MCID: MSC051
MIFTS: 43

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:
2CDC, 12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Muscular Dystrophy, Rigid Spine, 1 51 12
Rigid Spine Syndrome 47 53 69 49
Rss 47 69 2
Congenital Muscular Dystrophy Eichsfeld Type 69 26
Rigid Spine Muscular Dystrophy 1 51 69
Mdrs1 47 69
Rsmd1 47 69
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 47
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 69
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 69
Desmin-Related Myopathy with Mallory Body-Like Inclusions 53
Desmin-Related Myopathies with Mallory Bodies 47
Eichsfeld Type Congenital Muscular Dystrophy 67
Desmin-Related Myopathy with Mallory Bodies 69
 
Multiminicore Disease, Severe Classic Form 47
Multiminicore Disease Severe Classic Form 69
Rigid Spine Congenital Muscular Dystrophy 53
Multicore Myopathy, Severe Classic Form 47
Multicore Myopathy Severe Classic Form 69
Minicore Myopathy, Severe Classic Form 47
Minicore Myopathy Severe Classic Form 69
Early-Onset Desmin-Related Myopathy 53
Rigid Spine Muscular Dystrophy-1 47
Classic Multiminicore Myopathy 53
Classic Multiminicore Disease 53
Sepn1-Related Myopathy 69
Classic Mmd 53

Characteristics:

Orphanet epidemiological data:

53
rigid spine syndrome:
Age of onset: Infancy,Neonatal

HPO:

63
muscular dystrophy, rigid spine, 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, nonprogressive

Classifications:



External Ids:

OMIM51 602771
ICD10 via Orphanet30 G71.2, G71.8
MESH via Orphanet39 C535683
MedGen36 C0410180
MeSH38 D020914

Summaries for Muscular Dystrophy, Rigid Spine, 1

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OMIM:51 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 high palate, muscular hypotonia and motor delay. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SELENON (Selenoprotein N), and among its related pathways are RhoGDI Pathway and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include testes, and related mouse phenotype muscle.

UniProtKB/Swiss-Prot:69 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome12.0
2robinow-sorauf syndrome11.4
3selenon-related multiminicore disease11.0
4selenon-related myopathy11.0
5myopathy, myofibrillar, 110.8
6symmastia10.2MYH7, TTN
7autoimmune thyroid disease 210.2MYH7, TTN
8myopathy, congenital, with fiber-type disproportion10.1ACTA1, MYH7
9myopathy10.1
10muscular dystrophy10.1
11cardiomyopathy, familial hypertrophic10.0MYH7, TTN
12respiratory failure9.9
13myopathy, lactic acidosis, and sideroblastic anemia9.9DMD, TTN
14cardiomyopathy9.8
15extraosseous ewing's sarcoma9.7ACTA1, MYH7, TTN
16occupational dermatitis9.7DMD, TTN
17cubitus valgus with mental retardation and unusual facies9.7DMD, GAA
18scoliosis9.7
19reducing body myopathy9.7
20congenital myopathy9.7
21emery-dreifuss muscular dystrophy9.7
22cervicitis9.7
23nemaline myopathy9.7
24cerebritis9.7
25dysferlinopathy9.7
26emerinopathy9.7
27muscular dystrophy, congenital9.6DMD, MDCMP
28baraitser-winter syndrome 29.6DMD, GAA
29adams-oliver syndrome 29.6DMD, TTN
30longitudinal vaginal septum9.5DMD, MYH7, TTN
31autoimmune disease of skin and connective tissue9.5DMD, MYH7, TTN
32usher syndrome9.5DMD, TTN
33cataract 16, multiple types9.5ACTA1, DMD, MYH7
34microcephaly and chorioretinopathy 19.5ACTA1, DMD, MYH7
35ectodermal dysplasia9.5DMD, MYH7, TTN
36cardiovascular disease risk factor )9.4DMD, MYH7, TTN
37epilepsy, generalized, with febrile seizures plus, type 19.4DMD, GAA, MYH7
38immunodeficiency 34, mycobacteriosis, x-linked9.3DMD, TTN

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

Human phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

 63 (show all 23)
id Description HPO Frequency HPO Source Accession
1 high palate63 HP:0000218
2 muscular hypotonia63 HP:0001252
3 motor delay63 HP:0001270
4 flexion contracture63 HP:0001371
5 failure to thrive63 HP:0001508
6 abnormality of the rib cage63 HP:0001547
7 nasal speech63 HP:0001611
8 high pitched voice63 HP:0001620
9 restrictive deficit on pulmonary function testing63 HP:0002111
10 poor head control63 HP:0002421
11 scoliosis63 HP:0002650
12 reduced vital capacity63 HP:0002792
13 nocturnal hypoventilation63 HP:0002877
14 spinal rigidity63 HP:0003306
15 generalized muscle weakness63 HP:0003324
16 axial muscle weakness63 HP:0003327
17 increased variability in muscle fiber diameter63 HP:0003557
18 muscular dystrophy63 HP:0003560
19 generalized amyotrophy63 HP:0003700
20 type 1 and type 2 muscle fiber minicore regions63 HP:0003787
21 short stature63 HP:0004322
22 limited neck flexion63 HP:0005991
23 facial palsy63 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
1Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Dystrophy26

