Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
11 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hamel cerebro-palato-cardiac syndrome

APP PQBP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
PQBP1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Hamel cerebro-palato-cardiac syndrome
PQBP1



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hamel cerebro-palato-cardiac syndrome

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked recessive

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

Hamel cerebro-palato-cardiac syndrome

Very frequent
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Death in infancy
- External ear anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Short stature / dwarfism / nanism
- X-linked recessive inheritance



Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)