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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Hereditary cerebral hemorrhage with amyloidosis, Italian type

COL4A1 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
(0.52)
APP



Citations in the biomedical literature:


Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
COL4A1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- HANAC syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Synonym(s):
- HCHWA, Italian type

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
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



Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

(no data available)