Details of Disease

General Information of Disease (ID: DISTUC4M)

Disease Name Inborn disorder of cobalamin metabolism and transport
Synonyms disorder of cobalamin metabolism and transport; inborn disorder of cobalamin metabolism and transport
Disease Hierarchy
DISCZESG: Disorder of vitamin and non-protein cofactor absorption and transport
DISTUC4M: Inborn disorder of cobalamin metabolism and transport
Disease Identifiers
MONDO ID
MONDO_0019220
UMLS CUI
C5681844
MedGen ID
1826150
Orphanet ID
79171

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
MMADHC OTP0UPL2 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.