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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
3 associated genes
6 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Brachydactyly type A2

APP BMP2
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, Arctic type
APP
Brachydactyly type A2
BMP2 BMPR1B GDF5



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Brachydactyly type A2

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Brachydactyly, Mohr-Wriedt type

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: <1 / 1 000 000
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: C537089


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Brachydactyly type A2

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Short hand / brachydactyly

Frequent
- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

Occasional
- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia