MCID: KMT002
MIFTS: 13

Kmt2b-Related Dystonia

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 25 54
Dyt-Kmt2b 25 54
Dyt28 25 54
Childhood-Onset Dystonia-28 54
Dystonia-28 54

Characteristics:

GeneReviews:

25
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 dystonia 28, childhood-onset and dystonia 12. Affiliated tissues include 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

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

# Related Disease Score Top Affiliating Genes
1 dystonia 28, childhood-onset 12.1
2 dystonia 12 10.1
3 dystonia 10.1
4 spasmodic dystonia 10.1
5 spasmodic dysphonia 10.1

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:

42
Eye

Publications for Kmt2b-Related Dystonia

Articles related to Kmt2b-Related Dystonia:

# Title Authors Year
1
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B. ( 31061210 )
2019

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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