MCID: MSC051
MIFTS: 44

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:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 48Novoseek, 2CDC, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Muscular Dystrophy, Rigid Spine, 1 50 12
Rigid Spine Syndrome 46 23 52 68 48
Rss 46 23 68 2
Congenital Muscular Dystrophy Eichsfeld Type 68 25
Rigid Spine Muscular Dystrophy 1 50 68
Sepn1-Related Myopathy 23 68
Rsmd1 46 68
Mdrs1 46 68
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 46
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 68
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 68
Desmin-Related Myopathy with Mallory Body-Like Inclusions 52
Congenital Muscular Dystrophy with Early Spine Rigidity 23
Desmin-Related Myopathies with Mallory Bodies 46
 
Eichsfeld Type Congenital Muscular Dystrophy 66
Desmin-Related Myopathy with Mallory Bodies 68
Multiminicore Disease, Severe Classic Form 46
Rigid Spine Congenital Muscular Dystrophy 52
Multiminicore Disease Severe Classic Form 68
Multicore Myopathy, Severe Classic Form 46
Minicore Myopathy, Severe Classic Form 46
Multicore Myopathy Severe Classic Form 68
Minicore Myopathy Severe Classic Form 68
Early-Onset Desmin-Related Myopathy 52
Rigid Spine Muscular Dystrophy-1 46
Classic Multiminicore Myopathy 52
Classic Multiminicore Disease 52
Classic Mmd 52

Characteristics:

Orphanet epidemiological data:

52
rigid spine syndrome:
Age of onset: Infancy,Neonatal

HPO:

62
muscular dystrophy, rigid spine, 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, nonprogressive


Classifications:



External Ids:

OMIM50 602771
ICD10 via Orphanet29 G71.2, G71.8
MESH via Orphanet38 C535683
MedGen35 C0410180
MeSH37 D020914

Summaries for Muscular Dystrophy, Rigid Spine, 1

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OMIM:50 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 silver-russell syndrome and robinow-sorauf syndrome, and has symptoms including facial paresis, facial paresis and generalized muscle weakness. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SEPN1 (Selenoprotein N, 1), and among its related pathways are RhoGDI Pathway and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include testes, and related mouse phenotypes are skeleton and muscle.

UniProtKB/Swiss-Prot:68 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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Diseases related to Muscular Dystrophy, Rigid Spine, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome12.0
2robinow-sorauf syndrome11.3
3sepn1-related multiminicore disease11.1
4endometrial stromal sarcoma10.3ACTA1, SEPN1
5unverricht-lundborg syndrome10.3MYH7, SEPN1
6myopathy10.2
7muscular dystrophy10.2
8symmastia10.2MYH7, TTN
9autoimmune thyroid disease 210.1MYH7, TTN
10respiratory failure10.0
11myopathy, congenital, with fiber-type disproportion10.0ACTA1, MYH7, SEPN1
12common wart10.0SEPN1, TTN
13dowling-degos disease10.0ACTA1, MYH7, SEPN1
14cardiomyopathy10.0
15myopathy, myofibrillar, 19.9
16cardiomyopathy, familial hypertrophic9.9MYH7, TTN
17bethlem myopathy 19.9DMD, SEPN1
18scoliosis9.8
19reducing body myopathy9.8
20congenital myopathy9.8
21emery-dreifuss muscular dystrophy9.8
22cervicitis9.8
23nemaline myopathy9.8
24cerebritis9.8
25dysferlinopathy9.8
26emerinopathy9.8
27classic variant of chromophobe renal cell carcinoma9.8DMD, SEPN1
28cubitus valgus with mental retardation and unusual facies9.7DMD, GAA
29occupational dermatitis9.7DMD, TTN
30cataract 16, multiple types9.5ACTA1, DMD, MYH7
31immunodeficiency 34, mycobacteriosis, x-linked9.5DMD, TTN
32myopathy, lactic acidosis, and sideroblastic anemia9.5DMD, SEPN1, TTN
33muscular dystrophy, congenital9.5DMD, MDCMP, SEPN1
34cornelia de lange syndrome9.4DMD, MYH7, TTN
35extraosseous ewing's sarcoma9.4ACTA1, MYH7, SEPN1, TTN
36adams-oliver syndrome 29.4DMD, TTN
37longitudinal vaginal septum9.4DMD, MYH7, TTN
38baraitser-winter syndrome 29.4DMD, GAA, SEPN1
39autoimmune disease of skin and connective tissue9.4DMD, MYH7, TTN
40ectodermal dysplasia9.3DMD, MYH7, TTN
41cardiovascular disease risk factor )9.3DMD, MYH7, TTN
42usher syndrome9.2DMD, TTN
43microcephaly and chorioretinopathy 19.2ACTA1, DMD, MYH7, SEPN1
44epilepsy, generalized, with febrile seizures plus, type 19.0DMD, GAA, MYH7, SEPN1
45muscular dystrophy, rigid spine, 17.6ACTA1, DMD, GAA, MDCMP, MYH7, SEPN1

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

UMLS symptoms related to Muscular Dystrophy, Rigid Spine, 1:


facial paresis, generalized muscle weakness

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 Eichsfeld Type Congenital Muscular Dystrophy25
2 Sepn1-Related Myopathy23 SEPN1

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

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MalaCards organs/tissues related to Muscular Dystrophy, Rigid Spine, 1:

34
Testes

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7ACTA1, DMD, GAA, SEPN1, TTN
2MP:00053697.0ACTA1, DMD, GAA, MYH7, SEPN1, TTN

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:

68
id Symbol AA change Variation ID SNP ID
1SEPN1p.Gly273GluVAR_019635rs121908182
2SEPN1p.His293ArgVAR_019636rs776738184
3SEPN1p.Gly315SerVAR_019637rs121908188
4SEPN1p.Asn340IleVAR_019638rs749911126
5SEPN1p.Trp453SerVAR_019639rs121908186
6SEPN1p.Sec462GlyVAR_019640rs121908187
7SEPN1p.Arg466GlnVAR_019641rs121908185
8SEPN1p.Gly463ValVAR_058462
9SEPN1p.Arg469GlnVAR_058463
10SEPN1p.Arg469TrpVAR_058464rs756927098

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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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
1muscle myosin complexGO:000585910.0MYH7, TTN
2sarcomereGO:003001710.0ACTA1, MYH7
3stress fiberGO:00017259.8ACTA1, MYH7
4filopodiumGO:00301759.2ACTA1, DMD
5myofibrilGO:00300168.9DMD, MYH7
6Z discGO:00300188.7DMD, MYH7, TTN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle thin filament assemblyGO:003024010.0ACTA1, TTN
2skeletal muscle fiber developmentGO:00487419.9ACTA1, SEPN1
3regulation of the force of heart contractionGO:00020269.7GAA, MYH7
4striated muscle contractionGO:00069419.3GAA, MYH7, TTN
5regulation of heart rateGO:00020279.2DMD, MYH7
6regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.2DMD, SEPN1
7muscle cell cellular homeostasisGO:00467169.1DMD, GAA
8muscle contractionGO:00069368.8ACTA1, MYH7, TTN
9muscle filament slidingGO:00300498.4ACTA1, DMD, MYH7, TTN
10cardiac muscle contractionGO:00600488.2DMD, GAA, MYH7, TTN

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.2ACTA1, DMD
2myosin bindingGO:00170229.1ACTA1, DMD
3structural constituent of muscleGO:00083078.8DMD, TTN

Sources for Muscular Dystrophy, Rigid Spine, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet