Details of Disease | DrugMAP

General Information of Disease (ID: DISW33PR)

Disease Name	Hereditary progressive chorea without dementia
Synonyms	BCH; chorea, hereditary benign; hereditary progressive chorea without dementia; BHC; chorea, benign hereditary
Disease Hierarchy	DISD715V: Hereditary neurological disease DISH8K3M: Choreatic disease DISW33PR: Hereditary progressive chorea without dementia
Disease Identifiers	MONDO ID MONDO_0021011 MESH ID D002819 UMLS CUI C0393584 OMIM ID 118700 MedGen ID 98278 SNOMED CT ID 230306001

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
ADCY5	TTN64VU	Limited	Genetic Variation	[1]
KCNA5	TTW0CMT	Disputed	Genetic Variation	[2]
KCNA6	TTJ2W69	Disputed	Genetic Variation	[2]
CACNA2D2	TTU8P3M	Strong	Biomarker	[3]
PNKP	TTHR3IE	Strong	Biomarker	[4]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTF1	OT4K90WD	Limited	Genetic Variation	[5]
PAX9	OT25J0F7	Strong	Genetic Variation	[6]
MBIP	OTORHZ9Y	Definitive	Genetic Variation	[7]
NKX2-1	OTCMEJTA	Definitive	Autosomal dominant	[8]
SGCE	OT9F17JB	Definitive	Biomarker	[9]
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References

1	Phenotypic insights into ADCY5-associated disease.Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
2	Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
3	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.
4	PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.Parkinsonism Relat Disord. 2019 Jul;64:342-345. doi: 10.1016/j.parkreldis.2019.03.012. Epub 2019 Apr 1.
5	Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.J Neurol Sci. 2016 Jan 15;360:78-83. doi: 10.1016/j.jns.2015.11.050. Epub 2015 Nov 27.
6	New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.Mov Disord. 2006 Dec;21(12):2237-40. doi: 10.1002/mds.21135.
7	Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?.Eur J Med Genet. 2018 Oct;61(10):581-584. doi: 10.1016/j.ejmg.2018.03.011. Epub 2018 Apr 3.
8	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
9	Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.Dev Med Child Neurol. 2012 Jul;54(7):618-23. doi: 10.1111/j.1469-8749.2012.04287.x. Epub 2012 Apr 19.