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6ACTA1, DMD, GAA, MYH7, 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:

69
id Symbol AA change Variation ID SNP ID
1SELENONp.Gly273GluVAR_019635rs121908182
2SELENONp.His293ArgVAR_019636rs776738184
3SELENONp.Gly315SerVAR_019637rs121908188
4SELENONp.Asn340IleVAR_019638rs749911126
5SELENONp.Trp453SerVAR_019639rs121908186
6SELENONp.Sec462GlyVAR_019640rs121908187
7SELENONp.Arg466GlnVAR_019641rs121908185
8SELENONp.Gly463ValVAR_058462
9SELENONp.Arg469GlnVAR_058463
10SELENONp.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
1SELENONNM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs)duplicationPathogenicrs797044620GRCh37Chr 1, 26126765: 26126793
2SELENONNM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs)duplicationPathogenicrs797044621GRCh37Chr 1, 26126734: 26126743
3SELENONNM_020451.2(SELENON): c.872+2T> CSNVPathogenicrs794727808GRCh37Chr 1, 26135643: 26135643
4SELENONNM_020451.2(SELENON): c.1096G> T (p.Glu366Ter)SNVPathogenicrs794727976GRCh37Chr 1, 26138185: 26138185
5SELENONNM_020451.2(SELENON): c.818G> A (p.Gly273Glu)SNVPathogenicrs121908182GRCh37Chr 1, 26135587: 26135587
6SELENONNM_020451.2(SEPN1): c.1385G> A (p.Sec462=)SNVPathogenicrs587776597GRCh37Chr 1, 26139281: 26139281
7SELENONNM_020451.2(SELENON): c.1A> G (p.Met1Val)SNVPathogenicrs121908184GRCh37Chr 1, 26126722: 26126722
8SELENONNM_020451.2(SELENON): c.1397G> A (p.Arg466Gln)SNVPathogenicrs121908185GRCh37Chr 1, 26140381: 26140381
9SELENONNM_020451.2(SELENON): c.1358G> C (p.Trp453Ser)SNVPathogenicrs121908186GRCh37Chr 1, 26139254: 26139254
10SELENONNM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs)duplicationPathogenicrs368104077GRCh38Chr 1, 25808755: 25808755
11SELENONNM_020451.2(SELENON): c.1384T> G (p.Sec462Gly)SNVPathogenicrs121908187GRCh37Chr 1, 26139280: 26139280
12SELENONNM_020451.2(SELENON): c.943G> A (p.Gly315Ser)SNVPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244
13SELENONSEPN1, 92-BP DELdeletionPathogenicChr na, -1: -1
14SELENONNM_020451.2(SELENON): c.1315C> T (p.Arg439Ter)SNVPathogenicrs377215510GRCh37Chr 1, 26139211: 26139211
15SELENONNM_020451.2(SELENON): c.301+1G> TSNVPathogenicrs398124360GRCh37Chr 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
1
Show member pathways
9.5ACTA1, MYH7
29.1ACTA1, DMD
38.7ACTA1, DMD, TTN

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:000585910.1MYH7, TTN
2sarcomereGO:00300179.9ACTA1, MYH7
3stress fiberGO:00017259.7ACTA1, MYH7
4myofibrilGO:00300169.2DMD, MYH7
5filopodiumGO:00301759.1ACTA1, DMD
6Z discGO:00300188.5DMD, MYH7, TTN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle thin filament assemblyGO:003024010.0ACTA1, TTN
2regulation of the force of heart contractionGO:00020269.7GAA, MYH7
3striated muscle contractionGO:00069419.4GAA, MYH7, TTN
4regulation of heart rateGO:00020279.2DMD, MYH7
5muscle cell cellular homeostasisGO:00467169.1DMD, GAA
6muscle contractionGO:00069368.8ACTA1, MYH7, TTN
7muscle filament slidingGO:00300498.3ACTA1, DMD, MYH7, TTN
8cardiac muscle contractionGO:00600488.1DMD, 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:00052009.1ACTA1, DMD
2structural constituent of muscleGO:00083079.1DMD, TTN
3myosin bindingGO:00170228.8ACTA1, DMD

Sources for Muscular Dystrophy, Rigid Spine, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet