transcobalamin II deficiency
ORPHA: 859
Overview
vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with transcobalamin II deficiency, sourced from HPO and Orphanet clinical annotations.
ThrombocytopeniaDecreased total neutrophil countPancytopeniaDecreased total lymphocyte countAcute kidney injuryMegaloblastic bone marrowDecreased circulating IgA concentrationDecreased circulating total IgMAbnormality of chromosome stabilityDecreased circulating immunoglobulin concentrationDecreased circulating IgG concentrationMethylmalonic aciduria
Classification & Codes
Orphanet Code
ORPHA:859transcobalamin II deficiency
| Orphanet | ORPHA:859 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO