Details of Disease

General Information of Disease (ID: DIS1IQJG)

• Disease Name: Juvenile Huntington disease
• Synonyms: Huntington disease, juvenile onset; juvenile onset HD; juvenile Huntington chorea; JHD
• Definition: Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.
• Disease Hierarchy:
  DISQPLA4: Huntington disease
  DIS1IQJG: Juvenile Huntington disease
• Disease Identifiers:
  MONDO ID: MONDO_0016621
  MESH ID: D006816
  UMLS CUI: C0751208
  MedGen ID: 155518
  Orphanet ID: 248111
  SNOMED CT ID: 230299004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HTT	TTIWZ0O	Supportive	Autosomal dominant	[1]
DIABLO	TTN74LE	moderate	Biomarker	[2]
GDNF	TTF23ML	moderate	Therapeutic	[3]
MAOA	TT3WG5C	moderate	Biomarker	[4]
MAOB	TTGP7BY	moderate	Biomarker	[4]
OGG1	TTRU01G	moderate	Biomarker	[5]
SLC29A1	TTLXAKE	moderate	Biomarker	[6]
CNR1	TT6OEDT	Strong	Biomarker	[7]
HTT	TTIWZ0O	Strong	Genetic Variation	[8]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FAAH	DEUM1EX	Strong	Biomarker	[7]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HTT	OTKN8P85	Supportive	Autosomal dominant	[1]
AIFM1	OTKPWB7Q	moderate	Biomarker	[2]
IP6K2	OTCUMUUP	moderate	Biomarker	[9]
RCAN1	OT1MVXC7	moderate	Biomarker	[10]

References

• [1] The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet. 2007 May;71(Pt 3):295-301. doi: 10.1111/j.1469-1809.2006.00335.x. Epub 2006 Dec 19.
• [2] Minocycline inhibits caspase-independent and -dependent mitochondrial cell death pathways in models of Huntington's disease.Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10483-7. doi: 10.1073/pnas.1832501100. Epub 2003 Aug 20.
• [3] Neuroprotection by GDNF-secreting stem cells in a Huntington's disease model: optical neuroimage tracking of brain-grafted cells.Gene Ther. 2007 Jan;14(2):118-28. doi: 10.1038/sj.gt.3302847. Epub 2006 Aug 31.
• [4] Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington's disease revealed by quantitative enzyme radioautography.Brain Res. 2011 Jan 25;1370:204-14. doi: 10.1016/j.brainres.2010.11.020. Epub 2010 Nov 11.
• [5] The hOGG1 Ser326Cys polymorphism and Huntington's disease.Toxicology. 2010 Dec 5;278(2):199-203. doi: 10.1016/j.tox.2009.10.019. Epub 2009 Oct 24.
• [6] Equilibrative nucleoside transporter ENT1 as a biomarker of Huntington disease.Neurobiol Dis. 2016 Dec;96:47-53. doi: 10.1016/j.nbd.2016.08.013. Epub 2016 Aug 24.
• [7] Loss of striatal type 1 cannabinoid receptors is a key pathogenic factor in Huntington's disease. Brain. 2011 Jan;134(Pt 1):119-36. doi: 10.1093/brain/awq278. Epub 2010 Oct 7.
• [8] Juvenile Huntington's Disease Skin Fibroblasts Respond with Elevated Parkin Level and Increased Proteasome Activity as a Potential Mechanism to Counterbalance the Pathological Consequences of Mutant Huntingtin Protein.Int J Mol Sci. 2019 Oct 26;20(21):5338. doi: 10.3390/ijms20215338.
• [9] Inositol hexakisphosphate kinases induce cell death in Huntington disease.J Biol Chem. 2011 Jul 29;286(30):26680-6. doi: 10.1074/jbc.M111.220749. Epub 2011 Jun 7.
• [10] Regulator of calcineurin (RCAN1-1L) is deficient in Huntington disease and protective against mutant huntingtin toxicity in vitro.J Biol Chem. 2009 May 1;284(18):11845-53. doi: 10.1074/jbc.M900639200. Epub 2009 Mar 6.