DYT26
MCID: DYS175
MIFTS: 22

Dystonia 26, Myoclonic (DYT26)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 26, Myoclonic

MalaCards integrated aliases for Dystonia 26, Myoclonic:

Name: Dystonia 26, Myoclonic 57 72 29 6
Dyt26 57 72
Myoclonic Dystonia 26 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
dystonia 26, myoclonic:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Dystonia 26, Myoclonic

UniProtKB/Swiss-Prot : 72 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 anxiety and depressivity

Disease Ontology : 12 A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has material basis in autosomal dominant inheritance of 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) (Updated 05-Apr-2021)

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

Human phenotypes related to Dystonia 26, Myoclonic:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 anxiety 31 occasional (7.5%) HP:0000739
2 depressivity 31 HP:0000716
3 dysarthria 31 HP:0001260
4 myoclonus 31 HP:0001336
5 blepharospasm 31 HP:0000643
6 torticollis 31 HP:0000473
7 laryngeal dystonia 31 HP:0012049

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Articles related to Dystonia 26, Myoclonic:

# Title Authors PMID Year
1
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 6 57
25983243 2015

Variations for Dystonia 26, Myoclonic

ClinVar genetic disease variations for Dystonia 26, Myoclonic:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCTD17 NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) SNV Pathogenic 191372 rs786205860 GRCh37: 22:37453460-37453460
GRCh38: 22:37057420-37057420
2 KCTD17 NM_001282684.1(KCTD17):c.62C>T (p.Ala21Val) SNV Uncertain significance 843510 GRCh37: 22:37447841-37447841
GRCh38: 22:37051801-37051801
3 KCTD17 NM_001282684.1(KCTD17):c.806G>A (p.Gly269Asp) SNV Uncertain significance 846140 GRCh37: 22:37457579-37457579
GRCh38: 22:37061539-37061539
4 KCTD17 NM_001282684.1(KCTD17):c.543C>T (p.Ser181=) SNV Uncertain significance 1022760 GRCh37: 22:37455388-37455388
GRCh38: 22:37059348-37059348
5 KCTD17 NM_024681.3(KCTD17):c.26G>C (p.Arg9Thr) SNV Uncertain significance 1027881 GRCh37: 22:37447805-37447805
GRCh38: 22:37051765-37051765
6 KCTD17 NM_001282684.1(KCTD17):c.590G>C (p.Ser197Thr) SNV Uncertain significance 542656 rs144682183 GRCh37: 22:37455435-37455435
GRCh38: 22:37059395-37059395
7 KCTD17 NM_001282684.1(KCTD17):c.874C>T (p.Arg292Cys) SNV Uncertain significance 571150 rs199921196 GRCh37: 22:37457647-37457647
GRCh38: 22:37061607-37061607
8 KCTD17 NM_001282684.1(KCTD17):c.320G>C (p.Gly107Ala) SNV Uncertain significance 640218 rs750023360 GRCh37: 22:37452360-37452360
GRCh38: 22:37056320-37056320
9 KCTD17 NM_001282684.1(KCTD17):c.550C>A (p.Gln184Lys) SNV Uncertain significance 645834 rs1601495318 GRCh37: 22:37455395-37455395
GRCh38: 22:37059355-37059355
10 KCTD17 NM_001282684.1(KCTD17):c.863G>A (p.Arg288Gln) SNV Uncertain significance 652459 rs770794932 GRCh37: 22:37457636-37457636
GRCh38: 22:37061596-37061596
11 KCTD17 NM_001282684.1(KCTD17):c.507+5G>A SNV Uncertain significance 654507 rs201383375 GRCh37: 22:37453538-37453538
GRCh38: 22:37057498-37057498
12 KCTD17 NM_001282684.1(KCTD17):c.632A>C (p.Lys211Thr) SNV Uncertain significance 655603 rs1601495664 GRCh37: 22:37455477-37455477
GRCh38: 22:37059437-37059437
13 KCTD17 NM_001282684.1(KCTD17):c.709G>T (p.Val237Leu) SNV Uncertain significance 661812 rs1258843342 GRCh37: 22:37456938-37456938
GRCh38: 22:37060898-37060898
14 KCTD17 NM_001282684.1(KCTD17):c.556G>A (p.Glu186Lys) SNV Uncertain significance 665524 rs6000546 GRCh37: 22:37455401-37455401
GRCh38: 22:37059361-37059361
15 KCTD17 NM_001282684.1(KCTD17):c.411+6G>A SNV Likely benign 542657 rs149432408 GRCh37: 22:37452457-37452457
GRCh38: 22:37056417-37056417
16 KCTD17 NM_001282684.1(KCTD17):c.937C>G (p.His313Asp) SNV Likely benign 569014 rs146711968 GRCh37: 22:37458605-37458605
GRCh38: 22:37062565-37062565
17 KCTD17 NM_001282684.1(KCTD17):c.120G>A (p.Thr40=) SNV Benign 694415 rs747826376 GRCh37: 22:37447899-37447899
GRCh38: 22:37051859-37051859
18 KCTD17 NM_001282684.1(KCTD17):c.812G>A (p.Arg271His) SNV Benign 703874 rs146127576 GRCh37: 22:37457585-37457585
GRCh38: 22:37061545-37061545
19 KCTD17 NM_001282684.1(KCTD17):c.319+9G>C SNV Benign 706655 rs374499572 GRCh37: 22:37449257-37449257
GRCh38: 22:37053217-37053217
20 KCTD17 NM_001282684.1(KCTD17):c.918C>T (p.Pro306=) SNV Benign 476040 rs116956945 GRCh37: 22:37458586-37458586
GRCh38: 22:37062546-37062546

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

72
# Symbol AA change Variation ID SNP ID
1 KCTD17 p.Arg145His VAR_073806 rs786205860

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

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