Transcobalamin II Deficiency

Alternative Names

  • TC II Deficiency
  • TCN2 Deficiency

Associated Genes

Transcobalamin II
Back to search Result
WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Nutritional anaemias

OMIM Number

275350

Mode of Inheritance

Autosomal recessive

Gene Map Locus

22q12.2

Description

Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
275350.1.1LebanonFemaleYes Hypotonia; Failure to thrive; Pancyt...TCN2, 2,152-BP DEL AND 4-BP INSHomozygousAutosomal, RecessiveHäberle et al. 2009
© CAGS 2024. All rights reserved.