Transcobalamin II deficiency

MONDO:0010149

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.

Also known as: TCN2 deficiency, inherited deficiency of transcobalamin, transcobalamin II deficiency, TC 2 deficiency, Tcn2 deficiency, transcobalamin 2 deficiency, transcobalamin deficiency

21 clinical trials for this condition and its sub-types, 1 tagged with Transcobalamin II deficiency itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Immune system disorder (12959) ↑ Hereditary anemia (13) ↑ Inborn disorder of cobalamin metabolism and transport (3)

Including sub-types (21) Tagged with Transcobalamin II deficiency (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Transcobalamin II deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth