Details of Disease

General Information of Disease (ID: DISKCD2G)

Disease Name Methylcobalamin deficiency type cblE
Synonyms
homocystinuria-megaloblastic anemia, cblE complementation type; vitamin B12-responsive homocystinuria, cblE type; homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type; homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type; methylmalonic aciduria and homocystinuria type cblE; HMAE; homocystinuria due to defect in methylation Cbl e; methylcobalamin deficiency, cblE type; functional methionine synthase deficiency type cblE; methylcobalamin deficiency type cblE; homocystinuria-megaloblastic anemia, cbl e type
Definition An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
Disease Hierarchy
DISX5RWD: Homocystinuria without methylmalonic aciduria
DISKCD2G: Methylcobalamin deficiency type cblE
Disease Identifiers
MONDO ID
MONDO_0009354
MESH ID
C565510
UMLS CUI
C1856057
OMIM ID
236270
MedGen ID
344640
Orphanet ID
2169

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MTRR DE6NIY9 Limited Biomarker [1]
MTRR DE6NIY9 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MTRR OTJDHIC0 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 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.