ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Lhermitte-Duclos disease

Autoimmune lymphoproliferative syndrome with recurrent infections


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.63)	CASP8

Citations in the biomedical literature:

Lhermitte-Duclos disease		Autoimmune lymphoproliferative syndrome with recurrent infections
	Synonym(s): - Dysplastic gangliocytoma of the cerebellum - LDD		Synonym(s): - ALPS with recurrent infections

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 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
Autoimmune lymphoproliferative syndrome with recurrent infections
(no data available)