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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Lhermitte-Duclos disease
Kennedy disease

PTEN AR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.79)
AR



Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
Kennedy disease
AR



Lhermitte-Duclos disease
Kennedy disease

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

Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive

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

Lhermitte-Duclos disease
Kennedy 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


Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia