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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
MPI-CDG

APP MPI


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
MPI-CDG
MPI



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
MPI-CDG

Synonym(s):
- HCHWA, Flemish 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

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

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

Epidemiological data:
(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

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

MPI-CDG

Very frequent
- Congenital hepatic fibrosis
- Hepatocellular liver disease / hepatic failure
- Malabsorption / chronic diarrhea / steatorrhea

Frequent
- Hypoglycemia
- Lymphedema



Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)