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Transcobalamin deficiency
1 OMIM reference -
1 associated gene
9 connected diseases
9 signs/symptoms
Disease Type of connection
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Synonym(s):
- Inherited deficiency of transcobalamin
- Transcobalamin II deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TCN2 P20062613441
Very frequent
- Anaemia
- Autosomal recessive inheritance
- Chromosome breakage
- Fragile chromosomal site (other than Xq28)
- Oligoelements metabolism anomalies

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Lymphopenia
- Polynuclear cells / neutrophils anomalies / neutropenia
- Thrombocytopenia / thrombopenia