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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Ocular albinism with congenital sensorineural deafness
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

MITF APP
TYR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Ocular albinism with congenital sensorineural deafness
MITF TYR
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



Ocular albinism with congenital sensorineural deafness
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism

Synonym(s):
- HCHWA, Iowa type

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

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

Epidemiological data:
(no data available)
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, Iowa type

Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia



Ocular albinism with congenital sensorineural deafness

(no data available)