Inborn disorder of cobalamin metabolism and transport
MONDO:0019220An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
Also known as: cobalamin deficiency, hypocobalaminemia, inborn disorder of cobalamin metabolism and transport, inborn error of cobalamin metabolic process, inborn vitamin B12 deficiency (disease), rare inborn error of cobalamin metabolic process, disorder of cobalamin metabolism and transport
14 clinical trials for this condition and its sub-types, 1 tagged with Inborn disorder of cobalamin metabolism and transport itself.
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Sub-types of Inborn disorder of cobalamin metabolism and transport
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Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types
6 sub-types
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Methylmalonic aciduria and homocystinuria type cblD 2 trials
- Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
- Methylmalonic aciduria and homocystinuria type cblF 1 trial
- Methylmalonic acidemia with homocystinuria, type cblX 0 trials
- Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
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Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
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Methylmalonic aciduria and/or homocystinuria, cblD type 0 trials · 2 incl. sub-types
3 sub-types
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Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types
3 sub-types
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1 sub-type
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Transcobalamin II deficiency 1 trial
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Imerslund-Grasbeck syndrome 0 trials
2 sub-types
- Imerslund-Grasbeck syndrome type 1 0 trials
- Imerslund-Grasbeck syndrome type 2 0 trials
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Transcobalamin I deficiency 0 trials