MTRR gene related symptoms and diseases
All the information presented here about the MTRR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTRR gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Megaloblastic anemia | Uncommon - Between 30% and 50% cases |
Spinal dysraphism | Uncommon - Between 30% and 50% cases |
Myelomeningocele | Uncommon - Between 30% and 50% cases |
Anencephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MTRR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spina bifida
- Abnormal heart morphology
- Abnormality of metabolism/homeostasis
- Hypomethioninemia
- Decreased methionine synthase activity
- Hyperhomocystinemia
- Decreased methylcobalamin
- Homocystinuria
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTRR gene
Here you will find a list of rare diseases related to the MTRR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
METHYLCOBALAMIN DEFICIENCY TYPE CBLE
Alternate names
METHYLCOBALAMIN DEFICIENCY TYPE CBLE Is also known as functional methionine synthase deficiency type cble, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type, methylcobalamin deficiency, cble type, vitamin b12-responsive homocystinuria, cble type
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 (MTR ). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, 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 and CblG (OMIM ) (Watkins and Rosenblatt, 1988). 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).CblG is caused by mutation in the MTR gene.
Most common symptoms of METHYLCOBALAMIN DEFICIENCY TYPE CBLE
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Nystagmus
More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLE
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
Search interest in MTRR
Potential gene panels for MTRR 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 panelMTRR Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTRR gene.
More info about this panelMTRR Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTRR gene.
More info about this panelMTRR Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTRR gene.
More info about this panelMTRR Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MTRR gene.
More info about this panelCobalamin Metabolism Panel (MitomeNGS) Panel
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 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 panelCobalamin/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 panelCobalamin E Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the MTRR gene.
More info about this panelNGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
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 panelHomocystinuria-megaloblastic anemia, cbl E type (sequence analysis of MTRR gene) Panel
By CGC Genetics
This panel specifically test the MTRR gene.
More info about this panelMethylmalonic 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 panelHomocystinuria, cblE Type, via MTRR Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MTRR gene.
More info about this panelHomocystinuria Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Homocystinuria Sequencing Panel with CNV Detection that also includes the following genes: CBS MMADHC MTHFR MTR MTRR
More info about this panelDisorders 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 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 panel5-Methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the MTRR gene.
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 panelHomocystinuria-megaloblastic anemia, cbl E type Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MTRR gene.
More info about this panelSpina bifida folate sensitive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MTRR gene.
More info about this panelAllNeuro 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 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 panelMethylmalonic 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 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 Homocystinuria Panel Panel
By Invitae Invitae Homocystinuria Panel that also includes the following genes: CBS MTHFR MTR MTRR
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 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 panelCobalamin Homocysteine Methionine Deficiency NGS Panel Panel
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 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 panelMTRR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTRR gene.
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 panelHomocystinuria Core Panel Panel
By Blueprint Genetics Homocystinuria Core Panel that also includes the following genes: CBS MTHFR MTR MTRR
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 panelMETHYLCOBALAMIN DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL METHYLCOBALAMIN DEFICIENCY that also includes the following genes: MMADHC MTR MTRR
More info about this panelNeural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelHomocystinuria: gene sequencing panel (RAPID testing) Panel
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 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 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 panelcblE complementation type homocystinuria-megaloblastic anemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MTRR gene.
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