CHOREA, BENIGN HEREDITARY

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
BCH
BHC
Number of Symptoms 8
OrphanetNr:
OMIM Id: 118700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001270) Motor delay 322 / 7739
2
(HPO:0002072) Chorea 53 / 7739
3
(HPO:0000726) Dementia 131 / 7739
4
(OMIM) Mildly decreased intelligence has been reported 1 / 7739
5
(OMIM) Movements are exacerbated by anxiety 1 / 7739
6
(OMIM) Dysarthria may occur 1 / 7739
7
(OMIM) Gait abnormalities may occur 1 / 7739
8
(OMIM) Severity of symptoms peak in the second decade and do not progress 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pincus and Chutorian (1967) and Haerer et al. (1967) described an early-onset, nonprogressive form of chorea not associated with intellectual deterioration.

Bird et al. (1976) pointed out that hereditary benign chorea is a socially embarrassing condition ...

Molecular genetics OMIM Breedveld et al. (2002) reported a small BHC family with a de novo deletion of 1.2 Mb, including the TITF1 gene (600635.0001). They also described 3 other multigenerational families with BHC who had heterozygous point mutations in the ...