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Transcobalamin deficiency

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Juvenile myelomonocytic leukemia

1 OMIM reference -
5 associated genes
No signs/symptoms info

Transcobalamin deficiency

Juvenile myelomonocytic leukemia

TCN2	(UniProt - OMIM)		CBL	(UniProt - OMIM)
			KRAS	(UniProt - OMIM)
			NF1	(UniProt - OMIM)
			NRAS	(UniProt - OMIM)
			PTPN11	(UniProt - OMIM)


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

Citations in the biomedical literature:

Transcobalamin deficiency		Juvenile myelomonocytic leukemia
	Synonym(s): - Inherited deficiency of transcobalamin - Transcobalamin II deficiency		Synonym(s): - Juvenile chronic myelomonocytic leukemia

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

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

	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		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054429

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)