MYOSAR
MCID: MYS016
MIFTS: 32

Myosclerosis, Autosomal Recessive (MYOSAR)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myosclerosis, Autosomal Recessive

MalaCards integrated aliases for Myosclerosis, Autosomal Recessive:

Name: Myosclerosis, Autosomal Recessive 57 29 6 40 72
Myosclerosis 59 37 6
Myosclerosis, Congenital 57 13
Congenital Myosclerosis, Lowenthal Type 59
Myosclerosis, Congenital, of Lowenthal 57
Congenital Myosclerosis of Lowenthal 74
Myosclerosis Autosomal Recessive 74
Myopathy, Myosclerotic 57
Myosclerotic Myopathy 74
Myosar 74

Characteristics:

Orphanet epidemiological data:

59
myosclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood


HPO:

32
myosclerosis, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 255600
KEGG 37 H01338
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C1611706
Orphanet 59 ORPHA289380
MedGen 42 C1850671
UMLS 72 C1850671

Summaries for Myosclerosis, Autosomal Recessive

KEGG : 37
Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s the muscles are slender with a firm woody consistency and associated with contractures that restrict range of motion of many joints.

MalaCards based summary : Myosclerosis, Autosomal Recessive, also known as myosclerosis, is related to systemic scleroderma and bethlem myopathy 1, and has symptoms including facial paresis An important gene associated with Myosclerosis, Autosomal Recessive is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include skeletal muscle and heart, and related phenotypes are facial palsy and short stature

UniProtKB/Swiss-Prot : 74 Myosclerosis autosomal recessive: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.

More information from OMIM: 255600

Related Diseases for Myosclerosis, Autosomal Recessive

Diseases related to Myosclerosis, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 systemic scleroderma 10.4
2 bethlem myopathy 1 10.1
3 myositis 10.1
4 ullrich congenital muscular dystrophy 1 10.1
5 muscular dystrophy, congenital, lmna-related 10.1
6 spinal muscular atrophy 10.1
7 lipomatosis 10.1
8 myopathy 10.1
9 connective tissue disease 10.1
10 muscular atrophy 10.1
11 muscular dystrophy 10.1
12 collagen type vi-related disorders 10.1

Graphical network of the top 20 diseases related to Myosclerosis, Autosomal Recessive:



Diseases related to Myosclerosis, Autosomal Recessive

Symptoms & Phenotypes for Myosclerosis, Autosomal Recessive

Human phenotypes related to Myosclerosis, Autosomal Recessive:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 short stature 32 HP:0004322
3 skeletal muscle atrophy 32 HP:0003202
4 achilles tendon contracture 32 HP:0001771
5 spinal rigidity 32 HP:0003306
6 proximal muscle weakness 32 HP:0003701
7 increased connective tissue 32 HP:0009025
8 distal muscle weakness 32 HP:0002460
9 lumbar hyperlordosis 32 HP:0002938
10 thoracolumbar scoliosis 32 HP:0002944
11 decreased pulmonary function 32 HP:0005952
12 elevated serum creatine kinase 32 HP:0003236
13 restricted neck movement due to contractures 32 HP:0005997
14 reduced forced vital capacity 32 HP:0032341

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Muscle Soft Tissue:
muscle atrophy
internal nuclei
muscle weakness, mild, proximal and distal
muscles have a woody consistency on palpation
muscle biopsy shows fibrosis and increased connective tissue
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Mouth:
limited mouth opening due to jaw contractures

Skeletal:
severe contractures of all joints, proximal and distal

Skeletal Spine:
thoracolumbar scoliosis
lumbar lordosis
rigid spine

Head And Neck Face:
facial muscle weakness

Respiratory:
decreased forced vital capacity
restrictive pulmonary function

Head And Neck Neck:
limited neck motion due to spinal contractures

Clinical features from OMIM:

255600

UMLS symptoms related to Myosclerosis, Autosomal Recessive:


facial paresis

Drugs & Therapeutics for Myosclerosis, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Myosclerosis, Autosomal Recessive

Genetic Tests for Myosclerosis, Autosomal Recessive

Genetic tests related to Myosclerosis, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Myosclerosis, Autosomal Recessive 29 COL6A2

Anatomical Context for Myosclerosis, Autosomal Recessive

MalaCards organs/tissues related to Myosclerosis, Autosomal Recessive:

41
Skeletal Muscle, Heart

Publications for Myosclerosis, Autosomal Recessive

Articles related to Myosclerosis, Autosomal Recessive:

