Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
11 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Brachydactyly type C

APP BMPR1B
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
BMPR1B



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Brachydactyly type C
BMPR1B GDF5



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Brachydactyly type C

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537093

Brachydactyly type C

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Clinodactyly of fifth finger
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)