DYT27
MCID: DYS172
MIFTS: 36

Dystonia 27 (DYT27)

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

Aliases & Classifications for Dystonia 27

MalaCards integrated aliases for Dystonia 27:

Name: Dystonia 27 57 12 72 29 6 15
Dyt27 57 72
Primary Dystonia, Dyt27 Type 58
Dystonia, Type 27 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first or second decade


HPO:

31
dystonia 27:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090050
OMIM® 57 616411
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004421
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA464440

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 autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.

MalaCards based summary : Dystonia 27, also known as dyt27, is related to cervical dystonia and isolated dystonia. An important gene associated with Dystonia 27 is COL6A3 (Collagen Type VI Alpha 3 Chain), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. Related phenotypes are laryngeal dystonia and oromandibular dystonia

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Dystonia 27:



Diseases related to Dystonia 27

Symptoms & Phenotypes for Dystonia 27

Human phenotypes related to Dystonia 27:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012049
2 oromandibular dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012048
3 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
4 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
5 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
6 upper limb postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0007351
7 postural tremor 31 HP:0002174
8 action tremor 58 Frequent (79-30%)
9 focal dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
writer's cramp
postural tremor
action tremor
upper limb involvement
dystonia, isolated, segmental
more
Head And Neck Mouth:
oromandibular dystonia

Respiratory Larynx:
laryngeal dystonia

Clinical features from OMIM®:

616411 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Dystonia 27:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 CIZ1 COL13A1 COL25A1 COL6A3 GNAL HPCA

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

Articles related to Dystonia 27:

# Title Authors PMID Year
1
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 6 57
26004199 2015
2
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 61
32037012 2020
3
Genetic landscape of pediatric movement disorders and management implications. 61
30283815 2018
4
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. 61
30012219 2018
5
Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 61
29066004 2018
6
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 61
26687111 2016

Variations for Dystonia 27

ClinVar genetic disease variations for Dystonia 27:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL6A3 NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) SNV Pathogenic 192264 rs541928674 GRCh37: 2:238253159-238253159
GRCh38: 2:237344516-237344516
2 COL6A3 NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) SNV Pathogenic 192261 rs552651651 GRCh37: 2:238243370-238243370
GRCh38: 2:237334727-237334727
3 COL6A3 NM_004369.3(COL6A3):c.8966-1G>C SNV Pathogenic 192263 rs767517186 GRCh37: 2:238243533-238243533
GRCh38: 2:237334890-237334890
4 COL6A3 NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) SNV Pathogenic 94911 rs398124119 GRCh37: 2:238303764-238303764
GRCh38: 2:237395121-237395121
5 COL6A3 NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) SNV Pathogenic 192262 rs182976977 GRCh37: 2:238242176-238242176
GRCh38: 2:237333533-237333533
6 COL6A3 NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) SNV Pathogenic 192260 rs786205870 GRCh37: 2:238253001-238253001
GRCh38: 2:237344358-237344358
7 COL6A3 NM_004369.3(COL6A3):c.7669-2del Deletion Likely pathogenic 417888 rs764193290 GRCh37: 2:238250806-238250806
GRCh38: 2:237342163-237342163
8 COL6A3 NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) SNV Uncertain significance 162547 rs114284669 GRCh37: 2:238285445-238285445
GRCh38: 2:237376802-237376802
9 COL6A3 NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) SNV Uncertain significance 128822 rs142851023 GRCh37: 2:238249550-238249550
GRCh38: 2:237340907-237340907
10 COL6A3 NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) SNV Uncertain significance 449785 rs778403814 GRCh37: 2:238283514-238283514
GRCh38: 2:237374871-237374871
11 COL6A3 NM_004369.3(COL6A3):c.2236C>A (p.Leu746Ile) SNV Uncertain significance 548596 rs755052076 GRCh37: 2:238287540-238287540
GRCh38: 2:237378897-237378897
12 COL6A3 NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) SNV Uncertain significance 476523 rs144314743 GRCh37: 2:238277797-238277797
GRCh38: 2:237369154-237369154
13 COL6A3 NM_004369.3(COL6A3):c.5734G>A (p.Glu1912Lys) SNV Uncertain significance 476537 rs113251155 GRCh37: 2:238274445-238274445
GRCh38: 2:237365802-237365802
14 COL6A3 NM_004369.3(COL6A3):c.709+8C>T SNV Uncertain significance 288686 rs779535244 GRCh37: 2:238303222-238303222
GRCh38: 2:237394579-237394579
15 COL6A3 NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu) SNV Uncertain significance 289646 rs150694150 GRCh37: 2:238274354-238274354
GRCh38: 2:237365711-237365711
16 COL6A3 NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) SNV Uncertain significance 193877 rs145447965 GRCh37: 2:238275489-238275489
GRCh38: 2:237366846-237366846
17 COL6A3 NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) SNV Uncertain significance 284966 rs886042996 GRCh37: 2:238283235-238283235
GRCh38: 2:237374592-237374592
18 COL6A3 NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) SNV Uncertain significance 289937 rs201962257 GRCh37: 2:238283511-238283511
GRCh38: 2:237374868-237374868
19 COL6A3 NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) SNV Uncertain significance 288419 rs370664069 GRCh37: 2:238285430-238285430
GRCh38: 2:237376787-237376787

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

72
# 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

Expression for Dystonia 27

Search GEO for disease gene expression data for Dystonia 27.

Pathways for Dystonia 27

Pathways related to Dystonia 27 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 GNAL COL6A3 COL25A1 COL13A1
2
Show member pathways
12.23 COL6A3 COL25A1 COL13A1
3
Show member pathways
12.15 GNAL COL6A3 COL25A1 COL13A1
4
Show member pathways
11.99 COL6A3 COL25A1 COL13A1
5
Show member pathways
11.56 COL6A3 COL13A1
6 9.83 GNAL COL6A3 COL25A1 COL13A1

GO Terms for Dystonia 27

Cellular components related to Dystonia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 COL6A3 COL25A1 COL13A1
2 endoplasmic reticulum lumen GO:0005788 9.13 COL6A3 COL25A1 COL13A1
3 collagen trimer GO:0005581 8.8 COL6A3 COL25A1 COL13A1

Molecular functions related to Dystonia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL6A3 COL25A1 COL13A1

Sources for Dystonia 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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