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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Tietz syndrome

APP MITF


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Tietz syndrome
MITF



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Tietz syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Hypopigmentation-deafness syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

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

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536919


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Tietz syndrome

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / decreased / thin eyebrows
- Anterior chamber anomaly
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hearing loss / hypoacusia / deafness