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Inborn disorder of cobalamin metabolism and transport

MONDO:0019220

An 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

13 clinical trials for this condition and its sub-types.

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Sub-types

Methylmalonic aciduria and homocystinuria type cblC (3) Methylcobalamin deficiency type cblE (2) Methylcobalamin deficiency type cblG (2) Methylmalonic aciduria and homocystinuria type cblD (2) Methylmalonic aciduria, cblA type (2) Hereditary intrinsic factor deficiency (1) Methylmalonic acidemia with homocystinuria, type cblJ (1) Methylmalonic aciduria and homocystinuria (1) Methylmalonic aciduria and homocystinuria type cblF (1) Methylmalonic aciduria, cblB type (1) Transcobalamin II deficiency (1) Homocystinuria-megaloblastic anemia cblD type (0) Homocystinuria without methylmalonic aciduria (0) Imerslund-Grasbeck syndrome (0) Imerslund-Grasbeck syndrome type 1 (0) Imerslund-Grasbeck syndrome type 2 (0) Intrinsic factor and r binder, combined congenital deficiency of (0) Methylcobalamin deficiency type cblDv1 (0) Methylmalonic acidemia due to transcobalamin receptor defect (0) Methylmalonic acidemia with homocystinuria, type cblX (0)

Broader categories

Disease (680) Metabolic disease (233) Nutritional deficiency disease (221) Hereditary disease (176) Nutritional disorder (129) Inborn errors of metabolism (45) Human disease (14) Vitamin B12 deficiency (10) Vitamin deficiency disorder (9) Disease of genetic or genomic mechanism (2)
Trials to join now! 4 Not yet recruiting 4 Not yet finished but already full! 2 Completed 3
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