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Lhermitte-Duclos disease

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
Uniprot Description A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome.
Mondo Term and Equivalent IDs
MONDO:0019002:  Lhermitte-Duclos disease
GARD:0006901: 
NCIT:C8419: 
Orphanet:65285: 
UMLS:C0391826: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found