(show all 20)
# Title Authors PMID Year
1
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 38 8 71
18852439 2008
2
Autosomal recessive Bethlem myopathy. 71
19949035 2009
3
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 38
24907562 2014
4
Collagen type VI myopathies. 38
24443028 2014
5
Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. 38
24596691 2013
6
Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. 38
23580791 2013
7
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. 38
21953374 2012
8
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. 38
22226732 2012
9
Effects of T-lymphocyte depletion on muscle fibrosis in the mdx mouse. 38
15920155 2005
10
Collagen Type VI-Related Disorders 38
20301676 2004
11
Metastasis of carcinoma to skeletal muscle leading to myosclerosis and progressive contractures. 38
9808247 1998
12
[Emery-Dreifuss disease. A discussion of 2 new cases]. 38
3065868 1988
13
[Rigid spine syndrome and its nosological borders. 2 cases]. 38
6232547 1984
14
[Dyspnea, thoracic discomfort and nausea (proteinuria, blood chemistry, thoracic radiography and heart sounds)--erythema nodosum: (endocardial myosclerosis)]. 38
611188 1977
15
The syndrome of myosclerosis. 38
4793163 1973
16
[Degenerating connective tissue diseases: myosclerosis, symmetrical lipomatosis and progressive, ossifying myositis]. 38
5926637 1966
17
[Scleroderma in bands with retractile myosclerosis in a 9-year-old child]. 38
13818728 1959
18
[Scleroderma in bands with retractile myosclerosis in a 9-year-old girl]. 38
13818729 1959
19
[Disseminated scleroderma with retractile myosclerosis in a 5 year old child]. 38
13511179 1958
20
[Flexion abdomino-crural contracture in certain cases of Addison's disease; comparison with so-called retractile myosclerosis of poikilodermatomyositis]. 38
13281251 1955

