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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
17 signs/symptoms
Huntington disease
Neuroferritinopathy

HTT FTL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
FTL



Citations in the biomedical literature:


Huntington disease
HTT
Neuroferritinopathy
FTL



Huntington disease
Neuroferritinopathy

Synonym(s):
- Huntington chorea

Synonym(s):
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
1 MeSH reference: C548080


COMMON
SIGNS
- Autosomal dominant inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / psychomotor regression / dementia / intellectual decline


Huntington disease
Neuroferritinopathy

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Movement disorder
- Psychic / behavioural troubles



Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Dystonia / torticollis / writer's cramp / blepharospasms

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Motor deficit / trouble

Occasional
- Alexia / agraphia / writing / reading troubles
- Constipation
- Elocution disorders / dysarthria / dysphonia
- Hypotension
- Obnubilation / coma / lethargia / desorientation
- Tremor