MCID: DYS190
MIFTS: 18

Dystonia 28, Childhood-Onset

Categories: Genetic diseases

Aliases & Classifications for Dystonia 28, Childhood-Onset

MalaCards integrated aliases for Dystonia 28, Childhood-Onset:

Name: Dystonia 28, Childhood-Onset 57 75 29 6
Dyt28 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
incomplete penetrance
onset in first decade
most mutations occur de novo
onset usually in lower limbs or feet
favorable response to deep brain stimulation


HPO:

32
dystonia 28, childhood-onset:
Onset and clinical course incomplete penetrance progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dystonia 28, Childhood-Onset

OMIM : 57 Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017). (617284)

MalaCards based summary : Dystonia 28, Childhood-Onset, also known as dyt28, is related to kmt2b-related dystonia. An important gene associated with Dystonia 28, Childhood-Onset is KMT2B (Lysine Methyltransferase 2B). Affiliated tissues include eye and brain, and related phenotypes are microcephaly and bulbous nose

UniProtKB/Swiss-Prot : 75 Dystonia 28, childhood-onset: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.

Related Diseases for Dystonia 28, Childhood-Onset

Diseases related to Dystonia 28, Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kmt2b-related dystonia 10.9

Symptoms & Phenotypes for Dystonia 28, Childhood-Onset

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
toe walking
spasticity (in some patients)
gait difficulties
cognitive impairment (in some patients)
more
Head And Neck Mouth:
oromandibular dystonia

Respiratory Larynx:
laryngeal dystonia

Head And Neck Face:
facial dystonia
elongated face

Head And Neck Head:
microcephaly (in some patients)

Growth Other:
poor overall growth (in some patients)

Skeletal Feet:
foot dystonia
abnormal foot posturing

Voice:
dysphonia

Head And Neck Neck:
torticollis
retrocollis
neck dystonia

Head And Neck Nose:
bulbous nasal tip

Growth Height:
short stature (in some patients)

Head And Neck Eyes:
astigmatism (in some patients)
eye movement abnormalities (in some patients)

Abdomen Gastrointestinal:
difficulties chewing
difficulties swallowing


Clinical features from OMIM:

617284

Human phenotypes related to Dystonia 28, Childhood-Onset:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 bulbous nose 32 HP:0000414
3 astigmatism 32 occasional (7.5%) HP:0000483
4 abnormality of eye movement 32 occasional (7.5%) HP:0000496
5 spasticity 32 occasional (7.5%) HP:0001257
6 dysarthria 32 HP:0001260
7 global developmental delay 32 occasional (7.5%) HP:0001263
8 motor delay 32 occasional (7.5%) HP:0001270
9 myoclonus 32 occasional (7.5%) HP:0001336
10 retrocollis 32 HP:0002544
11 short stature 32 occasional (7.5%) HP:0004322
12 oromandibular dystonia 32 HP:0012048
13 laryngeal dystonia 32 HP:0012049
14 toe walking 32 HP:0040083
15 cognitive impairment 32 occasional (7.5%) HP:0100543

Drugs & Therapeutics for Dystonia 28, Childhood-Onset

Search Clinical Trials , NIH Clinical Center for Dystonia 28, Childhood-Onset

Genetic Tests for Dystonia 28, Childhood-Onset

Genetic tests related to Dystonia 28, Childhood-Onset:

# Genetic test Affiliating Genes
1 Dystonia 28, Childhood-Onset 29 KMT2B

Anatomical Context for Dystonia 28, Childhood-Onset

MalaCards organs/tissues related to Dystonia 28, Childhood-Onset:

