Details of Disease

General Information of Disease (ID: DISUMR0A)

Disease Name Cerebral degeneration
Synonyms neurodegenerative disease of telencephalon; telencephalon neurodegenerative disease; cerebral degeneration
Definition A neurodegenerative disease that involves the telencephalon.
Disease Hierarchy
DIS6ZC3X: Brain disease
DISM20FF: Neurodegenerative disease
DISUMR0A: Cerebral degeneration
Disease Identifiers
MONDO ID
MONDO_0024238
UMLS CUI
C0154671
MedGen ID
56343
HPO ID
HP:0007313
SNOMED CT ID
418143002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ASPA TT6TLZP Definitive Genetic Variation [1]
SLC19A3 TT9BTWM Definitive Genetic Variation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FXN DEXVHDB Strong Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TAF1 OTDYS5G4 Strong Genetic Variation [4]
TET3 OT76U3YF Definitive Biomarker [5]
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References

1 Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?.Neurochem Res. 2009 Sep;34(9):1523-34. doi: 10.1007/s11064-009-9958-z. Epub 2009 Mar 25.
2 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12.
3 Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia.Front Mol Neurosci. 2018 Mar 6;11:38. doi: 10.3389/fnmol.2018.00038. eCollection 2018.
4 Genetics and pharmacological treatment of dystonia.Int Rev Neurobiol. 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5.
5 Induction of DNA Hydroxymethylation Protects the Brain After Stroke.Stroke. 2019 Sep;50(9):2513-2521. doi: 10.1161/STROKEAHA.119.025665. Epub 2019 Jul 22.