MCID: DYS175
MIFTS: 18

Dystonia 26, Myoclonic

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 26, Myoclonic

MalaCards integrated aliases for Dystonia 26, Myoclonic:

Name: Dystonia 26, Myoclonic 57 75 29 6
Dyt26 57 75
Myoclonic Dystonia 26 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in first or second decades
myoclonus is presenting symptom
dystonia occurs later
symptoms are not relieved by alcohol
two unrelated families of european descent have been reported (last curated may 2015)


HPO:

32
dystonia 26, myoclonic:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dystonia 26, Myoclonic

UniProtKB/Swiss-Prot : 75 Dystonia 26, myoclonic: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs.

MalaCards based summary : Dystonia 26, Myoclonic, is also known as dyt26. An important gene associated with Dystonia 26, Myoclonic is KCTD17 (Potassium Channel Tetramerization Domain Containing 17). Related phenotypes are depressivity and dysarthria

Disease Ontology : 12 A myoclonic dystonia characterized by autosomal dominant inheritance of myoclonic jerks affecting the upper limbs with onset in the first or second decade of life and progressive development that has material basis in heterozygous mutation in the KCTD17 gene on chromosome 22q12.

OMIM : 57 Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015). (616398)

Related Diseases for Dystonia 26, Myoclonic

Diseases in the Dystonia 11, Myoclonic family:

Dystonia 15, Myoclonic Dystonia 26, Myoclonic

Symptoms & Phenotypes for Dystonia 26, Myoclonic

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
myoclonus
laryngeal dystonia
dystonia predominantly of the upper limbs and craniocervical regions
truncal dystonia (in some patients)
more
Head And Neck Eyes:
blepharospasm

Head And Neck Head:
head jerks

Head And Neck Face:
facial myoclonus

Voice:
dysphonia

Head And Neck Neck:
torticollis

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in some patients)
depression (in some patients)
psychiatric symptoms (in some patients)


Clinical features from OMIM:

616398

Human phenotypes related to Dystonia 26, Myoclonic:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 dysarthria 32 HP:0001260
3 myoclonus 32 HP:0001336
4 anxiety 32 occasional (7.5%) HP:0000739
5 blepharospasm 32 HP:0000643
6 torticollis 32 HP:0000473
7 laryngeal dystonia 32 HP:0012049

Drugs & Therapeutics for Dystonia 26, Myoclonic

Search Clinical Trials , NIH Clinical Center for Dystonia 26, Myoclonic

Genetic Tests for Dystonia 26, Myoclonic

Genetic tests related to Dystonia 26, Myoclonic:

# Genetic test Affiliating Genes
1 Dystonia 26, Myoclonic 29 KCTD17

Anatomical Context for Dystonia 26, Myoclonic

Publications for Dystonia 26, Myoclonic

Variations for Dystonia 26, Myoclonic

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 26, Myoclonic:

75
# Symbol AA change Variation ID SNP ID
1 KCTD17 p.Arg145His VAR_073806 rs786205860

ClinVar genetic disease variations for Dystonia 26, Myoclonic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCTD17 NM_001282684.1(KCTD17): c.434G> A (p.Arg145His) single nucleotide variant Pathogenic rs786205860 GRCh37 Chromosome 22, 37453460: 37453460
2 KCTD17 NM_001282684.1(KCTD17): c.434G> A (p.Arg145His) single nucleotide variant Pathogenic rs786205860 GRCh38 Chromosome 22, 37057420: 37057420
3 KCTD17 NM_001282684.1(KCTD17): c.918C> T (p.Pro306=) single nucleotide variant Benign rs116956945 GRCh37 Chromosome 22, 37458586: 37458586
4 KCTD17 NM_001282684.1(KCTD17): c.918C> T (p.Pro306=) single nucleotide variant Benign rs116956945 GRCh38 Chromosome 22, 37062546: 37062546
5 KCTD17 NM_001282684.1(KCTD17): c.411+6G> A single nucleotide variant Uncertain significance rs149432408 GRCh38 Chromosome 22, 37056417: 37056417
6 KCTD17 NM_001282684.1(KCTD17): c.411+6G> A single nucleotide variant Uncertain significance rs149432408 GRCh37 Chromosome 22, 37452457: 37452457
7 KCTD17 NM_001282684.1(KCTD17): c.590G> C (p.Ser197Thr) single nucleotide variant Uncertain significance rs144682183 GRCh37 Chromosome 22, 37455435: 37455435
8 KCTD17 NM_001282684.1(KCTD17): c.590G> C (p.Ser197Thr) single nucleotide variant Uncertain significance rs144682183 GRCh38 Chromosome 22, 37059395: 37059395

Expression for Dystonia 26, Myoclonic

Search GEO for disease gene expression data for Dystonia 26, Myoclonic.

Pathways for Dystonia 26, Myoclonic

GO Terms for Dystonia 26, Myoclonic

Sources for Dystonia 26, Myoclonic

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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32 HPO
33 ICD10
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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