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Standards Ontologies Notations
methylmalonic aciduria and homocystinuria type cblF

Summary
Synonym
  • Cobalamin F deficiency
  • MAHCF
Definition
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Super Class
methylmalonic acidemia
Disease Ontology
DOID:0050717
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55788 LMBRD1 LMBR1 domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
68421 Lmbrd1 LMBR1 domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
246046 Lmbrd1 LMBR1 domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
323720 lmbrd1 LMBR1 domain containing 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
398468 lmbrd1.L LMBR1 domain containing 1 L homeolog Xenopus laevis (African clawed frog)
779630 lmbrd1 LMBR1 domain containing 1 Xenopus tropicalis (tropical clawed frog)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024