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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
7 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Isolated anophthalmia - microphthalmia

APP ALDH1A3
GDF3
OTX2
PRSS56
RAX
SOX2
VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
OTX2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Isolated anophthalmia - microphthalmia

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
(no data available)

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



Isolated anophthalmia - microphthalmia

(no data available)