MTHFRD
MCID: HMC041
MIFTS: 48
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Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity (MTHFRD)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...
MalaCards integrated aliases for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:
Name: Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity
56
71
Characteristics:Orphanet epidemiological data:58
homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two thirds of patients are female clinical severity varies age of onset ranges from neonate to adulthood HPO:31
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR . At least 40 rare MTHFR gene variants have been found in people with decreased or no working enzyme. Very common gene variants (C677T and A1298C) can cause some decrease in enzyme function. People with homocystinuria due to MTHFR deficiency tend to have two rare variants or sometimes a rare variant and a common variant. Very rarely people inherit a combination of three or four common variants from their parents (for example two C677T variants and two A1298C variants) and may also develop very high levels of homocystine in their body. Homocystinuria usually does not show symptoms in a newborn baby. If untreated, children show signs and symptoms of severe homocystinuria in infancy. Newborn screening in most states includes a screening test for homocystinuria so that newborn infants can be treated early in their lives. However, homocystinuria due to MTHFR variants can be milder, presenting in later childhood or in adulthood. Symptoms may include abnormal clotting, developmental delay , seizures , intellectual disability , and microcephaly . Severe homocystinuria can also be caused by gene variants in other genes besides MTHFR. For more information about other causes of homocystinuria, see the GARD page: https://rarediseases.info.nih.gov/diseases/10770/homocystinuria For more information on having two common MTHFR gene variants (specifically, C677T and A1298C) visit our page: MTHFR gene variant
MalaCards based summary : Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity, also known as methylenetetrahydrofolate reductase deficiency, is related to homocysteinemia and homocystinuria, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Affiliated tissues include testes, brain and eye, and related phenotypes are global developmental delay and behavioral abnormality OMIM : 56 Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992). (236250) UniProtKB/Swiss-Prot : 73 Methylenetetrahydrofolate reductase deficiency: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. Wikipedia : 74 Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels... more... |
Symptoms & Phenotypes for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...
Human phenotypes related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:58 31 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:236250UMLS symptoms related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:seizures, muscle weakness, muscle spasticity |
Drugs & Therapeutics for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...
Interventional clinical trials:
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MalaCards organs/tissues related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:40
Testes,
Brain,
Eye,
Spinal Cord,
Heart,
Liver,
Placenta
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Articles related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:(show top 50) (show all 229)
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ClinVar genetic disease variations for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:6 (show top 50) (show all 140)
UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:73 (show top 50) (show all 53)
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Search
GEO
for disease gene expression data for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity.
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Pathways related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity according to GeneCards Suite gene sharing:
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Biological processes related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity according to GeneCards Suite gene sharing:
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