MTHFR gene related symptoms and diseases

All the information presented here about the MTHFR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,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 MTHFR gene

Symptoms // Phenotype	% Cases
Intellectual disability	Rare - less than 30% cases
Neoplasm	Rare - less than 30% cases
Neurofibrillary tangles	Rare - less than 30% cases
Behavioral abnormality	Rare - less than 30% cases
Hallucinations	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with MTHFR gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Microcephaly
Dementia
Abnormal heart morphology
Delusions
Alzheimer disease
Abnormality of cardiovascular system morphology
Neural tube defect
Anencephaly

And 178 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MTHFR gene

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

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Alternate names

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 Is also known as thrombophilia due to factor 2 defect, venous thromboembolism, venous thrombosis

Description

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). Genetic Heterogeneity of ThrombophiliaTHPH2 (OMIM ) is caused by mutation in the F5 gene (OMIM ) on chromosome 1q23; THPH3 (OMIM ) and THPH4 (OMIM ) are both caused by mutation in the PROC gene (OMIM ) on 2q; THPH5 (OMIM ) and THPH6 (OMIM ) are caused by mutation in the PROS1 gene (OMIM ) on 3q11; THPH7 (OMIM ) is caused by mutation in the AT3 gene (OMIM ) on 1q25; THPH8 (OMIM ) is caused by mutation in the F9 gene (OMIM ) on Xq27; THPH9 (OMIM ) is associated with decreased release of tissue plasminogen activator (PLAT ); THPH10 (OMIM ) is caused by mutation in the HCF2 gene (OMIM ) on 22q11; THPH11 (OMIM ) is caused by mutation in the HRG gene (OMIM ) on 3q27; and THPH12 (OMIM ) is associated with variation in the THBD gene (OMIM ) on 20p11.Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1 ); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 (OMIM ) and HABP2 (OMIM ) genes has also been reported.Protection against venous thrombosis is associated with variation in the F13A1 gene (OMIM ) on 6p25.

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Neoplasm
Gastrointestinal hemorrhage
Venous thrombosis
Thromboembolism
Pulmonary embolism

More info about THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

SOURCES: OMIM

DOWN SYNDROME

Alternate names

DOWN SYNDROME Is also known as trisomy 21

Description

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Most common symptoms of DOWN SYNDROME

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment

More info about DOWN SYNDROME

SOURCES: ORPHANET MESH OMIM

ISOLATED ANENCEPHALY/EXENCEPHALY

Description

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Most common symptoms of ISOLATED ANENCEPHALY/EXENCEPHALY

Hypertelorism
Cleft palate
Talipes equinovarus
Hydrocephalus
Abnormality of cardiovascular system morphology

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

SOURCES: ORPHANET OMIM

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Alternate names

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency, mthfr deficiency, methylene tetrahydrofolate reductase deficiency

Description

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

Most common symptoms of HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

SOURCES: OMIM ORPHANET

SCHIZOPHRENIA; SCZD

Alternate names

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Description

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

Most common symptoms of SCHIZOPHRENIA; SCZD

Intellectual disability
Microcephaly
Behavioral abnormality
Depressivity
Dementia

More info about SCHIZOPHRENIA; SCZD

SOURCES: OMIM

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

TOTAL SPINA BIFIDA APERTA

More info about TOTAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA APERTA

More info about THORACOLUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA APERTA

More info about LUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA APERTA

More info about CERVICAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA APERTA

More info about CERVICOTHORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA APERTA

More info about UPPER THORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

TOTAL SPINA BIFIDA CYSTICA

More info about TOTAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA

More info about THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA CYSTICA

More info about LUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA CYSTICA

More info about CERVICAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA CYSTICA

More info about CERVICOTHORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA CYSTICA

More info about UPPER THORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

Search interest in MTHFR

Potential gene panels for MTHFR gene

MTHFR Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the MTHFR gene.

MTHFR gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MTHFR gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to MTHFR gene

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Alternate names

Description

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

DOWN SYNDROME

Alternate names

Description

Most common symptoms of DOWN SYNDROME

ISOLATED ANENCEPHALY/EXENCEPHALY

Description

Most common symptoms of ISOLATED ANENCEPHALY/EXENCEPHALY

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Alternate names

Description

Most common symptoms of HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

SCHIZOPHRENIA; SCZD

Alternate names

Description

Most common symptoms of SCHIZOPHRENIA; SCZD

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

Alternate names

Description

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

TOTAL SPINA BIFIDA APERTA

THORACOLUMBOSACRAL SPINA BIFIDA APERTA

LUMBOSACRAL SPINA BIFIDA APERTA

CERVICAL SPINA BIFIDA APERTA

CERVICOTHORACIC SPINA BIFIDA APERTA

UPPER THORACIC SPINA BIFIDA APERTA

TOTAL SPINA BIFIDA CYSTICA

THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA

LUMBOSACRAL SPINA BIFIDA CYSTICA

CERVICAL SPINA BIFIDA CYSTICA

CERVICOTHORACIC SPINA BIFIDA CYSTICA

UPPER THORACIC SPINA BIFIDA CYSTICA

Search interest in MTHFR

Potential gene panels for MTHFR gene

MTHFR Panel

MitoMet®Plus aCGH Analysis Panel

MTHFR Thermolabile Variant Analysis Panel

Thrombophilia Mutation Panel Panel

NGS Epilepsy/Seizure Panel Panel

MTHFR deficiency, thermolabile type Panel

Methylenetetrahydrofolate Reductase Deficiency Panel

MTHFR Analysis Panel

Methylmalonic Acidemia Sequencing NextGen Panel Panel

MTHFR (Methylenetetrahydrofolate Reductase) Panel

Hypercoagability Risk Panel Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Methylene Tetrahydrofolate Reductase genotyping Panel

MTHFR Targeted Mutation Analysis Panel

MTHFR Deletion/duplication analysis Panel

MTHFR Panel

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

Thrombotic Risk, DNA Panel Panel

Thrombophilic Polymorphism Panel (Factor V Leiden, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C) Panel

MTHFR Panel

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel

MTHFR Thermolabile Variant Panel

MTHFR Deficiency Panel

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

MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene Panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln), MTHFR (c.677C>T) and MTHFR (c.1298A>C) Panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln) and MTHFR (c.677C>T) Panel

MTHFR MUTATIONS Panel

MTHFR deficiency, thermolabile type Panel

5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes) Panel

MTHFR gene (sequence analysis) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene) Panel

MTHFR Sequence Analysis Panel

Folate polymorphism , MTHFR Panel

Homocysteinemia due to MTHFR deficiency Panel

MTHFR deficiency, thermolabile type Panel