DYT28
MCID: KMT002
MIFTS: 13

Kmt2b-Related Dystonia (DYT28)

Categories: Rare diseases

Aliases & Classifications for Kmt2b-Related Dystonia

MalaCards integrated aliases for Kmt2b-Related Dystonia:

Name: Kmt2b-Related Dystonia 24 53
Dyt-Kmt2b 24 53
Dyt28 24 53
Childhood-Onset Dystonia-28 53
Dystonia-28 53

Characteristics:

GeneReviews:

24
Penetrance Dyt-kmt2b is postulated to show reduced penetrance as asymptomatic heterozygotes have been identified. although parental status is not always known, to date two (6%) of 32 reported pathogenic variants have been inherited from a seemingly unaffected parent [meyer et al 2017]....

Classifications:



Summaries for Kmt2b-Related Dystonia

MalaCards based summary : Kmt2b-Related Dystonia, also known as dyt-kmt2b, is related to attention deficit-hyperactivity disorder and obsessive-compulsive disorder. An important gene associated with Kmt2b-Related Dystonia is KMT2B (Lysine Methyltransferase 2B). Affiliated tissues include brain.

GeneReviews: NBK493766

Related Diseases for Kmt2b-Related Dystonia

Diseases related to Kmt2b-Related Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.2
2 obsessive-compulsive disorder 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 dystonia 28, childhood-onset 10.2
5 focal dystonia 10.2
6 sensorineural hearing loss 10.2
7 dystonia 10.2
8 myoclonus 10.2
9 spasticity 10.2
10 spasmodic dystonia 10.2
11 spasmodic dysphonia 10.2

Graphical network of the top 20 diseases related to Kmt2b-Related Dystonia:



Diseases related to Kmt2b-Related Dystonia

Symptoms & Phenotypes for Kmt2b-Related Dystonia

Drugs & Therapeutics for Kmt2b-Related Dystonia

Search Clinical Trials , NIH Clinical Center for Kmt2b-Related Dystonia

Genetic Tests for Kmt2b-Related Dystonia

Anatomical Context for Kmt2b-Related Dystonia

MalaCards organs/tissues related to Kmt2b-Related Dystonia:

41
Brain

Publications for Kmt2b-Related Dystonia

Articles related to Kmt2b-Related Dystonia:

(show all 29)
# Title Authors PMID Year
1
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. 4
29289525 2018
2
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. 4
28849312 2017
3
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia. 4
28921672 2017
4
KMT2B rare missense variants in generalized dystonia. 4
28520167 2017
5
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 4
27992417 2017
6
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. 4
27914146 2017
7
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 4
27839873 2016
8
Timing, rates and spectra of human germline mutation. 4
26656846 2016
9
Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations. 4
26977859 2016
10
Deep Brain Stimulation during Pregnancy and Delivery: Experience from a Series of "DBS Babies". 4
26388833 2015
11
H3K4me3 breadth is linked to cell identity and transcriptional consistency. 4
25083876 2014
12
Pregnancy outcome following use of levodopa, pramipexole, ropinirole, and rotigotine for restless legs syndrome during pregnancy: a case series. 4
23083216 2013
13
Brain dopamine-serotonin vesicular transport disease and its treatment. 4
23363473 2013
14
Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice. 4
23426673 2013
15
Good obstetric outcome in a patient with Segawa disease. 4
22836471 2012
16
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 4
22515636 2012
17
Exposure to high dosage trihexyphenidyl during pregnancy for treatment of generalized dystonia: case report and literature review. 4
22045287 2011
18
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism. 4
21682904 2011
19
Uneventful use of haloperidol and trihehexyphenidyl during three consecutive pregnancies. 4
21116668 2011
20
Charting histone modifications and the functional organization of mammalian genomes. 4
21116306 2011
21
Methylation of H3K4 Is required for inheritance of active transcriptional states. 4
20188556 2010
22
Successful management of pregnancy in a patient with Segawa disease: case report and literature review. 4
19527400 2009
23
Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation. 4
18508253 2008
24
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 4
18243799 2008
25
High-resolution profiling of histone methylations in the human genome. 4
17512414 2007
26
Dynamic regulation of histone lysine methylation by demethylases. 4
17218267 2007
27
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. 38
31216378 2019
28
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B. 38
31061210 2019
29
KMT2B-Related Dystonia 38
29697234 2018

Variations for Kmt2b-Related Dystonia

Expression for Kmt2b-Related Dystonia

Search GEO for disease gene expression data for Kmt2b-Related Dystonia.

Pathways for Kmt2b-Related Dystonia

GO Terms for Kmt2b-Related Dystonia

Sources for Kmt2b-Related Dystonia

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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