Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Abruzzo-Erickson syndrome

APP TBX22


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
TBX22



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Abruzzo-Erickson syndrome
TBX22



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Abruzzo-Erickson syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Cleft palate - coloboma - deafness

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare urogenital 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: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535559


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Abruzzo-Erickson syndrome

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



Very frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Flat face
- Hypospadias / epispadias / bent penis
- Long / large ear

Frequent
- Coloboma of iris
- High vaulted / narrow palate
- Radioulnar synostosis
- Retinoschisis / retinal / chorioretinal coloboma
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Ulnar deviation of fingers
- X-linked recessive inheritance

Occasional
- Atrial septal defect / interauricular communication
- Conductive deafness / hearing loss
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- Grooved / dimple chin
- Microcornea
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of toes
- Tooth shape anomaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes