Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Muscle diseases, Ear diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Dystonia-12:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Blood diseases, Muscle diseases, Ear diseases
ICD10: 30 29
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
MalaCards based summary: Dystonia-12, also known as dystonia 12, is related to early-onset generalized dystonia and dystonia-1, torsion, and has symptoms including tremor nec in icd9cm_2014, dystonia, limb and dystonia, diurnal. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways is AMPK Enzyme Complex Pathway. The drugs botulinum toxin type b and botulinum toxin type a have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related mouse phenotypes are muscle and behavior/neurological.
Disease Ontology:11 A dystonia that affects most or all of the body.
Genetics Home Reference:25 Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.
OMIM:51 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt... (128235) more...
Human phenotypes related to Dystonia-12:63 (show all 13)
UMLS symptoms related to Dystonia-12:tremor nec in icd9cm_2014, dystonia, limb, dystonia, diurnal, dystonia, paroxysmal, spasmodic torticollis, torticollis, myoclonus, dystonia, back pain, headache, muscle cramp, pain, sciatica, seizures, spasm, syncope, tremor, chronic pain, opisthotonus, adiadochokinesis, oropharyngeal spasm, neonatal dyskinesia, vertigo/dizziness, neck cramps, involuntary dystonic movements, sleeplessness, drooling, bradykinesia
Drugs for Dystonia-12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 151)
Interventional clinical trials:(show top 50) (show all 266)
Search NIH Clinical Center for Dystonia-12
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Dystonia-12:35
Brain, Cerebellum, Cortex, Testes, Spinal cord
MGI Mouse Phenotypes related to Dystonia-12:40
UniProtKB/Swiss-Prot genetic disease variations for Dystonia-12:69
Clinvar genetic disease variations for Dystonia-12:5 (show all 21)
Search GEO for disease gene expression data for Dystonia-12.
Biological processes related to Dystonia-12 according to GeneCards Suite gene sharing:
Molecular functions related to Dystonia-12 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet