MCID: CHR423
MIFTS: 34

Chorea, Hereditary Benign malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Chorea, Hereditary Benign

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 65UMLS, 47Novoseek, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 49 11 67
Benign Hereditary Chorea 45 22 65
Hereditary Benign Chorea 51 24
Benign Familial Chorea 51 24
Bhc 22 67
 
Hereditary Chorea Without Dementia 67
Chorea Benign Hereditary 47
Chorea, Benign Familial 65
Chorea Familial Benign 45

Characteristics:

HPO:

61
Inheritance: autosomal recessive inheritance
chorea, hereditary benign:
Onset and clinical course: phenotypic variability, juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118700
Orphanet51 1429
ICD10 via Orphanet28 G25.5
UMLS via Orphanet66 C0393584
MedGen34 C0393584
MeSH36 D002819
UMLS65 C0393584, C1859098

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:45 Benign hereditary chorea (bhc) is a rare movement disorder that begins in infancy or childhood. signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. the chorea often improves with time. in some cases, myoclonus persists or worsens. children with bhc can have normal intellect, but may have learning and behavior problems. other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). treatment is tailored to each child. tetrabenazine and levodopa have been tried in individual cases with some success. bhc is caused by mutations in the nkx2-1 gene (also known as the titf1 gene). it is passed through families in an autosomal dominant fashion. last updated: 8/7/2014

MalaCards based summary: Chorea, Hereditary Benign, also known as benign hereditary chorea, is related to choreoathetosis, hypothyroidism, and neonatal respiratory distress and breast cancer, and has symptoms including gait disturbance, chorea and gait disturbance. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 Homeobox 1), and among its related pathways are Diseases of metabolism and RNA Polymerase I Promoter Escape. Affiliated tissues include thyroid and lung.

UniProtKB/Swiss-Prot:67 Chorea, hereditary benign: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

Description from OMIM:49 118700

Related Diseases for Chorea, Hereditary Benign

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Diseases related to Chorea, Hereditary Benign via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1choreoathetosis, hypothyroidism, and neonatal respiratory distress29.5ADCY5, NKX2-1, NMTC1, TTF1
2breast cancer10.3
3pleuropneumonia10.3
4pancreatitis10.3
5colorectal cancer10.2
6schizophrenia10.1
7systemic lupus erythematosus10.1
8parathyroid carcinoma10.1
9fibrodysplasia ossificans progressiva10.1
10alagille syndrome10.1
11brain injury10.1
12bronchopulmonary dysplasia10.1
13myelofibrosis10.1
14thrombocytopenia10.1
15traumatic brain injury10.1
16sarcoma10.1
17pulmonary edema10.1
18penile cancer10.1
19limb-girdle muscular dystrophy10.1
20hypercalcemia10.1
21gynecomastia10.1
22urticaria10.1
23hyperuricemia10.1
24transient cerebral ischemia10.1
25ovarian cancer10.1
26adenocarcinoma10.1
27ischemia10.1
28thymoma10.1
29cerebritis10.1
30lactic acidosis10.1
31pseudohermaphroditism10.1
32tuberculosis10.1
33colorado tick fever10.1
34adenocarcinoma in situ10.1
35endocervicitis10.1
36lupus erythematosus10.1
37psoriasis10.1
38venezuelan equine encephalitis10.1
39encephalitis10.1
40miliary tuberculosis10.1
41muscular dystrophy10.1
42toxoplasmosis10.1
43acute febrile neutrophilic dermatosis10.1
44hypereosinophilic syndrome10.1
45congenital smooth muscle hamartoma10.1
46argyria10.1
47solar urticaria10.1
48chronic respiratory distress with surfactant metabolism deficiency9.8NKX2-1, TTF1
49pycr1-related cutis laxa9.8NKX2-1, TTF1
50hypochondriasis9.7ADCY5, NKX2-1

Graphical network of the top 20 diseases related to Chorea, Hereditary Benign:



Diseases related to chorea, hereditary benign

Symptoms for Chorea, Hereditary Benign

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Symptoms by clinical synopsis from OMIM:

118700

Clinical features from OMIM:

118700

Symptoms:

 51
  • abnormal gait
  • movement disorder

HPO human phenotypes related to Chorea, Hereditary Benign:

(show all 6)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 chorea HP:0002072
3 gait disturbance HP:0001288
4 motor delay HP:0001270
5 dysarthria HP:0001260
6 anxiety HP:0000739

Drugs & Therapeutics for Chorea, Hereditary Benign

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chorea, Hereditary Benign

Genetic Tests for Chorea, Hereditary Benign

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Genetic tests related to Chorea, Hereditary Benign:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea22 NKX2-1

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

33
Thyroid, Lung

Animal Models for Chorea, Hereditary Benign or affiliated genes

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Publications for Chorea, Hereditary Benign

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Variations for Chorea, Hereditary Benign

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UniProtKB/Swiss-Prot genetic disease variations for Chorea, Hereditary Benign:

67
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671
3NKX2-1p.Gln172HisVAR_075209
4NKX2-1p.Trp208SerVAR_075210

Clinvar genetic disease variations for Chorea, Hereditary Benign:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000014.8deletionPathogenicGRCh37Chr 14, 36407609: 37670256
2NKX2-1NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser)single nucleotide variantPathogenicrs28936671GRCh37Chr 14, 36986962: 36986962
3NKX2-1NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu)single nucleotide variantPathogenicrs28936672GRCh37Chr 14, 36986976: 36986976
4NKX2-1NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs)deletionPathogenicrs387906404GRCh37Chr 14, 36986781: 36986781
5NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Tsingle nucleotide variantPathogenicrs587776708GRCh37Chr 14, 36987227: 36987227
6NKX2-1NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs137852694GRCh37Chr 14, 36986944: 36986944

Expression for genes affiliated with Chorea, Hereditary Benign

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Search GEO for disease gene expression data for Chorea, Hereditary Benign.

Pathways for genes affiliated with Chorea, Hereditary Benign

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GO Terms for genes affiliated with Chorea, Hereditary Benign

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Sources for Chorea, Hereditary Benign

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet