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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Juvenile myelomonocytic leukemia
Transcobalamin deficiency

CBL TCN2
KRAS
NF1
NRAS
PTPN11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.56)
TCN2



Citations in the biomedical literature:


Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11
Transcobalamin deficiency
TCN2



Juvenile myelomonocytic leukemia
Transcobalamin deficiency

Synonym(s):
- Juvenile chronic myelomonocytic leukemia

Synonym(s):
- Inherited deficiency of transcobalamin
- Transcobalamin II deficiency

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
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 -
1 MeSH reference: D054429
External references:
1 OMIM reference -
No MeSH references

Transcobalamin deficiency

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



Juvenile myelomonocytic leukemia

(no data available)