41
Eye, Brain

Publications for Dystonia 28, Childhood-Onset

Variations for Dystonia 28, Childhood-Onset

ClinVar genetic disease variations for Dystonia 28, Childhood-Onset:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2B NM_014727.2(KMT2B): c.6406delC (p.Leu2136Serfs) deletion Pathogenic rs1057519278 GRCh38 Chromosome 19, 35732955: 35732955
2 KMT2B NM_014727.2(KMT2B): c.6406delC (p.Leu2136Serfs) deletion Pathogenic rs1057519278 GRCh37 Chromosome 19, 36223856: 36223856
3 KMT2B NM_014727.2(KMT2B): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs1057519279 GRCh38 Chromosome 19, 35720980: 35720980
4 KMT2B NM_014727.2(KMT2B): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs1057519279 GRCh37 Chromosome 19, 36211882: 36211882
5 KMT2B NM_014727.2(KMT2B): c.7050-2A> G single nucleotide variant Pathogenic rs1057519280 GRCh37 Chromosome 19, 36224662: 36224662
6 KMT2B NM_014727.2(KMT2B): c.7050-2A> G single nucleotide variant Pathogenic rs1057519280 GRCh38 Chromosome 19, 35733761: 35733761
7 KMT2B NM_014727.2(KMT2B): c.2428C> T (p.Gln810Ter) single nucleotide variant Pathogenic rs1057519281 GRCh38 Chromosome 19, 35721775: 35721775
8 KMT2B NM_014727.2(KMT2B): c.2428C> T (p.Gln810Ter) single nucleotide variant Pathogenic rs1057519281 GRCh37 Chromosome 19, 36212677: 36212677
9 KMT2B NM_014727.2(KMT2B): c.402dupC (p.Ser135Glnfs) duplication Pathogenic rs1057519282 GRCh38 Chromosome 19, 35719507: 35719507
10 KMT2B NM_014727.2(KMT2B): c.402dupC (p.Ser135Glnfs) duplication Pathogenic rs1057519282 GRCh37 Chromosome 19, 36210409: 36210409
11 KMT2B NM_014727.2(KMT2B): c.1690C> T (p.Arg564Ter) single nucleotide variant Pathogenic rs1057519283 GRCh37 Chromosome 19, 36211939: 36211939
12 KMT2B NM_014727.2(KMT2B): c.1690C> T (p.Arg564Ter) single nucleotide variant Pathogenic rs1057519283 GRCh38 Chromosome 19, 35721037: 35721037
13 KMT2B NM_014727.2(KMT2B): c.4545C> A (p.Tyr1515Ter) single nucleotide variant Pathogenic rs1057519284 GRCh37 Chromosome 19, 36219046: 36219046
14 KMT2B NM_014727.2(KMT2B): c.4545C> A (p.Tyr1515Ter) single nucleotide variant Pathogenic rs1057519284 GRCh38 Chromosome 19, 35728145: 35728145
15 KMT2B NM_014727.2(KMT2B): c.7549C> T (p.Arg2517Trp) single nucleotide variant Pathogenic rs1057519285 GRCh37 Chromosome 19, 36228163: 36228163
16 KMT2B NM_014727.2(KMT2B): c.7549C> T (p.Arg2517Trp) single nucleotide variant Pathogenic rs1057519285 GRCh38 Chromosome 19, 35737262: 35737262
17 KMT2B NM_014727.2(KMT2B): c.514_515insC (p.Thr176Aspfs) insertion Pathogenic rs763183959 GRCh37 Chromosome 19, 36210764: 36210764
18 KMT2B NM_014727.2(KMT2B): c.514_515insC (p.Thr176Aspfs) insertion Pathogenic rs763183959 GRCh38 Chromosome 19, 35719861: 35719862
19 KMT2B NM_014727.1(KMT2B): c.4931G> T (p.Cys1644Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 35729980: 35729980
20 KMT2B NM_014727.1(KMT2B): c.4931G> T (p.Cys1644Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 36220881: 36220881

Expression for Dystonia 28, Childhood-Onset

Search GEO for disease gene expression data for Dystonia 28, Childhood-Onset.

Pathways for Dystonia 28, Childhood-Onset

GO Terms for Dystonia 28, Childhood-Onset

Sources for Dystonia 28, Childhood-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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49 NCI
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51 NDF-RT
54 NINDS
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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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