Details of Disease

General Information of Disease (ID: DISH8K3M)

Disease Name Choreatic disease
Synonyms hereditary chorea; Bch; hereditary progressive chorea without dementia; hereditary benign chorea; chorea, benign hereditary; BHC; benign familial chorea
Definition A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.
Disease Hierarchy
DISOJJ2D: Movement disorder
DISH8K3M: Choreatic disease
Disease Identifiers
MONDO ID
MONDO_0001595
MESH ID
D002819
UMLS CUI
C0008489
MedGen ID
3420
HPO ID
HP:0002072
Orphanet ID
1429
SNOMED CT ID
271700006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 17 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADCY5 TTN64VU Supportive Autosomal dominant [1]
CLCN3 TT8XNZ7 moderate Genetic Variation [2]
GABRA2 TTBMV1G moderate Genetic Variation [3]
HTT TTIWZ0O moderate Genetic Variation [4]
KCNMA1 TTE87WJ moderate Genetic Variation [5]
ADCY5 TTN64VU Strong Genetic Variation [6]
C9orf72 TTA4SHR Strong Genetic Variation [7]
CACNA2D2 TTU8P3M Strong Biomarker [8]
DYSF TTA7MXQ Strong Altered Expression [9]
KCNA1 TTS3DIK Strong Genetic Variation [10]
PDE10A TTJW4LU Strong Genetic Variation [11]
PDE2A TTJGW1Z Strong Genetic Variation [12]
SLC18A2 TTNZRI3 Strong Biomarker [13]
TREM2 TTQRMSJ Strong Genetic Variation [14]
GNAO1 TTAXD8Z Definitive Genetic Variation [15]
KCNA5 TTW0CMT Definitive Genetic Variation [10]
KCNA6 TTJ2W69 Definitive Genetic Variation [10]
------------------------------------------------------------------------------------
⏷ Show the Full List of 17 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC16A2 DTQ8MP1 Strong Biomarker [16]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PRODH DEVJIHS moderate Genetic Variation [17]
FXN DEXVHDB Strong Genetic Variation [18]
------------------------------------------------------------------------------------
This Disease Is Related to 21 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNTNAP2 OT48T2ZP Limited Biomarker [19]
LGI1 OTPS77HO Limited Genetic Variation [19]
ADCY5 OTF2WIT0 Supportive Autosomal dominant [1]
NKX2-1 OTCMEJTA Supportive Autosomal dominant [20]
APTX OTPAS5G8 moderate Biomarker [21]
ATP8A2 OTDZC2ZT moderate Genetic Variation [22]
ATXN10 OTKRDUNN moderate Biomarker [23]
DPYSL5 OT6F9T6F moderate Genetic Variation [24]
FBXO7 OTGTN8TJ moderate Genetic Variation [25]
MED17 OTEZR5GC moderate Genetic Variation [26]
SGCE OT9F17JB moderate Genetic Variation [27]
ALG13 OTOH9PMY Strong CausalMutation [28]
DPP6 OTWW3H0K Strong Biomarker [19]
FOXG1 OTAW57J4 Strong Genetic Variation [29]
FRRS1L OT24ABVC Strong CausalMutation [30]
FTL OTYQA8A6 Strong Genetic Variation [31]
IGLON5 OTB94PY2 Strong Biomarker [19]
PANK2 OTFBW889 Strong Genetic Variation [32]
PRRT2 OTCJUBDO Strong Genetic Variation [33]
RNF216 OTR1XEZ3 Strong Biomarker [34]
TBP OT6C0S52 Definitive Genetic Variation [35]
------------------------------------------------------------------------------------
⏷ Show the Full List of 21 DOT(s)

References

1 ADCY5 mutations are another cause of benign hereditary chorea. Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17.
2 Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673.
3 A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30.
4 Molecular Imaging in Huntington's Disease.Int Rev Neurobiol. 2018;142:289-333. doi: 10.1016/bs.irn.2018.08.007. Epub 2018 Aug 29.
5 Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet. 2005 Jul;37(7):733-8. doi: 10.1038/ng1585. Epub 2005 Jun 5.
6 Phenotypic insights into ADCY5-associated disease.Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
7 C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.J Neurol. 2014 Oct;261(10):1917-21. doi: 10.1007/s00415-014-7430-8. Epub 2014 Jul 18.
8 entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.J Biol Chem. 2004 Feb 20;279(8):7322-30. doi: 10.1074/jbc.M308778200. Epub 2003 Dec 2.
9 A case of dysferlinopathy presenting choreic movements.Mov Disord. 2006 Sep;21(9):1513-5. doi: 10.1002/mds.21027.
10 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
11 Familial choreoathetosis due to novel heterozygous mutation in PDE10A.Am J Med Genet A. 2018 Jan;176(1):146-150. doi: 10.1002/ajmg.a.38507. Epub 2017 Nov 12.
12 A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2.
13 Treatment options for chorea.Expert Rev Neurother. 2018 Jan;18(1):51-63. doi: 10.1080/14737175.2018.1403899. Epub 2017 Nov 15.
14 Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.J Alzheimers Dis. 2018;63(1):195-201. doi: 10.3233/JAD-180018.
15 GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.Epileptic Disord. 2017 Mar 1;19(1):67-75. doi: 10.1684/epd.2017.0888.
16 X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.J Neurol. 2005 Jun;252(6):663-6. doi: 10.1007/s00415-005-0713-3. Epub 2005 Apr 18.
17 Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study.Schizophr Res. 2012 May;137(1-3):151-8. doi: 10.1016/j.schres.2012.02.012. Epub 2012 Mar 7.
18 Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.Mov Disord. 1998 Mar;13(2):339-40. doi: 10.1002/mds.870130223.
19 Antibody-associated CNS syndromes without signs of inflammation in the elderly.Neurology. 2017 Oct 3;89(14):1471-1475. doi: 10.1212/WNL.0000000000004541. Epub 2017 Sep 6.
20 Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol. 2003 Aug;54(2):244-7. doi: 10.1002/ana.10637.
21 Atypical presentation of ataxia-oculomotor apraxia type 1.Dev Med Child Neurol. 2006 Jun;48(6):529-32. doi: 10.1017/S0012162206001113.
22 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.
23 Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?.J Neurol Sci. 2014 Dec 15;347(1-2):356-8. doi: 10.1016/j.jns.2014.09.050. Epub 2014 Oct 8.
24 Paraneoplastic autoimmune movement disorders.Parkinsonism Relat Disord. 2017 Nov;44:106-109. doi: 10.1016/j.parkreldis.2017.08.017. Epub 2017 Oct 13.
25 FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.Parkinsonism Relat Disord. 2014 Nov;20(11):1253-6. doi: 10.1016/j.parkreldis.2014.07.016. Epub 2014 Aug 14.
26 Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).Brain Dev. 2016 Jan;38(1):118-23. doi: 10.1016/j.braindev.2015.05.004. Epub 2015 May 23.
27 Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.Mov Disord. 2007 Oct 31;22(14):2104-9. doi: 10.1002/mds.21692.
28 De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
29 Epilepsy and outcome in FOXG1-related disorders.Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub 2014 May 16.
30 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.
31 Neurodegeneration with brain iron accumulation.Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4.
32 Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y.
33 Movement disorders phenomenology in focal motor seizures.Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16.
34 RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
35 Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.Clin Genet. 2011 Nov;80(5):472-7. doi: 10.1111/j.1399-0004.2010.01589.x. Epub 2010 Nov 25.