MYOSAR
MCID: MYS016
MIFTS: 23

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 58 30 6 41 74
Myosclerosis 60 38 6
Myosclerosis, Congenital 58 13
Congenital Myosclerosis, Löwenthal Type 60
Myosclerosis, Congenital, of Lowenthal 58
Congenital Myosclerosis of Lowenthal 76
Myosclerosis Autosomal Recessive 76
Myopathy, Myosclerotic 58
Myosclerotic Myopathy 76
Myosar 76

Characteristics:

Orphanet epidemiological data:

60
myosclerosis
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood


HPO:

33
myosclerosis, autosomal recessive:
Onset and clinical course juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 255600
KEGG 38 H01338
ICD10 via Orphanet 35 G71.8
UMLS via Orphanet 75 C1611706
Orphanet 60 ORPHA289380
MedGen 43 C1850671
UMLS 74 C1850671

Summaries for Myosclerosis, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Myosclerosis, Autosomal Recessive, also known as myosclerosis, is related to muscle disorders and myopathy, 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 related phenotypes are facial palsy and short stature

Description 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:

# Related Disease Score Top Affiliating Genes
1 muscle disorders 10.1
2 myopathy 10.1

Symptoms & Phenotypes for Myosclerosis, Autosomal Recessive

Human phenotypes related to Myosclerosis, Autosomal Recessive:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 HP:0010628
2 short stature 33 HP:0004322
3 skeletal muscle atrophy 33 HP:0003202
4 achilles tendon contracture 33 HP:0001771
5 spinal rigidity 33 HP:0003306
6 proximal muscle weakness 33 HP:0003701
7 increased connective tissue 33 HP:0009025
8 distal muscle weakness 33 HP:0002460
9 lumbar hyperlordosis 33 HP:0002938
10 thoracolumbar scoliosis 33 HP:0002944
11 elevated serum creatine kinase 33 HP:0003236
12 restricted neck movement due to contractures 33 HP:0005997
13 decreased pulmonary function 33 HP:0005952

Symptoms via clinical synopsis from OMIM:

58
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 30 COL6A2

Anatomical Context for Myosclerosis, Autosomal Recessive

MalaCards organs/tissues related to Myosclerosis, Autosomal Recessive:

42
Skeletal Muscle

Publications for Myosclerosis, Autosomal Recessive

Articles related to Myosclerosis, Autosomal Recessive:

# Title Authors Year
1
Autosomal recessive Bethlem myopathy. ( 19949035 )
2009
2
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. ( 18852439 )
2008
3
Metastasis of carcinoma to skeletal muscle leading to myosclerosis and progressive contractures. ( 9808247 )
1998
4
The syndrome of myosclerosis. ( 4793163 )
1973

Variations for Myosclerosis, Autosomal Recessive

ClinVar genetic disease variations for Myosclerosis, Autosomal Recessive:

