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7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Total congenital cataract
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

CRYBB2 APP
CRYGB
EPHA2
MIP
NHS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPHA2
(0.56)
APP



Citations in the biomedical literature:


Total congenital cataract
CRYBB2 CRYGB EPHA2 MIP NHS
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Total congenital cataract
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
1 MeSH reference: C535341
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Total congenital cataract

(no data available)