MCID: MSC051
MIFTS: 38

Muscular Dystrophy, Rigid Spine, 1 malady

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

Aliases & Classifications for Muscular Dystrophy, Rigid Spine, 1

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 2CDC, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muscular Dystrophy, Rigid Spine, 1:

Name: Muscular Dystrophy, Rigid Spine, 1 49 11
Rigid Spine Syndrome 45 22 47 51 67
Rss 45 22 67 2
Congenital Muscular Dystrophy Eichsfeld Type 67 24
Sepn1-Related Myopathy 22 67
Rsmd1 45 67
Mdrs1 45 67
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 45
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 67
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 67
Congenital Muscular Dystrophy with Early Spine Rigidity 22
Desmin-Related Myopathies with Mallory Bodies 45
 
Eichsfeld Type Congenital Muscular Dystrophy 65
Desmin-Related Myopathy with Mallory Bodies 67
Multiminicore Disease, Severe Classic Form 45
Rigid Spine Congenital Muscular Dystrophy 51
Multiminicore Disease Severe Classic Form 67
Multicore Myopathy, Severe Classic Form 45
Minicore Myopathy, Severe Classic Form 45
Multicore Myopathy Severe Classic Form 67
Minicore Myopathy Severe Classic Form 67
Rigid Spine Muscular Dystrophy 1 67
Rigid Spine Muscular Dystrophy-1 45

Characteristics:

Orphanet epidemiological data:

51
rigid spine syndrome:
Age of onset: Infancy,Neonatal

HPO:

61
muscular dystrophy, rigid spine, 1:
Onset and clinical course: nonprogressive, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 602771
Orphanet51 97244
ICD10 via Orphanet28 G71.2
MESH via Orphanet37 C535683
MedGen34 C0410180
MeSH36 D020914
UMLS65 C0410180

Summaries for Muscular Dystrophy, Rigid Spine, 1

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OMIM:49 Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined... (602771) more...

MalaCards based summary: Muscular Dystrophy, Rigid Spine, 1, also known as rigid spine syndrome, is related to desmin-related myopathy with mallory body-like inclusions and silver-russell syndrome, and has symptoms including facial palsy, limited neck flexion and short stature. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SEPN1 (Selenoprotein N, 1), and among its related pathways are Striated Muscle Contraction and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Related mouse phenotypes are skeleton and muscle.

UniProtKB/Swiss-Prot:67 Rigid spine muscular dystrophy 1: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.

Related Diseases for Muscular Dystrophy, Rigid Spine, 1

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Graphical network of the top 20 diseases related to Muscular Dystrophy, Rigid Spine, 1:



Diseases related to muscular dystrophy, rigid spine, 1

Symptoms for Muscular Dystrophy, Rigid Spine, 1

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Symptoms by clinical synopsis from OMIM:

602771

Clinical features from OMIM:

602771

HPO human phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

(show all 23)
id Description Frequency HPO Source Accession
1 facial palsy HP:0010628
2 limited neck flexion HP:0005991
3 short stature HP:0004322
4 type 1 and type 2 muscle fiber minicore regions HP:0003787
5 generalized amyotrophy HP:0003700
6 muscular dystrophy HP:0003560
7 increased variability in muscle fiber diameter HP:0003557
8 axial muscle weakness HP:0003327
9 generalized muscle weakness HP:0003324
10 spinal rigidity HP:0003306
11 nocturnal hypoventilation HP:0002877
12 reduced vital capacity HP:0002792
13 scoliosis HP:0002650
14 poor head control HP:0002421
15 restrictive respiratory insufficiency HP:0002111
16 high pitched voice HP:0001620
17 nasal speech HP:0001611
18 abnormality of the rib cage HP:0001547
19 failure to thrive HP:0001508
20 flexion contracture HP:0001371
21 motor delay HP:0001270
22 muscular hypotonia HP:0001252
23 high palate HP:0000218

Drugs & Therapeutics for Muscular Dystrophy, Rigid Spine, 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
2Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883

