MTHFD1 gene related symptoms and diseases
All the information presented here about the MTHFD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTHFD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormality of metabolism/homeostasis | Rare - less than 30% cases |
| Thrombocytosis | Rare - less than 30% cases |
| Decreased antibody level in blood | Rare - less than 30% cases |
| Bilateral sensorineural hearing impairment | Rare - less than 30% cases |
| Pancytopenia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with MTHFD1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Recurrent urinary tract infections
- Lymphopenia
- Leukopenia
- Combined immunodeficiency
- Macrocytic anemia
- Severe combined immunodeficiency
- Retinopathy
- Antinuclear antibody positivity
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTHFD1 gene
Here you will find a list of rare diseases related to the MTHFD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH
Alternate names
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency
Description
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).
Most common symptoms of COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH
- Intellectual disability
- Seizures
- Hearing impairment
- Sensorineural hearing impairment
- Anemia
More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH
SOURCES: OMIM
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 MTHFD1
Potential gene panels for MTHFD1 gene
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency (MTHFD1 gene) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the MTHFD1 gene.
More info about this panel Netherlands.
Tetrahydrofolate Metabolism Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Tetrahydrofolate Metabolism Deficiency NGS Panel that also includes the following genes: SHMT1 SLC19A1 MTHFD1L DHFR FOLR1 FPGS MTHFD1 MTHFS PTS
More info about this panel United States.
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 United States.
MTHFD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTHFD1 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
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 Finland.
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 Spain.
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