALONIC ACIDEMIA: NGS PANEL Panel
Spain.
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 Spain.
Methylmalonic acidemia: gene sequencing panel (RAPID testing) Panel
Canada.
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 Canada.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
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 Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
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 Canada.
Combined malonic and methylmalonic aciduria: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ACSF3 gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NR2F1 MROH9 TBX15 WDR73 POLR3A GATA1