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

ALDH1A3
(UniProt - OMIM)
 APP
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PRSS56
(UniProt - OMIM)
RAX
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

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


Citations in the biomedical literature:


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



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

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Synonym(s):
- HCHWA, Italian type
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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
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, 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



Isolated anophthalmia - microphthalmia

(no data available)