Details of Disease | DrugMAP

General Information of Disease (ID: DIS9BHXU)

Disease Name	Constitutional megaloblastic anemia with severe neurologic disease
Synonyms	megaloblastic anemia due to dihydrofolate reductase deficiency; megaloblastic anaemia due to dihydrofolate reductase deficiency; DHFR deficiency; dihydrofolate reductase deficiency
Disease Hierarchy	DISQL71U: Inherited deficiency anemia DISVIZPC: Megaloblastic anemia DISSPA57: Disorder of folate metabolism and transport DIS9BHXU: Constitutional megaloblastic anemia with severe neurologic disease
Disease Identifiers	MONDO ID MONDO_0013456 MESH ID C565095 UMLS CUI C3151205 OMIM ID 613839 MedGen ID 462555 Orphanet ID 319651 SNOMED CT ID 866092006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DHFR	TTYZVDJ	Limited	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHFR	DE4EGMZ	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHFR	OT3DVIGM	Definitive	Autosomal recessive	[2]
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References

1	Knockout of dihydrofolate reductase in mice induces hypertension and abdominal aortic aneurysm via mitochondrial dysfunction.Redox Biol. 2019 Jun;24:101185. doi: 10.1016/j.redox.2019.101185. Epub 2019 Mar 29.
2	Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet. 2011 Feb 11;88(2):226-31. doi: 10.1016/j.ajhg.2011.01.007.