MTR gene related symptoms and diseases

All the information presented here about the MTR 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 MTR gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Methylmalonic aciduria Uncommon - Between 30% and 50% cases
Unsteady gait Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Aciduria Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MTR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Generalized-onset seizure
  • Eczema
  • Paraparesis
  • Leukoencephalopathy
  • Slender finger
  • Macrocytic anemia
  • Optic neuropathy
  • Poor coordination

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MTR gene

Here you will find a list of rare diseases related to the MTR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


METHYLCOBALAMIN DEFICIENCY TYPE CBLG


Alternate names

METHYLCOBALAMIN DEFICIENCY TYPE CBLG Is also known as functional methionine synthase deficiency type cblg, methylcobalamin deficiency, cblg type, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type, methionine synthase deficiency

Description

Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE (OMIM ) and CblG (Watkins and Rosenblatt, 1988). Most patients present in early infancy, but some patients with CblG have shown later onset (Outteryck et al., 2012). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblE is caused by mutation in the MTRR gene (OMIM ).Watkins and Rosenblatt (1989) commented on the clinical and biochemical heterogeneity in patients with cblE and cblG.

Most common symptoms of METHYLCOBALAMIN DEFICIENCY TYPE CBLG

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLG

SOURCES: OMIM ORPHANET

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS


Alternate names

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS Is also known as ntd, folate-sensitive

Description

Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (OMIM ) (Detrait et al., 2005).Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.

Most common symptoms of NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology
  • Spina bifida
  • Anencephaly
  • Myelomeningocele


More info about NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

SOURCES: OMIM


Potential gene panels for MTR 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

Cobalamin Metabolism Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories Cobalamin Metabolism Panel (MitomeNGS) that also includes the following genes: TCN2 MMAA MMAB LMBRD1 MMACHC MMADHC MTR MTRR MMUT

More info about this panel

MTR Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTR gene.

More info about this panel

MTR Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTR gene.

More info about this panel

MTR Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTR gene.

More info about this panel

MTR Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTR gene.

More info about this panel

MTR Sequence and Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MTR gene.

More info about this panel

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

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

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

MTR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MTR gene.

More info about this panel

Homocystinuria-megaloblastic anemia, cblG complementation type (sequence analysis of MTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MTR gene.

More info about this panel

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

Homocystinuria, cblG Type, via MTR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MTR gene.

More info about this panel

Homocystinuria Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Homocystinuria Sequencing Panel with CNV Detection that also includes the following genes: CBS MMADHC MTHFR MTR MTRR

More info about this panel

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

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

Hyperhomocysteinemia due to Methionine synthase deficiency, cblG (MTR) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the MTR gene.

More info about this panel

Homocystinuria, B12-responsive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MTR gene.

More info about this panel

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

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

Methylcobalamin deficiency CblG type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MTR gene.

More info about this panel

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

Invitae Homocystinuria Panel Panel

United States.

By Invitae Invitae Homocystinuria Panel that also includes the following genes: CBS MTHFR MTR MTRR

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

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

Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC

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

MTR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MTR gene.

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 Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

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

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Homocystinuria Core Panel Panel

Finland.

By Blueprint Genetics Homocystinuria Core Panel that also includes the following genes: CBS MTHFR MTR MTRR

More info about this panel

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG Panel

Spain.

By Bioarray

This panel specifically test the MTR gene.

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

METHYLCOBALAMIN DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL METHYLCOBALAMIN DEFICIENCY that also includes the following genes: MMADHC MTR MTRR

More info about this panel

Homocystinuria caused by Cystathionine Beta-Synthase Deficiency, Sequencing MTR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MTR gene.

More info about this panel

Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: VANGL2 VANGL1 MMACHC FUZ MTHFD1 MTHFR MTR MTRR

More info about this panel

Homocystinuria: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Homocystinuria: gene sequencing panel (RAPID testing) that also includes the following genes: CBS MTHFR MTR MTRR

More info about this panel

cblG complementation type homocystinuria-megaloblastic anemia: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MTR gene.

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

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


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