ODCs

Click node...

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Transcobalamin deficiency

Hereditary cerebral hemorrhage with amyloidosis, Italian type


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

Citations in the biomedical literature:

Transcobalamin deficiency		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Inherited deficiency of transcobalamin - Transcobalamin II deficiency		Synonym(s): - HCHWA, Italian type

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (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		Epidemiological data: (no data available)

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

Transcobalamin deficiency		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	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		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus