Benign Hereditary Chorea malady

MalaCards: Benign Hereditary Chorea, also known as chorea, hereditary benign, is related to chorea and familial hypothyroidism. An important gene associated with Benign Hereditary Chorea is NKX2-1 (NK2 homeobox 1). The compounds sodium iodide and iodide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related mouse phenotypes are hearing/vestibular/ear and skeleton.

OMIM: 118700

benign hereditary chorea 16 43 chorea, hereditary benign 33 chorea benign hereditary 32

chorea 43 bhc 16

Diseases related to benign hereditary chorea by text searches and GeneDecks gene sharing:

(show top 50)    (show all 81)

id	Related Disease	Score	Top Affiliating Genes
1	chorea	31.2	GEMIN2, NKX2-1, HTT, PAX9, PAX8, SGCE
2	familial hypothyroidism	29.7	NKX2-1, PAX8
3	hypothyroidism	29.6	NKX2-1, PAX8
4	myoclonus-dystonia	29.4	NKX2-1, SGCE
5	myoclonus	28.6	SGCE, HTT, NKX2-1
6	thyroid agenesis	12.8	PAX8, NKX2-1
7	thyroid cancer	12.8	PAX8, NKX2-1
8	anaplastic carcinoma	12.7	PAX8, NKX2-1
9	thyroid cancer, anaplastic	12.7	PAX8, NKX2-1
10	thyroid medullary carcinoma	12.7	PAX8, NKX2-1
11	follicular adenoma	12.7	NKX2-1, PAX8
12	congenital hypothyroidism	12.7	PAX8, NKX2-1
13	thyroid cancer, follicular	12.6	PAX8, NKX2-1
14	cerebellar hypoplasia	12.6	PAX8, NKX2-1
15	neuroendocrine tumor	12.6	NKX2-1, PAX8
16	nonencapsulated sclerosing carcinoma	12.6	PAX8, NKX2-1
17	papillary thyroid carcinoma	12.5	PAX8, NKX2-1
18	hirschsprung's disease	12.5	NKX2-1, GEMIN2
19	carcinoid syndrome	12.4	NKX2-1, PAX8
20	carcinoid tumors	12.4	PAX8, NKX2-1
21	goiter	12.1	PAX8, NKX2-1
22	movement disease	12.1	SGCE, HTT, NKX2-1
23	acanthocytosis	9.3
24	choreoacanthocytosis	8.5
25	sydenham's chorea	8.0
26	chorea minor	7.9
27	rheumatic chorea	7.8
28	chorea gravidarum	7.6
29	neuroacanthocytosis	7.6
30	neuronitis	7.0
31	short stature	7.0
32	thyroiditis	7.0
33	huntington's disease	7.0
34	levine-critchley syndrome	6.7
35	parkinson's disease	6.7
36	chorea, remitting with nystagmus and cataracts	6.7
37	chorea and dementia	6.7
38	chorea familial benign	6.3
39	mcleod syndrome	6.3
40	morvan's fibrillary chorea	6.3
41	curly hair-acral keratoderma-caries syndrome	5.8
42	dementia	5.8
43	saint vitus dance	5.8
44	behcet's syndrome arthropathy	5.8
45	behcet's disease	5.8
46	cardiomyopathy	4.9
47	myopathy	4.9
48	diabetes mellitus	4.9
49	neuroferritinopathy	4.9
50	dilated cardiomyopathy	4.9

Clinical features from OMIM: 118700

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to benign hereditary chorea:

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MGI Mouse Phenotypes related to benign hereditary chorea:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.9	HTT, PAX8, PAX9
2	skeleton phenotype	MP:0005390	8.6	NKX2-1, HTT, PAX9, PAX8
3	endocrine/exocrine gland phenotype	MP:0005379	8.5	PAX9, PAX8, HTT, NKX2-1
4	reproductive system phenotype	MP:0005389	8.4	NKX2-1, HTT, PAX9, PAX8
5	cardiovascular system phenotype	MP:0005385	8.1	NKX2-1, HTT, PAX8, SGCE
6	nervous system phenotype	MP:0003631	7.7	GEMIN2, NKX2-1, HTT, PAX8, SGCE
7	mortality/aging	MP:0010768	7.6	PAX8, PAX9, HTT, NKX2-1, GEMIN2

Articles related to benign hereditary chorea:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. (18788921)	Ferrara A.M.... Macchia P.E.	2008	PAX8, NKX2-1
2	Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. (18661567)	Glik A.... Inzelberg R.	2008	NKX2-1
3	Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. (17765926)	Provenzano C.... Civitareale D.	2008	NKX2-1
4	Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (17702043)	Asmus F.... Chinnery P.F.	2007	SGCE, NKX2-1
5	Benign hereditary chorea: clinical, neuroimaging, and genetic findings. (17940252)	Mahajnah M.... Straussberg R.	2007	NKX2-1
6	New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. (17044090)	Devos D.... Sablonniere B.	2006	PAX9, NKX2-1
7	Alterations of striatal neurons in benign hereditary chorea. (15986422)	Kleiner-Fisman G.... Lang A.E.	2005	NKX2-1
8	A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (15955952)	Asmus F.... Gasser T.	2005	NKX2-1
9	Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community (16028188)	PAcrez-PA^veda J.C.... Arcos-Burgos M.	2005	NKX2-1
10	Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. (16220345)	do Carmo Costa M.... Maciel P.	2005	NKX2-1
11	Mutations in TITF-1 are associated with benign hereditary chorea. (11971878)	Breedveld G.J.... Heutink P.	2002	NKX2-1
12	Benign hereditary chorea of early onset maps to chromosome 14q. (10631144)	de Vries B.B.... Heutink P.	2000	GEMIN2
13	Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. (8133497)	MacMillan J.C.... Snell R.G.	1993	HTT

Genes related to benign hereditary chorea according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	NKX2-1	NK2 homeobox 1	11.1	Summaries, Publications
2	PAX9	paired box 9	11.0	Publications
3	GEMIN2	gem (nuclear organelle) associated protein 2	11.0	Publications
4	PAX8	paired box 8	11.0	Publications
5	SGCE	sarcoglycan, epsilon	11.0	Publications
6	HTT	huntingtin	11.0	Publications

Compounds related to benign hereditary chorea according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	sodium iodide32	9.4	NKX2-1, PAX8
2	iodide32 18	10.3	PAX8, NKX2-1
3	oligonucleotide32	8.9	NKX2-1, HTT, PAX8
4	forskolin32 42 9 9	11.6	NKX2-1, HTT, PAX8

Biological processes related to benign hereditary chorea according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoderm development	GO:007492	9.6	PAX9, NKX2-1
2	thyroid gland development	GO:030878	9.3	PAX8, NKX2-1
3	locomotory behavior	GO:007626	9.2	HTT, NKX2-1
4	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.0	PAX8, PAX9, NKX2-1