Transcobalamin II deficiency

Preferred Label : Transcobalamin II deficiency;

Symbol : TCN2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tc II deficiency; Tcn2 deficiency;

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 (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transcobalamin II gene (TCN2, 613441.0001);

Laboratory abnormalities : Normal serum cobalamin; Normal serum folate; Reduced unsaturated serum cobalamin binding capacity; Abnormal Schilling test (not normalized by addition of intrinsic factor); Transcobalamin II deficiency; Methylmalonic aciduria;

Prefixed ID : #275350;

Details

Origin ID

275350;

UMLS CUI

C0342701;

Currated CISMeF NLP mapping
- Hereditary megaloblastic anaemia due to transcobalamin deficiency [ICD-11 More detail]
- Transcobalamin II Deficiency [NCIt concept]
- Transcobalamin II deficiency [ICD-10 Sub-category]
- Transcobalamin II deficiency [ICD-10 Sub-category (who)]
- Transcobalamin II deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]
- transcobalamin II deficiency [DO Concept]
DO Cross reference
- transcobalamin II deficiency [DO Concept]
Genes related to phenotype
- Transcobalamin II [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Macrocytic anemia [HPO term]
- Megaloblastic bone marrow [HPO term]
- Methylmalonic aciduria [HPO term]
- Muscle weakness [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Reticulocytopenia [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
Not associated HPO term(s)
- Abnormal blood folate concentration [HPO term]
- Abnormal vitamin B12 level [HPO term]
ORDO concept(s)
- Transcobalamin deficiency [ORDO Disease]
See also inter- (CISMeF)
- transcobalamin I deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary megaloblastic anaemia due to transcobalamin deficiency [ICD-11 More detail]
- Transcobalamin II Deficiency [NCIt concept]
- Transcobalamin II deficiency [ICD-10 Sub-category (who)]
- Transcobalamin II deficiency [ICD-10 Sub-category]
- Transcobalamin II deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]
- transcobalamin II deficiency [DO Concept]

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