MCID: MSC051
MIFTS: 35

Muscular Dystrophy, Rigid Spine, 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Muscle diseases categories

Aliases & Classifications for Muscular Dystrophy, Rigid Spine, 1

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 3CDC, 60UMLS, 26ICD10 via Orphanet, 34MESH via Orphanet
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Muscular Dystrophy, Rigid Spine, 1, Aliases & Descriptions:

Name: Muscular Dystrophy, Rigid Spine, 1 45 10
Rigid Spine Syndrome 41 43 47
Desmin-Related Myopathy with Mallory Body-Like Inclusions 41 47
Eichsfeld Type Congenital Muscular Dystrophy 22 60
Rigid Spine Congenital Muscular Dystrophy 41 47
Early-Onset Desmin-Related Myopathy 41 47
Rss 41 3
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 41
Desmin-Related Myopathies with Mallory Bodies 41
 
Multiminicore Disease, Severe Classic Form 41
Multicore Myopathy, Severe Classic Form 41
Minicore Myopathy, Severe Classic Form 41
Rigid Spine Muscular Dystrophy-1 41
Rigid Spine Muscular Dystrophy 1 45
Sepn1-Related Myopathy 20
Mdrs1 41
Rsmd1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
rigid spine syndrome:
Age of onset: Infancy,Neonatal


External Ids:

OMIM45 602771
Orphanet47 84132, 97244
ICD10 via Orphanet26 G71.8, G71.2
MESH via Orphanet34 C535683

Summaries for Muscular Dystrophy, Rigid Spine, 1

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OMIM:45 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 myopathy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, high palate and muscular hypotonia. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SEPN1 (selenoprotein N, 1). The compound calcium have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and muscle.

Related Diseases for Muscular Dystrophy, Rigid Spine, 1

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Diseases related to Muscular Dystrophy, Rigid Spine, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.6ACTA1, SEPN1
2muscular dystrophy10.5
3silver-russell syndrome10.5
4respiratory failure10.4
5myopathy, myofibrillar, 110.1
6emery-dreifuss muscular dystrophy10.1
7nemaline myopathy10.1
8cerebritis10.1
9cervicitis10.1
10ophthalmoplegia10.1
11scoliosis10.1
12dysferlinopathy10.1
13emerinopathy10.1
14reducing body myopathy10.1
15minicore myopathy with external ophthalmoplegia10.1
16congenital fiber-type disproportion9.8ACTA1, SEPN1
17myopathy congenital9.7ACTA1, SEPN1

Graphical network of 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 26)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 muscular hypotonia HP:0001252
4 motor delay HP:0001270
5 flexion contracture HP:0001371
6 failure to thrive HP:0001508
7 abnormality of the rib cage HP:0001547
8 nasal speech HP:0001611
9 high pitched voice HP:0001620
10 restrictive respiratory insufficiency HP:0002111
11 poor head control HP:0002421
12 scoliosis HP:0002650
13 reduced vital capacity HP:0002792
14 nocturnal hypoventilation HP:0002877
15 spinal rigidity HP:0003306
16 generalized muscle weakness HP:0003324
17 axial muscle weakness HP:0003327
18 increased variability in muscle fiber diameter HP:0003557
19 muscular dystrophy HP:0003560
20 infantile onset HP:0003593
21 nonprogressive disorder HP:0003680
22 generalized amyotrophy HP:0003700
23 type 1 and type 2 muscle fiber minicore regions HP:0003787
24 short stature HP:0004322
25 limited neck flexion HP:0005991
26 facial palsy HP:0010628

Drugs & Therapeutics for Muscular Dystrophy, Rigid Spine, 1

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Rigid Spine, 1

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 Myopathy20 SEPN1
2 Eichsfeld Type Congenital Muscular Dystrophy22

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1ACTA1, SEPN1
2MP:00053699.0ACTA1, SEPN1
3MP:00053908.8ACTA1, 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:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SEPN1NM_020451.2(SEPN1): c.818G> A (p.Gly273Glu)single nucleotide variantPathogenicrs121908182GRCh37Chr 1, 26135587: 26135587
2SEPN1NM_020451.2(SEPN1): c.1385G> A (p.Sec462=)single nucleotide variantPathogenicGRCh37Chr 1, 26139280: 26139282
3SEPN1NM_020451.2(SEPN1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121908184GRCh37Chr 1, 26126722: 26126722
4SEPN1NM_020451.2(SEPN1): c.1397G> A (p.Arg466Gln)single nucleotide variantPathogenicrs121908185GRCh37Chr 1, 26140381: 26140381
5SEPN1NM_020451.2(SEPN1): c.1358G> C (p.Trp453Ser)single nucleotide variantPathogenicrs121908186GRCh37Chr 1, 26139254: 26139254
6SEPN1SEPN1, 1-BP INS, 713AinsertionPathogenic
7SEPN1NM_020451.2(SEPN1): c.1384T> G (p.Sec462Gly)single nucleotide variantPathogenicrs121908187GRCh37Chr 1, 26139280: 26139280
8SEPN1NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)single nucleotide variantPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244
9SEPN1SEPN1, 92-BP DELdeletionPathogenic

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

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
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Compounds related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1212.1ACTA1, SEPN1

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

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

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Sources for Muscular Dystrophy, Rigid Spine, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet