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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
26 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ataxia with vitamin E deficiency

APP TTPA


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Ataxia with vitamin E deficiency
TTPA



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ataxia with vitamin E deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- AVED
- Ataxia with isolated vitamin E deficiency
- Familial isolated vitamin E deficiency
- Friedreich-like ataxia
- Isolated vitamin E deficiency

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535393


COMMON
SIGNS
- Psychic / psychomotor regression / dementia / intellectual decline


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ataxia with vitamin E deficiency

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles



Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Muscle weakness / flaccidity
- Peripheral neuropathy
- Pyramidal syndrome

Frequent
- Elocution disorders / dysarthria / dysphonia
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Night blindness / hemeralopia
- Nystagmus
- Pes cavus
- Scoliosis
- Sensitive trouble / deficit

Occasional
- Abnormal VEP / Visual evoked potential
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Diabetes mellitus
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Retinitis pigmentosa / retinal pigmentary changes
- Tremor
- Visual loss / blindness / amblyopia