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7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
13 signs/symptoms
Posterior polar cataract
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

CHMP4B APP
CRYAB
EPHA2
GJA3
PITX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYAB
EPHA2
(0.81)
(0.56)
APP
APP



Citations in the biomedical literature:


Posterior polar cataract
CHMP4B CRYAB EPHA2 GJA3 PITX3
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Posterior polar cataract
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- Posterior subcapsular cataract

Synonym(s):
- HCHWA, Piedmont type

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:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Posterior polar cataract

(no data available)