Details of Disease

General Information of Disease (ID: DIS87XW7)

Disease Name Lhermitte-Duclos disease
Synonyms LDD; dysplastic cerebellar gangliocytoma; dysplastic gangliocytoma of cerebellum; dysplastic gangliocytoma of the cerebellum
Definition Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
Disease Hierarchy
DISIYB1V: Mixed neuronal-glial tumor
DISOV08L: Central nervous system malformation
DIS87XW7: Lhermitte-Duclos disease
Disease Identifiers
MONDO ID
MONDO_0019002
MESH ID
D006223
UMLS CUI
C0391826
MedGen ID
140251
HPO ID
HP:0500009
Orphanet ID
65285
SNOMED CT ID
128791005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PTEN TTEUQ4M Supportive Autosomal dominant [1]
FGFR2 TTGJVQM moderate Biomarker [2]
ADAMTS4 TTYG6BU Strong Genetic Variation [3]
GDF5 TT37XV9 Strong Genetic Variation [4]
IL18RAP TTZUJVE Strong Genetic Variation [5]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTEN OTOWDUNT Supportive Autosomal dominant [1]
ACAN OTUOCW8K Strong Genetic Variation [3]
ADAMTS3 OT2U6VF5 Strong Genetic Variation [6]
ASPN OTYJM80N Strong Biomarker [7]
CILP OTKEY2NJ Strong Genetic Variation [8]
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References

1 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet. 2003 Nov;73(5):1191-8. doi: 10.1086/379382. Epub 2003 Oct 17.
2 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137.
3 Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes.PLoS One. 2017 Jan 12;12(1):e0169835. doi: 10.1371/journal.pone.0169835. eCollection 2017.
4 Association between GDF5 single nucleotide polymorphism rs143383 and lumbar disc degeneration.Exp Ther Med. 2018 Sep;16(3):1900-1904. doi: 10.3892/etm.2018.6382. Epub 2018 Jun 29.
5 IL18RAP polymorphisms and its plasma levels in patients with Lumbar disc degeneration.Clin Neurol Neurosurg. 2019 Sep;184:105374. doi: 10.1016/j.clineuro.2019.105374. Epub 2019 May 22.
6 Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population.J Orthop Res. 2016 May;34(5):860-4. doi: 10.1002/jor.23081. Epub 2015 Nov 23.
7 Association of the asporin D14 allele with lumbar-disc degeneration in Asians.Am J Hum Genet. 2008 Mar;82(3):744-7. doi: 10.1016/j.ajhg.2007.12.017. Epub 2008 Feb 21.
8 Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.J Mol Neurosci. 2018 Nov;66(3):378-382. doi: 10.1007/s12031-018-1182-3. Epub 2018 Oct 4.