Details of Disease

General Information of Disease (ID: DISAPKM7)

Disease Name Methylmalonic aciduria and homocystinuria type cblF
Synonyms
cobalamin, defect in lysosomal release of; vitamin B12 storage disease; methylmalonic acidemia and homocystinuria, cblF type; MAHCF; cblF methylmalonic acidemia and homocystinuria; vitamin B12 lysosomal release defect; cobalamin locus f variant; cobalamin F disease; methylmalonic aciduria due to vitamin B12-release defect; methylmalonic acidemia with homocystinuria type cblF; methylmalonic aciduria and homocystinuria, cblF type; lysosomal membrane cobalamin transporter deficiency; cobalamin F defect; methylmalonic aciduria with homocystinuria, type cblF; inherited methylmalonic acidemia and homocystinuria; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; cblF defect; cobalamin F deficiency; methylmalonic aciduria and homocystinuria type cblF
Definition
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.|Editor note: TODO - relevant annotation from GO
Disease Hierarchy
DIS5921T: Methylmalonic aciduria and homocystinuria
DISAPKM7: Methylmalonic aciduria and homocystinuria type cblF
Disease Identifiers
MONDO ID
MONDO_0010183
MESH ID
C564747
UMLS CUI
C1848578
OMIM ID
277380
MedGen ID
336373
Orphanet ID
79284

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBRD1 OTZCIZH0 Definitive Autosomal recessive [1]
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References

1 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.