ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

16 OMIM references -
4 associated genes
No signs/symptoms info

Transcobalamin deficiency

Early-onset autosomal dominant Alzheimer disease


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

Citations in the biomedical literature:

Transcobalamin deficiency		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - Inherited deficiency of transcobalamin - Transcobalamin II deficiency		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

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

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

	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: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 16 OMIM references - 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
Early-onset autosomal dominant Alzheimer disease
(no data available)