DYT28
MCID: KMT002
MIFTS: 16

Kmt2b-Related Dystonia (DYT28)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kmt2b-Related Dystonia

MalaCards integrated aliases for Kmt2b-Related Dystonia:

Name: Kmt2b-Related Dystonia 24 52
Dyt-Kmt2b 24 52
Dyt28 24 52
Childhood-Onset Dystonia-28 52
Dystonia-28 52

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 alacrima, achalasia, and mental retardation syndrome and dystonia. An important gene associated with Kmt2b-Related Dystonia is KMT2B (Lysine Methyltransferase 2B). Affiliated tissues include brain and eye.

GeneReviews: NBK493766

Related Diseases for Kmt2b-Related Dystonia

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia Rare 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 alacrima, achalasia, and mental retardation syndrome 10.4
2 dystonia 10.4
3 attention deficit-hyperactivity disorder 10.2
4 obsessive-compulsive disorder 10.2
5 dystonia 28, childhood-onset 10.2
6 focal dystonia 10.2
7 sensorineural hearing loss 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:

40
Brain, Eye

Publications for Kmt2b-Related Dystonia

Articles related to Kmt2b-Related Dystonia:

(show all 30)
# Title Authors PMID Year
1
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. 24
29289525 2018
2
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. 24
28849312 2017
3
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia. 24
28921672 2017
4
KMT2B rare missense variants in generalized dystonia. 24
28520167 2017
5
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 24
27992417 2017
6
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. 24
27914146 2017
7
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 24
27839873 2016
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations. 24
26977859 2016
10
Deep Brain Stimulation during Pregnancy and Delivery: Experience from a Series of "DBS Babies". 24
26388833 2015
11
H3K4me3 breadth is linked to cell identity and transcriptional consistency. 24
25083876 2014
12
Pregnancy outcome following use of levodopa, pramipexole, ropinirole, and rotigotine for restless legs syndrome during pregnancy: a case series. 24
23083216 2013
13
Brain dopamine-serotonin vesicular transport disease and its treatment. 24
23363473 2013
14
Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice. 24
23426673 2013
15
Good obstetric outcome in a patient with Segawa disease. 24
22836471 2012
16
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 24
22515636 2012
17
Exposure to high dosage trihexyphenidyl during pregnancy for treatment of generalized dystonia: case report and literature review. 24
22045287 2011
18
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism. 24
21682904 2011
19
Uneventful use of haloperidol and trihehexyphenidyl during three consecutive pregnancies. 24
21116668 2011
20
Charting histone modifications and the functional organization of mammalian genomes. 24
21116306 2011
21
Methylation of H3K4 Is required for inheritance of active transcriptional states. 24
20188556 2010
22
Successful management of pregnancy in a patient with Segawa disease: case report and literature review. 24
19527400 2009
23
Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation. 24
18508253 2008
24
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 24
18243799 2008
25
High-resolution profiling of histone methylations in the human genome. 24
17512414 2007
26
Dynamic regulation of histone lysine methylation by demethylases. 24
17218267 2007
27
Update on KMT2B-Related Dystonia. 61
31768667 2019
28
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. 61
31216378 2019
29
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B. 61
31061210 2019
30
KMT2B-Related Dystonia 61
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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