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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
22 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Developmental malformations - deafness - dystonia

APP ACTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.63)
ACTB



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Developmental malformations - deafness - dystonia
ACTB



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Developmental malformations - deafness - dystonia

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

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
- Rare otorhinolaryngologic 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: childhood
Average age of death: -
Type of inheritance: unknown

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Psychic / psychomotor regression / dementia / intellectual decline


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Developmental malformations - deafness - dystonia

Very frequent
- Psychic / behavioural troubles



Very frequent
- Cleft lip and palate
- Dystonia / torticollis / writer's cramp / blepharospasms
- Early death in adulthood
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional colopathy / irritable bowel syndrome
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Sensorineural deafness / hearing loss
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Cataract / lens opacification
- Visual loss / blindness / amblyopia