Variations for Myosclerosis, Autosomal Recessive

ClinVar genetic disease variations for Myosclerosis, Autosomal Recessive:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.3(COL6A2): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs121912942 21:47546449-47546449 21:46126535-46126535
2 COL6A2 NM_001849.3(COL6A2): c.1806C> A (p.Cys602Ter) single nucleotide variant Likely pathogenic 21:47545215-47545215 21:46125301-46125301
3 COL6A2 NM_001849.3(COL6A2): c.2891T> C (p.Met964Thr) single nucleotide variant Likely pathogenic 21:47552297-47552297 21:46132383-46132383
4 COL6A2 ; FTCD NM_006657.2(FTCD): c.1540-17_1540-16delTT deletion Conflicting interpretations of pathogenicity rs747091513 21:47557003-47557004 21:46137089-46137090
5 COL6A2 NM_001849.3(COL6A2): c.492C> T (p.His164=) single nucleotide variant Conflicting interpretations of pathogenicity rs140929054 21:47532269-47532269 21:46112355-46112355
6 COL6A2 NM_001849.3(COL6A2): c.189G> A (p.Thr63=) single nucleotide variant Conflicting interpretations of pathogenicity rs143583433 21:47531966-47531966 21:46112052-46112052
7 COL6A2 NM_001849.3(COL6A2): c.2170C> T (p.Arg724Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150098077 21:47545899-47545899 21:46125985-46125985
8 COL6A2 NM_001849.3(COL6A2): c.2634G> A (p.Ala878=) single nucleotide variant Conflicting interpretations of pathogenicity rs143749884 21:47552040-47552040 21:46132126-46132126
9 COL6A2 NM_001849.3(COL6A2): c.2707G> A (p.Glu903Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373611722 21:47552113-47552113 21:46132199-46132199
10 COL6A2 NM_001849.3(COL6A2): c.1674G> A (p.Ala558=) single nucleotide variant Conflicting interpretations of pathogenicity rs144334894 21:47544567-47544567 21:46124653-46124653
11 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 21:47552201-47552201 21:46132287-46132287
12 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 21:47536717-47536717 21:46116803-46116803
13 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 21:47537804-47537804 21:46117890-46117890
14 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 21:47540432-47540432 21:46120518-46120518
15 COL6A2 NM_001849.3(COL6A2): c.1333-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199513044 21:47540419-47540419 21:46120505-46120505
16 COL6A2 NM_001849.3(COL6A2): c.1437T> C (p.Ala479=) single nucleotide variant Conflicting interpretations of pathogenicity rs149077114 21:47541016-47541016 21:46121102-46121102
17 COL6A2 NM_001849.3(COL6A2): c.2517C> T (p.Asp839=) single nucleotide variant Conflicting interpretations of pathogenicity rs113002150 21:47551923-47551923 21:46132009-46132009
18 COL6A2 NM_001849.3(COL6A2): c.2751G> T (p.Val917=) single nucleotide variant Conflicting interpretations of pathogenicity rs111341650 21:47552157-47552157 21:46132243-46132243
19 COL6A2 NM_001849.3(COL6A2): c.2605G> T (p.Asp869Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141021828 21:47552011-47552011 21:46132097-46132097
20 COL6A2 NM_001849.3(COL6A2): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61735828 21:47541477-47541477 21:46121563-46121563
21 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 21:47545690-47545690 21:46125776-46125776
22 COL6A2 NM_001849.3(COL6A2): c.2582G> A (p.Arg861Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373813975 21:47551988-47551988 21:46132074-46132074
23 COL6A2 NM_001849.3(COL6A2): c.511G> A (p.Gly171Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200710788 21:47532288-47532288 21:46112374-46112374
24 COL6A2 NM_001849.3(COL6A2): c.2182G> A (p.Val728Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200585528 21:47545911-47545911 21:46125997-46125997
25 COL6A2 NM_001849.3(COL6A2): c.1817-3delC deletion Conflicting interpretations of pathogenicity rs149954350 21:47545376-47545376 21:46125462-46125462
26 COL6A2 NM_001849.3(COL6A2): c.1817-8C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750444649 21:47545371-47545371 21:46125457-46125457
27 COL6A2 NM_001849.3(COL6A2): c.568G> A (p.Val190Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150877061 21:47532345-47532345 21:46112431-46112431
28 COL6A2 NM_001849.3(COL6A2): c.84G> A (p.Pro28=) single nucleotide variant Conflicting interpretations of pathogenicity rs140890046 21:47531474-47531474 21:46111560-46111560
29 COL6A2 NM_001849.3(COL6A2): c.1489C> A (p.Pro497Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs75581470 21:47541500-47541500 21:46121586-46121586
30 COL6A2 NM_001849.3(COL6A2): c.2661G> A (p.Glu887=) single nucleotide variant Conflicting interpretations of pathogenicity rs148249892 21:47552067-47552067 21:46132153-46132153
31 COL6A2 NM_001849.3(COL6A2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377195134 21:47552471-47552471 21:46132557-46132557
32 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 21:47544833-47544833 21:46124919-46124919
33 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 21:47545696-47545696 21:46125782-46125782
34 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 21:47552175-47552175 21:46132261-46132261
35 COL6A2 NM_001849.3(COL6A2): c.759A> G (p.Glu253=) single nucleotide variant Conflicting interpretations of pathogenicity rs140404854 21:47533945-47533945 21:46114031-46114031
36 COL6A2 ; FTCD NM_006657.3(FTCD): c.*67C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139773262 21:47556344-47556344 21:46136430-46136430
37 COL6A2 ; FTCD NM_006657.3(FTCD): c.*15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs114980528 21:47556396-47556396 21:46136482-46136482
38 COL6A2 NM_001849.3(COL6A2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs530625182 21:47532426-47532426 21:46112512-46112512
39 COL6A2 ; FTCD NM_006657.3(FTCD): c.*127C> A single nucleotide variant Conflicting interpretations of pathogenicity rs538433909 21:47556284-47556284 21:46136370-46136370
40 COL6A2 NM_001849.3(COL6A2): c.2250C> T (p.Arg750=) single nucleotide variant Conflicting interpretations of pathogenicity rs200096552 21:47545979-47545979 21:46126065-46126065
41 COL6A2 NM_001849.3(COL6A2): c.2523C> T (p.Ser841=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697707 21:47551929-47551929 21:46132015-46132015
42 COL6A2 NM_001849.3(COL6A2): c.2986G> A (p.Val996Met) single nucleotide variant Uncertain significance rs142432514 21:47552392-47552392 21:46132478-46132478
43 COL6A2 NM_001849.3(COL6A2): c.*31C> T single nucleotide variant Uncertain significance rs886057169 21:47552497-47552497 21:46132583-46132583
44 COL6A2 NM_001849.3(COL6A2): c.2436G> A (p.Val812=) single nucleotide variant Uncertain significance rs372745282 21:47546430-47546430 21:46126516-46126516
45 COL6A2 NM_001849.3(COL6A2): c.1599C> T (p.Arg533=) single nucleotide variant Uncertain significance rs373635709 21:47542436-47542436 21:46122522-46122522
46 COL6A2 NM_001849.3(COL6A2): c.116-11G> A single nucleotide variant Uncertain significance rs886057166 21:47531882-47531882 21:46111968-46111968
47 COL6A2 NM_001849.3(COL6A2): c.620C> G (p.Thr207Arg) single nucleotide variant Uncertain significance rs760395633 21:47532397-47532397 21:46112483-46112483
48 COL6A2 NM_001849.3(COL6A2): c.1911C> T (p.Phe637=) single nucleotide variant Uncertain significance rs746339542 21:47545473-47545473 21:46125559-46125559
49 COL6A2 NM_001849.3(COL6A2): c.2134G> T (p.Asp712Tyr) single nucleotide variant Uncertain significance rs375608173 21:47545863-47545863 21:46125949-46125949
50 COL6A2 NM_001849.3(COL6A2): c.901-10C> T single nucleotide variant Uncertain significance rs754039292 21:47536281-47536281 21:46116367-46116367

Expression for Myosclerosis, Autosomal Recessive

Search GEO for disease gene expression data for Myosclerosis, Autosomal Recessive.

Pathways for Myosclerosis, Autosomal Recessive

Pathways related to Myosclerosis, Autosomal Recessive according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

GO Terms for Myosclerosis, Autosomal Recessive

Sources for Myosclerosis, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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