6 (show top 50) (show all 286)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh37 Chromosome 21, 47552201: 47552201
2 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh38 Chromosome 21, 46132287: 46132287
3 COL6A2 NM_001849.3(COL6A2): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs121912942 GRCh37 Chromosome 21, 47546449: 47546449
4 COL6A2 NM_001849.3(COL6A2): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs121912942 GRCh38 Chromosome 21, 46126535: 46126535
5 COL6A2 NM_001849.3(COL6A2): c.1161C> T (p.Ile387=) single nucleotide variant Benign/Likely benign rs140027285 GRCh37 Chromosome 21, 47538572: 47538572
6 COL6A2 NM_001849.3(COL6A2): c.1161C> T (p.Ile387=) single nucleotide variant Benign/Likely benign rs140027285 GRCh38 Chromosome 21, 46118658: 46118658
7 COL6A2 NM_001849.3(COL6A2): c.1196G> A (p.Ser399Asn) single nucleotide variant Benign rs2839110 GRCh37 Chromosome 21, 47538960: 47538960
8 COL6A2 NM_001849.3(COL6A2): c.1196G> A (p.Ser399Asn) single nucleotide variant Benign rs2839110 GRCh38 Chromosome 21, 46119046: 46119046
9 COL6A2 NM_001849.3(COL6A2): c.1251C> T (p.Arg417=) single nucleotide variant Benign/Likely benign rs61735827 GRCh37 Chromosome 21, 47539015: 47539015
10 COL6A2 NM_001849.3(COL6A2): c.1251C> T (p.Arg417=) single nucleotide variant Benign/Likely benign rs61735827 GRCh38 Chromosome 21, 46119101: 46119101
11 COL6A2 NM_001849.3(COL6A2): c.1333-8T> C single nucleotide variant Benign rs73159701 GRCh37 Chromosome 21, 47540421: 47540421
12 COL6A2 NM_001849.3(COL6A2): c.1333-8T> C single nucleotide variant Benign rs73159701 GRCh38 Chromosome 21, 46120507: 46120507
13 COL6A2 NM_001849.3(COL6A2): c.1552C> T (p.Pro518Ser) single nucleotide variant Benign/Likely benign rs141166141 GRCh37 Chromosome 21, 47542052: 47542052
14 COL6A2 NM_001849.3(COL6A2): c.1552C> T (p.Pro518Ser) single nucleotide variant Benign/Likely benign rs141166141 GRCh38 Chromosome 21, 46122138: 46122138
15 COL6A2 NM_001849.3(COL6A2): c.1609-10C> T single nucleotide variant Benign rs17357592 GRCh37 Chromosome 21, 47542779: 47542779
16 COL6A2 NM_001849.3(COL6A2): c.1609-10C> T single nucleotide variant Benign rs17357592 GRCh38 Chromosome 21, 46122865: 46122865
17 COL6A2 NM_001849.3(COL6A2): c.1671+10A> G single nucleotide variant Benign rs915786 GRCh37 Chromosome 21, 47542861: 47542861
18 COL6A2 NM_001849.3(COL6A2): c.1671+10A> G single nucleotide variant Benign rs915786 GRCh38 Chromosome 21, 46122947: 46122947
19 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 GRCh37 Chromosome 21, 47544833: 47544833
20 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 GRCh38 Chromosome 21, 46124919: 46124919
21 COL6A2 NM_001849.3(COL6A2): c.1770+4G> A single nucleotide variant Benign rs9981981 GRCh37 Chromosome 21, 47544838: 47544838
22 COL6A2 NM_001849.3(COL6A2): c.1770+4G> A single nucleotide variant Benign rs9981981 GRCh38 Chromosome 21, 46124924: 46124924
23 COL6A2 NM_001849.3(COL6A2): c.1817-3dupC duplication Benign rs149954350 GRCh37 Chromosome 21, 47545376: 47545376
24 COL6A2 NM_001849.3(COL6A2): c.1817-3dupC duplication Benign rs149954350 GRCh38 Chromosome 21, 46125462: 46125462
25 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 GRCh37 Chromosome 21, 47545696: 47545696
26 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 GRCh38 Chromosome 21, 46125782: 46125782
27 COL6A2 NM_001849.3(COL6A2): c.2039G> A (p.Arg680His) single nucleotide variant Benign rs1042917 GRCh37 Chromosome 21, 47545768: 47545768
