ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Transcobalamin deficiency


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

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Transcobalamin deficiency
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Inherited deficiency of transcobalamin - Transcobalamin II deficiency

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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 - No MeSH references		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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)