Cytoscape Web
Click node...


1 OMIM reference -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Peters anomaly
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

CYP1B1 APP
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFB2
(0.77)
APP



Citations in the biomedical literature:


Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2

Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Peters anomaly
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- Peters congenital glaucoma

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

Classification (Orphanet):
(no data available)
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
1 MeSH reference: C537884
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Peters anomaly
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Microcornea

Frequent
- Corneal dystrophy

Occasional
- Anomalies of teeth and dentition
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dental malocclusion
- Hypoplastic mandibula / partial absence of the mandibula
- Nystagmus


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