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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
WAGR syndrome

APP BDNF
PAX6
WT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
WAGR syndrome
BDNF PAX6 WT1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
WAGR syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
- Rare renal 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
2 MeSH references: C538295 / D017624

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
WAGR syndrome

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



Very frequent
- Aniridia / iris hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Anomalies of ear and hearing
- Cataract / lens opacification
- Hypospadias / epispadias / bent penis
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Protruding lips
- Ptosis
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Ambiguous genitalia
- Generalized obesity
- Glaucoma
- Inguinal / inguinoscrotal / crural hernia
- Scoliosis