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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Persistent hyperplastic primary vitreous
Hereditary cerebral hemorrhage with amyloidosis, Italian type

ATOH7 APP
FZD4
NDP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Persistent hyperplastic primary vitreous
ATOH7 FZD4 NDP
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Persistent hyperplastic primary vitreous
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- PFVS
- PHPV
- Persistent fetal vasculature syndrome

Synonym(s):
- HCHWA, Italian type

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D054514
External references:
1 OMIM reference -
No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Italian type

Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus



Persistent hyperplastic primary vitreous

(no data available)