Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDyskinesias (D020820)
..Starting node
..expandDystonia (D004421)

       Child Nodes:
........expandAmyotrophic Dystonic Paraplegia (C566292)
........expandDystonia 13, Torsion (C564354)
........expandDystonia with Cerebellar Atrophy (C567131)
........expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
........expandEpilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
........expandFamilial paroxysmal dystonia (C537180)
........expandGLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
........expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
........expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
........expandMarsden syndrome (C536024)
........expandMohr-Tranebjaerg syndrome (C535808)
........expandTorsion dystonia with onset in infancy (C536969)
........expandTorticollis (D014103) Child5



 Sister Nodes: 
..expandAtaxia (D001259) Child126
..expandAthetosis (D001264) Child3
..expandBobble-head doll syndrome (C536241)
..expandCatalepsy (D002375)
..expandChorea (D002819) Child17
..expandChoreoathetosis/Spasticity, Episodic (C563401)
..expandDyskinesia, Drug-Induced (D004409)
..expandDyskinesia, Familial, with Facial Myokymia (C564676)
..expandDystonia (D004421) Child18
..expandEpisodic Kinesigenic Dyskinesia 2 (C567026)
..expandHyperkinesis (D006948)
..expandHypokinesia (D018476) Child1
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental Retardation, X-Linked, Syndromic 10 (C564560)
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMIRROR MOVEMENTS 1 (OMIM:157600)
..expandMyoclonus (D009207) Child10
..expandParoxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412)
..expandPsychomotor Agitation (D011595) Child1
..expandSynkinesis (D046608) Child2
..expandTics (D020323)
..expandTremor (D014202) Child6
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3555
Name:Dystonia
Definition:An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Alternative IDs:OMIM:612067
ParentIDs:MESH:D020820
TreeNumbers:C10.597.350.300 |C23.888.592.350.300
Synonyms:Diurnal Dystonia |DYSTONIA 16 |Dystonia, Diurnal |Dystonia, Limb |Dystonia, Muscle |Dystonia, Paroxysmal |DYT16 |Limb Dystonia |Muscle Dystonia |Paroxysmal Dystonia
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: D004421
MeSH: D004421
OMIM: 612067;

Genes: PRKRA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal sign
3 HP:0002067Bradykinesia
4 HP:0100543Cognitive impairmentHP:0040283
5 HP:0000750Delayed speech and language development
6 HP:0001260Dysarthria
7 HP:0002015Dysphagia
8 HP:0001618Dysphonia
9 HP:0001288Gait disturbance
10 HP:0001347Hyperreflexia
11 HP:0004305Involuntary movements
12 HP:0012049Laryngeal dystonia
13 HP:0002451Limb dystonia
14 HP:0009763Limb pain
15 HP:0012514Lower limb pain
16 HP:0002062Morphological abnormality of the pyramidal tract
17 HP:0001270Motor delay
18 HP:0001300Parkinsonism
19 HP:0002174Postural tremor
20 HP:0003676Progressive
21 HP:0002544Retrocollis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003690.4(PRKRA):c.665C>T (p.Pro222Leu)-1-Pathogenic121434410RCV000006718; NMedGen:C2677567,OMIM:612067,ORPHA:2105712179300991179300991NM_003690.4:c.665C>TNP_003681.1:p.Pro222LeuNC_000002.11:g.179300991G>AOMIM Allelic Variant:603424.0001C2677567 612067 Dystonia 16
NM_003690.4(PRKRA):c.267_268delTA (p.His89Glnfs)8575PRKRAPathogenic730880307RCV000006719; NMedGen:C2677567,OMIM:612067,ORPHA:2105712179312281179312282NM_003690.4:c.267_268delTANP_003681.1:p.His89GlnfsNC_000002.11:g.179312281_179312282delTAOMIM Allelic Variant:603424.0002C2677567 612067 Dystonia 16