MCCC1 gene related symptoms and diseases
All the information presented here about the MCCC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCCC1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hyperammonemia | Very Common - Between 80% and 100% cases |
Tetraplegia | Very Common - Between 80% and 100% cases |
Gliosis | Very Common - Between 80% and 100% cases |
Brain atrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCCC1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aciduria
- Focal-onset seizure
- Intellectual disability, profound
- Hemiparesis
- Involuntary movements
- Leukodystrophy
- Cerebral palsy
- Failure to thrive in infancy
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCCC1 gene
Here you will find a list of rare diseases related to the MCCC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Alternate names
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency, 3-methylcrotonylglycinuria i, mccd, 3-methylcrotonylglycinuria, methylcrotonylglycinuria type i, mccd type 1, mcc deficiency
Description
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
Most common symptoms of 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Search interest in MCCC1
Potential gene panels for MCCC1 gene
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel Panel
By Baylor Miraca Genetics Laboratories 3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel that also includes the following genes: MCCC1 MCCC2
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Panel
By Baylor Miraca Genetics Laboratories 3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) that also includes the following genes: MCCC1 MCCC2
More info about this panelMitoMet®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 panelMCCC1 & MCCC2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories MCCC1 & MCCC2 Sequence Analysis that also includes the following genes: MCCC1 MCCC2
More info about this panelMCCC1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MCCC1 gene.
More info about this panelMCCC1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MCCC1 gene.
More info about this panelMCCC1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MCCC1 gene.
More info about this panelMCCC1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MCCC1 gene.
More info about this panel3-Methylcrotonylglycinuria Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center 3-Methylcrotonylglycinuria that also includes the following genes: MCCC1 MCCC2
More info about this panel3-Methylcrotonyl-CoA Carboxylase 1 Deficiency Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the MCCC1 gene.
More info about this panel3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency that also includes the following genes: MCCC1 MCCC2
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
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 panel3-Methylcrotonyl-CoA carboxylase deficiency (sequence analysis of MCCC1 gene) Panel
By CGC Genetics
This panel specifically test the MCCC1 gene.
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics 3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection that also includes the following genes: MCCC1 MCCC2
More info about this panelHyperammonemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2
More info about this panelOrganic 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 panel3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MCCC1 gene.
More info about this panelMental 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 panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelCentoICU 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 panelNew 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 panelCoA-3-methylcrontonyl carboxylase 1 deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCCC1 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelEpilepsy Panel
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panelMCCC1 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the MCCC1 gene.
More info about this panelqCarrier 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 panelInvitae 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 panelInvitae 3-Methylcrotonyl-CoA Carboxylase Panel Panel
By Invitae Invitae 3-Methylcrotonyl-CoA Carboxylase Panel that also includes the following genes: MCCC1 MCCC2
More info about this panelInvitae Elevated C5-OH Panel Panel
By Invitae Invitae Elevated C5-OH Panel that also includes the following genes: BTD TAZ SERAC1 DNAJC19 HSD17B10 HLCS HMGCL MCCC1 MCCC2 OPA3
More info about this panelInvitae 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 panelInvitae Treatable Neurometabolic Disorders Panel Panel
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel3-methylcrotonyl-coA carboxylase deficiency: MCCC1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MCCC1 gene.
More info about this panel3-methylcrotonyl-coA carboxylase deficiency: MCCC1 and MCCC2 genes sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases 3-methylcrotonyl-coA carboxylase deficiency: MCCC1 and MCCC2 genes sequence analysis that also includes the following genes: MCCC1 MCCC2
More info about this panelORGANIC ACIDEMIAS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ORGANIC ACIDEMIAS that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Full Gene Sequencing that also includes the following genes: MCCC1 MCCC2
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Gene Deletion/Duplication that also includes the following genes: MCCC1 MCCC2
More info about this panelInherited 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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelNuclear-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 panel3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel Panel
By Fulgent Genetics Fulgent Genetics 3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel that also includes the following genes: MCCC1 MCCC2
More info about this panelMCCC1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCCC1 gene.
More info about this panelHyperammonemia and Urea Cycle Disorder Panel Panel
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panelOrganic 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 panelComprehensive 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 panelBaby Genes Targeted Panel Panel
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children 3-Methylcrotonyl-CoA Carboxylase Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: MCCC1 MCCC2
More info about this panelMCCC1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the MCCC1 gene.
More info about this panelMETHYLCROTONYLGLYCINURIA (3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY) Panel
By Laboratorio de Genetica Clinica SL METHYLCROTONYLGLYCINURIA (3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY) that also includes the following genes: MCCC1 MCCC2
More info about this panel3-Methylcrotonyl-CoA Carboxylase Deficiency, Sequencing MCCC1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MCCC1 gene.
More info about this panelOrganic Acidemias , Panel Massive Sequencing (NGS) 15 Genes Panel
By Reference Laboratory Genetics Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT
More info about this panelCEN4GEN 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 panel3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MCCC1 gene.
More info about this panelCEN4GEN 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 panel3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (Rapid testing) that also includes the following genes: MCCC1 MCCC2
More info about this panel3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (RAPID testing) that also includes the following genes: MCCC1 MCCC2
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