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.

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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

SOURCES: ORPHANET OMIM MESH


Potential gene panels for MCCC1 gene

3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel Panel

United States.

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 panel

3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Panel

United States.

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 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

MCCC1 & MCCC2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MCCC1 & MCCC2 Sequence Analysis that also includes the following genes: MCCC1 MCCC2

More info about this panel

MCCC1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MCCC1 gene.

More info about this panel

MCCC1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MCCC1 gene.

More info about this panel

MCCC1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MCCC1 gene.

More info about this panel

MCCC1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MCCC1 gene.

More info about this panel

3-Methylcrotonylglycinuria Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center 3-Methylcrotonylglycinuria that also includes the following genes: MCCC1 MCCC2

More info about this panel

3-Methylcrotonyl-CoA Carboxylase 1 Deficiency Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the MCCC1 gene.

More info about this panel

3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency Panel

United States.

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 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

3-Methylcrotonyl-CoA carboxylase deficiency (sequence analysis of MCCC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MCCC1 gene.

More info about this panel

3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

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 panel

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

3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MCCC1 gene.

More info about this panel

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

Comprehensive mitochondrial disorders panel Panel

Germany.

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 panel

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

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

CoA-3-methylcrontonyl carboxylase 1 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MCCC1 gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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 panel

Epilepsy Panel

Estonia.

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 panel

MCCC1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the MCCC1 gene.

More info about this panel

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

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

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel Panel

United States.

By Invitae Invitae 3-Methylcrotonyl-CoA Carboxylase Panel that also includes the following genes: MCCC1 MCCC2

More info about this panel

Invitae Elevated C5-OH Panel Panel

United States.

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 panel

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

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

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 panel

3-methylcrotonyl-coA carboxylase deficiency: MCCC1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MCCC1 gene.

More info about this panel

3-methylcrotonyl-coA carboxylase deficiency: MCCC1 and MCCC2 genes sequence analysis Panel

Spain.

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 panel

ORGANIC ACIDEMIAS Panel

Spain.

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 panel

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Full Gene Sequencing Panel

United States.

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 panel

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Gene Deletion/Duplication Panel

United States.

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 panel

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

Intellectual Disability NGS Panel Panel

United States.

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 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

3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics 3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel that also includes the following genes: MCCC1 MCCC2

More info about this panel

MCCC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCCC1 gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

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 panel

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

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

Baby Genes Targeted Panel Panel

United States.

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 panel

3-Methylcrotonyl-CoA Carboxylase Deficiency NGS and Deletion/Duplication Panel Panel

United States.

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 panel

MCCC1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the MCCC1 gene.

More info about this panel

METHYLCROTONYLGLYCINURIA (3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY) Panel

Spain.

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 panel

3-Methylcrotonyl-CoA Carboxylase Deficiency, Sequencing MCCC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MCCC1 gene.

More info about this panel

Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

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 panel

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

3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D): Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MCCC1 gene.

More info about this panel

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

3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (Rapid testing) Panel

Canada.

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 panel

3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (RAPID testing) Panel

Canada.

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 panel


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