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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 2
14 OMIM references -
13 associated genes
No signs/symptoms info
Lhermitte-Duclos disease
Young adult-onset Parkinsonism

PTEN EIF4G1
GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
PTEN
(0.78)
(0.63)
PARK7
PINK1



Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Lhermitte-Duclos disease
Young adult-onset Parkinsonism

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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

Lhermitte-Duclos disease

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial nerves palsy
- Facial pain / cephalalgia / migraine
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly

Occasional
- Tall stature / gigantism / growth acceleration


Young adult-onset Parkinsonism

(no data available)