Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Situs ambiguus
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

ACVR2B APP
CCDC11
CFC1
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CCDC11
(0.56)
APP



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Situs ambiguus
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- Incomplete situs inversus
- Partial situs inversus
- Situs ambiguous

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Situs ambiguus

(no data available)