MCID: DYS172
MIFTS: 20

Dystonia 27

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

Aliases & Classifications for Dystonia 27

MalaCards integrated aliases for Dystonia 27:

Name: Dystonia 27 57 12 75 29 6
Dyt27 57 75
Primary Dystonia, Dyt27 Type 59
Dystonia, Type 27 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first or second decade


HPO:

32
dystonia 27:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616411
Disease Ontology 12 DOID:0090050
ICD10 33 G24.1
Orphanet 59 ORPHA464440
ICD10 via Orphanet 34 G24.1
MeSH 44 D004421

Summaries for Dystonia 27

Disease Ontology : 12 A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has material basis in compound heterozygous mutation in the COL6A3 gene on chromosome 2q37.

MalaCards based summary : Dystonia 27, also known as dyt27, is related to dystonia. An important gene associated with Dystonia 27 is COL6A3 (Collagen Type VI Alpha 3 Chain). Related phenotypes are postural tremor and writer's cramp

OMIM : 57 Dystonia-27 is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015). (616411)

UniProtKB/Swiss-Prot : 75 Dystonia 27: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs.

Related Diseases for Dystonia 27

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 Dystonia 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 10.0

Symptoms & Phenotypes for Dystonia 27

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
oromandibular dystonia

Neurologic Central Nervous System:
dystonia, isolated, segmental
craniocervical predominance
upper limb involvement
writer's cramp
postural tremor
more
Respiratory Larynx:
laryngeal dystonia


Clinical features from OMIM:

616411

Human phenotypes related to Dystonia 27:

32
# Description HPO Frequency HPO Source Accession
1 postural tremor 32 HP:0002174
2 writer's cramp 32 HP:0002356
3 oromandibular dystonia 32 HP:0012048
4 laryngeal dystonia 32 HP:0012049

Drugs & Therapeutics for Dystonia 27

Search Clinical Trials , NIH Clinical Center for Dystonia 27

Genetic Tests for Dystonia 27

Genetic tests related to Dystonia 27:

# Genetic test Affiliating Genes
1 Dystonia 27 29 COL6A3

Anatomical Context for Dystonia 27

Publications for Dystonia 27

Variations for Dystonia 27

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 27:

75
# Symbol AA change Variation ID SNP ID
1 COL6A3 p.Arg2501His VAR_073836 rs541928674
2 COL6A3 p.Ala2554Thr VAR_073837 rs786205870
3 COL6A3 p.Arg3043His VAR_073838 rs552651651
4 COL6A3 p.Pro3082Arg VAR_073839 rs182976977

ClinVar genetic disease variations for Dystonia 27:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Uncertain significance rs114284669 GRCh38 Chromosome 2, 237376802: 237376802
2 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Uncertain significance rs114284669 GRCh37 Chromosome 2, 238285445: 238285445
3 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Pathogenic rs786205870 GRCh38 Chromosome 2, 237344358: 237344358
4 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Pathogenic rs786205870 GRCh37 Chromosome 2, 238253001: 238253001
5 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh38 Chromosome 2, 237334727: 237334727
6 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh37 Chromosome 2, 238243370: 238243370
7 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh38 Chromosome 2, 237333533: 237333533
8 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh37 Chromosome 2, 238242176: 238242176
9 COL6A3 NM_004369.3(COL6A3): c.8966-1G> C single nucleotide variant Pathogenic rs767517186 GRCh37 Chromosome 2, 238243533: 238243533
10 COL6A3 NM_004369.3(COL6A3): c.8966-1G> C single nucleotide variant Pathogenic rs767517186 GRCh38 Chromosome 2, 237334890: 237334890
11 COL6A3 NM_004369.3(COL6A3): c.7502G> A (p.Arg2501His) single nucleotide variant Likely benign rs541928674 GRCh38 Chromosome 2, 237344516: 237344516
12 COL6A3 NM_004369.3(COL6A3): c.7502G> A (p.Arg2501His) single nucleotide variant Likely benign rs541928674 GRCh37 Chromosome 2, 238253159: 238253159
13 COL6A3 NM_004369.3(COL6A3): c.7669-2delA deletion Likely pathogenic rs764193290 GRCh37 Chromosome 2, 238250806: 238250806
14 COL6A3 NM_004369.3(COL6A3): c.7669-2delA deletion Likely pathogenic rs764193290 GRCh38 Chromosome 2, 237342163: 237342163

Expression for Dystonia 27

Search GEO for disease gene expression data for Dystonia 27.

Pathways for Dystonia 27

GO Terms for Dystonia 27

Sources for Dystonia 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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