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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Bowen-Conradi syndrome

APP EMG1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
EMG1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Bowen-Conradi syndrome
EMG1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Bowen-Conradi syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Bowen syndrome, Hutterite type

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537081

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Bowen-Conradi syndrome

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



Very frequent
- Autosomal recessive inheritance
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Sloping forehead

Frequent
- Camptodactyly of fingers
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Intrauterine growth retardation
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Cleft lip and palate
- Congenital cardiac anomaly / malformation / cardiopathy
- Dilated cerebral ventricles without hydrocephaly
- Seizures / epilepsy / absences / spasms / status epilepticus