Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity (MTHFRD)

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OMIM® 57 236250 ICD10 via Orphanet 33 E72.1 UMLS via Orphanet 72 C1856061 Orphanet 58 ORPHA395

MedGen 41 C1856058 C1856059 CN068661 SNOMED-CT via HPO 68 1023001 11282001 127377003 128053003 128613002 192992007 20022000 214264003 22325002 224958001 228156007 230413002 230690007 230745008 246545002 247578003 248583008 249945007 25064002 25786006 258211005 26544005 267581004 271611007 277843001 278849000 281016006 29753000 302226006 302289002 312444006 313307000 36440009 37356005 386033004 418143002 42658009 432241000124101 432788009 50866000 52522001 54200006 563001 6669004 76976005 79631006 81308009 84757009 85102008 91019004 91138005 91175000 more UMLS 71 C0268615 C1856058 C1856061

GARD : ²⁰ 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 brain, spinal cord and eye, and related phenotypes are gait disturbance and abnormal enzyme/coenzyme activity

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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...

Clinical features from OMIM®:

236250 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance	GR00327-A	8.62	MTHFR MTR

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