ODCs

Cytoscape Web

Click node...

1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Italian type

1 OMIM reference -
1 associated gene
7 signs/symptoms

MPI-CDG

Hereditary cerebral hemorrhage with amyloidosis, Italian type

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

MPI-CDG		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - CDG syndrome type Ib - CDG-Ib - CDG1B - Carbohydrate deficient glycoprotein syndrome type Ib - Congenital disorder of glycosylation type 1b - Congenital disorder of glycosylation type Ib - Phosphomannose isomerase deficiency		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Inborn errors of metabolism - Rare circulatory system disease - Rare gastroenterologic disease - Rare genetic disease - Rare hepatic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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

MPI-CDG		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Congenital hepatic fibrosis - Hepatocellular liver disease / hepatic failure - Malabsorption / chronic diarrhea / steatorrhea Frequent - Hypoglycemia - Lymphedema		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