28 COL6A2 NM_001849.3(COL6A2): c.2039G> A (p.Arg680His) single nucleotide variant Benign rs1042917 GRCh38 Chromosome 21, 46125854: 46125854
29 COL6A2 NM_001849.3(COL6A2): c.2094G> A (p.Ala698=) single nucleotide variant Benign rs13052956 GRCh37 Chromosome 21, 47545823: 47545823
30 COL6A2 NM_001849.3(COL6A2): c.2094G> A (p.Ala698=) single nucleotide variant Benign rs13052956 GRCh38 Chromosome 21, 46125909: 46125909
31 COL6A2 NM_001849.3(COL6A2): c.2097C> T (p.Gly699=) single nucleotide variant Benign rs13046639 GRCh37 Chromosome 21, 47545826: 47545826
32 COL6A2 NM_001849.3(COL6A2): c.2097C> T (p.Gly699=) single nucleotide variant Benign rs13046639 GRCh38 Chromosome 21, 46125912: 46125912
33 COL6A2 NM_001849.3(COL6A2): c.2160C> G (p.Arg720=) single nucleotide variant Benign/Likely benign rs61735829 GRCh37 Chromosome 21, 47545889: 47545889
34 COL6A2 NM_001849.3(COL6A2): c.2160C> G (p.Arg720=) single nucleotide variant Benign/Likely benign rs61735829 GRCh38 Chromosome 21, 46125975: 46125975
35 COL6A2 NM_001849.3(COL6A2): c.2163G> A (p.Gln721=) single nucleotide variant Benign rs16978875 GRCh37 Chromosome 21, 47545892: 47545892
36 COL6A2 NM_001849.3(COL6A2): c.2163G> A (p.Gln721=) single nucleotide variant Benign rs16978875 GRCh38 Chromosome 21, 46125978: 46125978
37 COL6A2 NM_001849.3(COL6A2): c.2184G> A (p.Val728=) single nucleotide variant Benign rs2839114 GRCh37 Chromosome 21, 47545913: 47545913
38 COL6A2 NM_001849.3(COL6A2): c.2184G> A (p.Val728=) single nucleotide variant Benign rs2839114 GRCh38 Chromosome 21, 46125999: 46125999
39 COL6A2; FTCD NM_001849.3(COL6A2): c.2697G> T (p.Thr899=) single nucleotide variant Benign/Likely benign rs11554669 GRCh37 Chromosome 21, 47552103: 47552103
40 COL6A2; FTCD NM_001849.3(COL6A2): c.2697G> T (p.Thr899=) single nucleotide variant Benign/Likely benign rs11554669 GRCh38 Chromosome 21, 46132189: 46132189
41 COL6A2; FTCD NM_001849.3(COL6A2): c.2724A> G (p.Thr908=) single nucleotide variant Benign rs9977394 GRCh37 Chromosome 21, 47552130: 47552130
42 COL6A2; FTCD NM_001849.3(COL6A2): c.2724A> G (p.Thr908=) single nucleotide variant Benign rs9977394 GRCh38 Chromosome 21, 46132216: 46132216
43 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 GRCh37 Chromosome 21, 47552175: 47552175
44 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 GRCh38 Chromosome 21, 46132261: 46132261
45 COL6A2; FTCD NM_001849.3(COL6A2): c.2803G> A (p.Gly935Arg) single nucleotide variant Benign/Likely benign rs35548026 GRCh37 Chromosome 21, 47552209: 47552209
46 COL6A2; FTCD NM_001849.3(COL6A2): c.2803G> A (p.Gly935Arg) single nucleotide variant Benign/Likely benign rs35548026 GRCh38 Chromosome 21, 46132295: 46132295
47 COL6A2; FTCD NM_001849.3(COL6A2): c.2979C> T (p.Arg993=) single nucleotide variant Benign/Likely benign rs6652 GRCh37 Chromosome 21, 47552385: 47552385
48 COL6A2; FTCD NM_001849.3(COL6A2): c.2979C> T (p.Arg993=) single nucleotide variant Benign/Likely benign rs6652 GRCh38 Chromosome 21, 46132471: 46132471
49 COL6A2 NM_001849.3(COL6A2): c.2983G> A (p.Ala995Thr) single nucleotide variant Benign/Likely benign rs35139588 GRCh37 Chromosome 21, 47552389: 47552389
50 COL6A2 NM_001849.3(COL6A2): c.2983G> A (p.Ala995Thr) single nucleotide variant Benign/Likely benign rs35139588 GRCh38 Chromosome 21, 46132475: 46132475

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:

38
# 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
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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