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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
MPI-CDG
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

MPI APP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



MPI-CDG
Hereditary cerebral hemorrhage with amyloidosis, Piedmont 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, Piedmont 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, Piedmont type

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

Frequent
- Hypoglycemia
- Lymphedema



Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality