Details of Disease

General Information of Disease (ID: DISYSIA1)

• Disease Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
• Synonyms: Methylenetetrahydro-folate reductase deficiency; MTHFR deficiency, thermolabile type; homocystinuria due to MTHFR deficiency; 5,10-alpha-methylenetetrahydro-folate reductase deficiency; methylenetetrahydrofolate reductase deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; 5,10 alpha methylenetetrahydro-folate reductase deficiency; homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity; Homocysteinuria due to methylenetetrahydro-folate reductase deficiency; MTHFR deficiency; methylene tetrahydrofolate reductase deficiency; homocystinuria due to methylene tetrahydrofolate reductase deficiency
• Definition: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DISK3N1S: Homocystinuria
  DISSPA57: Disorder of folate metabolism and transport
  DISYSIA1: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009353
  UMLS CUI: C1856058
  OMIM ID: 236250
  MedGen ID: 383829
  Orphanet ID: 395

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IKZF2	TTKT5NV	Limited	Biomarker	[1]
MTHFR	TTQWOU1	Definitive	Genetic Variation	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MTHFR	DEOXTPZ	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTHFR	OTUBJSR7	Definitive	Autosomal recessive	[3]

References

• [1] 1,25-Dihydroxyvitamin D(3) increases the methionine cycle, CD4(+) T cell DNA methylation and Helios(+)Foxp3(+) T regulatory cells to reverse autoimmune neurodegenerative disease.J Neuroimmunol. 2018 Nov 15;324:100-114. doi: 10.1016/j.jneuroim.2018.09.008. Epub 2018 Sep 21.
• [2] Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver.Mol Nutr Food Res. 2019 Feb;63(3):e1801001. doi: 10.1002/mnfr.201801001. Epub 2018 Nov 23.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.