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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Huntington disease
Papilloma of choroid plexus

HTT TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.9)
TP53



Citations in the biomedical literature:


Huntington disease
HTT
Papilloma of choroid plexus
TP53



Huntington disease
Papilloma of choroid plexus

Synonym(s):
- Huntington chorea

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

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

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:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
1 MeSH reference: D020288


COMMON
SIGNS
- Hypertonia / spasticity / rigidity / stiffness


Huntington disease
Papilloma of choroid plexus

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal dominant inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Movement disorder
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus