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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in MTR

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

MTR gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MTR gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to MTR gene

METHYLCOBALAMIN DEFICIENCY TYPE CBLG

Alternate names

Description

Most common symptoms of METHYLCOBALAMIN DEFICIENCY TYPE CBLG

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

Alternate names

Description

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

Search interest in MTR

Potential gene panels for MTR gene

MitoMet®Plus aCGH Analysis Panel

Cobalamin Metabolism Panel (MitomeNGS) Panel

MTR Deletion/Duplication Analysis Panel

MTR Familial Mutation/Variant Analysis Panel

MTR Prenatal Sequence Analysis Panel

MTR Sequence Analysis Panel

MTR Sequence and Deletion/Duplication Analysis Panel

Methylmalonic Acidemia Sequencing NextGen Panel Panel

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel

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

MTR. Complete sequencing Panel

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

Methylmalonic aciduria (NGS panel for 15 genes) Panel

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

Homocystinuria Sequencing Panel with CNV Detection Panel

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

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

Homocystinuria, B12-responsive Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Methylcobalamin deficiency CblG type Panel

Methylmalonic Aciduria and Homocystinuria Panel

Invitae Homocystinuria Panel Panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

Invitae Treatable Neurometabolic Disorders Panel Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel

Intellectual Disability NGS Panel Panel

MTR Panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Comprehensive Hematology Panel Panel

Comprehensive Metabolism Panel Panel

Anemia Panel Panel

Homocystinuria Core Panel Panel

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG Panel

Baby Genes Targeted Panel Panel

METHYLCOBALAMIN DEFICIENCY Panel

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

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

Homocystinuria: gene sequencing panel (RAPID testing) Panel

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

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel