Details of Disease | DrugMAP

General Information of Disease (ID: DISRY7ST)

Disease Name	Transcobalamin II deficiency
Synonyms	transcobalamin deficiency; Tcn2 deficiency; transcobalamin 2 deficiency; TC 2 deficiency; TCN2 deficiency; transcobalamin II deficiency; inherited deficiency of transcobalamin
Definition	Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Disease Hierarchy	DISTUC4M: Inborn disorder of cobalamin metabolism and transport DISQL71U: Inherited deficiency anemia DIS4WFRS: Inborn vitamin B12 deficiency DISAEGPH: Immune system disorder DISRY7ST: Transcobalamin II deficiency
Disease Identifiers	MONDO ID MONDO_0010149 UMLS CUI C0342701 OMIM ID 275350 MedGen ID 137976 Orphanet ID 859 SNOMED CT ID 237934001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCN1	OTW6A49Y	Strong	Altered Expression	[1]
TCN2	OT41D0L3	Definitive	Autosomal recessive	[2]
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References

1	Transcobalamin II and its cell surface receptor.Vitam Horm. 2000;59:337-66. doi: 10.1016/s0083-6729(00)59012-8.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.