Search NIH Clinical Center for Muscular Dystrophy, Rigid Spine, 1

Genetic Tests for Muscular Dystrophy, Rigid Spine, 1

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Genetic tests related to Muscular Dystrophy, Rigid Spine, 1:

id Genetic test Affiliating Genes
1 Sepn1-Related Myopathy22 SEPN1

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

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Animal Models for Muscular Dystrophy, Rigid Spine, 1 or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1ACTA1, DMD, GAA, SEPN1
2MP:00053698.0ACTA1, DMD, GAA, SEPN1

Publications for Muscular Dystrophy, Rigid Spine, 1

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Variations for Muscular Dystrophy, Rigid Spine, 1

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

67
id Symbol AA change Variation ID SNP ID
1SEPN1p.Gly273GluVAR_019635
2SEPN1p.His293ArgVAR_019636
3SEPN1p.Gly315SerVAR_019637
4SEPN1p.Asn340IleVAR_019638
5SEPN1p.Trp453SerVAR_019639
6SEPN1p.Sec462GlyVAR_019640
7SEPN1p.Arg466GlnVAR_019641
8SEPN1p.Gly463ValVAR_058462
9SEPN1p.Arg469GlnVAR_058463
10SEPN1p.Arg469TrpVAR_058464

Clinvar genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1SEPN1NM_020451.2(SEPN1): c.44_72dup29 (p.Arg25Alafs)duplicationPathogenicrs797044620GRCh37Chr 1, 26126765: 26126793
2SEPN1NM_020451.2(SEPN1): c.13_22dupCGGCCGGGCC (p.Gln8Profs)duplicationPathogenicrs797044621GRCh37Chr 1, 26126734: 26126743
3SEPN1NM_020451.2(SEPN1): c.872+2T> Csingle nucleotide variantPathogenicrs794727808GRCh37Chr 1, 26135643: 26135643
4SEPN1NM_020451.2(SEPN1): c.1096G> T (p.Glu366Ter)single nucleotide variantPathogenicrs794727976GRCh37Chr 1, 26138185: 26138185
5SEPN1NM_020451.2(SEPN1): c.818G> A (p.Gly273Glu)single nucleotide variantPathogenicrs121908182GRCh37Chr 1, 26135587: 26135587
6SEPN1NM_020451.2(SEPN1): c.1385G> A (p.Sec462=)single nucleotide variantPathogenicrs587776597GRCh37Chr 1, 26139281: 26139281
7SEPN1NM_020451.2(SEPN1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121908184GRCh37Chr 1, 26126722: 26126722
8SEPN1NM_020451.2(SEPN1): c.1397G> A (p.Arg466Gln)single nucleotide variantPathogenicrs121908185GRCh37Chr 1, 26140381: 26140381
9SEPN1NM_020451.2(SEPN1): c.1358G> C (p.Trp453Ser)single nucleotide variantPathogenicrs121908186GRCh37Chr 1, 26139254: 26139254
10SEPN1NM_020451.2(SEPN1): c.713dupA (p.Asn238Lysfs)duplicationPathogenicrs368104077GRCh38Chr 1, 25808755: 25808755
11SEPN1NM_020451.2(SEPN1): c.1384T> G (p.Sec462Gly)single nucleotide variantPathogenicrs121908187GRCh37Chr 1, 26139280: 26139280
12SEPN1NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)single nucleotide variantPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244
13SEPN1SEPN1, 92-BP DELdeletionPathogenic
14SEPN1NM_020451.2(SEPN1): c.1315C> T (p.Arg439Ter)single nucleotide variantPathogenicrs377215510GRCh37Chr 1, 26139211: 26139211
15SEPN1NM_020451.2(SEPN1): c.301+1G> Tsingle nucleotide variantPathogenicrs398124360GRCh37Chr 1, 26127652: 26127652

Expression for genes affiliated with Muscular Dystrophy, Rigid Spine, 1

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Search GEO for disease gene expression data for Muscular Dystrophy, Rigid Spine, 1.

Pathways for genes affiliated with Muscular Dystrophy, Rigid Spine, 1

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Pathways related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1ACTA1, DMD
29.1ACTA1, DMD

GO Terms for genes affiliated with Muscular Dystrophy, Rigid Spine, 1

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Cellular components related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:00156299.1ACTA1, DMD

Biological processes related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:00600489.0DMD, GAA

Sources for Muscular Dystrophy, Rigid Spine, 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet