Cytoscape Web
Click node...


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

MITF APP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Tietz syndrome
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Synonym(s):
- Hypopigmentation-deafness syndrome

Synonym(s):
- HCHWA, Iowa type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Autosomal dominant inheritance


Tietz syndrome
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

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



Very frequent
- Abnormal gait
- 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