Chorea, Hereditary Benign malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Chorea, Hereditary Benign:
Orphanet epidemiological data:53
hereditary benign chorea:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
Rare neurological diseases
NIH Rare Diseases:47 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 sydenham chorea, and has symptoms including gait disturbance, anxiety and dysarthria. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid and lung, and related mouse phenotype behavior/neurological.
UniProtKB/Swiss-Prot:69 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.
Wikipedia:70 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...
Description from OMIM:51 118700
Diseases related to Chorea, Hereditary Benign via text searches within MalaCards or GeneCards Suite gene sharing:(show all 21)
Graphical network of the top 20 diseases related to Chorea, Hereditary Benign:
Human phenotypes related to Chorea, Hereditary Benign:63 53 (show all 6)
UMLS symptoms related to Chorea, Hereditary Benign:rapid onset of sudden, jerky involuntary movements, head movements abnormal, oral choreiform movement, involuntary movements, synkinesis, other symptoms involving nervous and musculoskeletal systems, hypokinesia, tremor, spasm, myoclonus, muscular fasciculation, dystonia, clonus, athetosis, ataxia
MalaCards organs/tissues related to Chorea, Hereditary Benign:35
UniProtKB/Swiss-Prot genetic disease variations for Chorea, Hereditary Benign:69
Clinvar genetic disease variations for Chorea, Hereditary Benign:5
Search GEO for disease gene expression data for Chorea, Hereditary Benign.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet