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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Muscular Dystrophy, Rigid Spine, 1 52 12
Rigid Spine Syndrome 48 54 70 50
Rss 48 70 2
Congenital Muscular Dystrophy Eichsfeld Type 70 27
Rigid Spine Muscular Dystrophy 1 52 70
Mdrs1 48 70
Rsmd1 48 70
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 48
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 70
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 70
Desmin-Related Myopathy with Mallory Body-Like Inclusions 54
Desmin-Related Myopathies with Mallory Bodies 48
Eichsfeld Type Congenital Muscular Dystrophy 68
Desmin-Related Myopathy with Mallory Bodies 70
 
Multiminicore Disease, Severe Classic Form 48
Multiminicore Disease Severe Classic Form 70
Rigid Spine Congenital Muscular Dystrophy 54
Multicore Myopathy, Severe Classic Form 48
Multicore Myopathy Severe Classic Form 70
Minicore Myopathy, Severe Classic Form 48
Minicore Myopathy Severe Classic Form 70
Early-Onset Desmin-Related Myopathy 54
Rigid Spine Muscular Dystrophy-1 48
Classic Multiminicore Myopathy 54
Classic Multiminicore Disease 54
Sepn1-Related Myopathy 70
Classic Mmd 54

Characteristics:

Orphanet epidemiological data:

54
rigid spine syndrome:
Age of onset: Infancy,Neonatal

HPO:

64
muscular dystrophy, rigid spine, 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, nonprogressive

Classifications:



External Ids:

OMIM52 602771
ICD10 via Orphanet31 G71.2, G71.8
MESH via Orphanet40 C535683
MedGen37 C0410180
MeSH39 D020914

Summaries for Muscular Dystrophy, Rigid Spine, 1

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 23)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 muscular hypotonia64 HP:0001252
3 motor delay64 HP:0001270
4 flexion contracture64 HP:0001371
5 failure to thrive64 HP:0001508
6 abnormality of the rib cage64 HP:0001547
7 nasal speech64 HP:0001611
8 high pitched voice64 HP:0001620
9 restrictive deficit on pulmonary function testing64 HP:0002111
10 poor head control64 HP:0002421
11 scoliosis64 HP:0002650
12 reduced vital capacity64 HP:0002792
13 nocturnal hypoventilation64 HP:0002877
14 spinal rigidity64 HP:0003306
15 generalized muscle weakness64 HP:0003324
16 axial muscle weakness64 HP:0003327
17 increased variability in muscle fiber diameter64 HP:0003557
18 muscular dystrophy64 HP:0003560
19 generalized amyotrophy64 HP:0003700
20 type 1 and type 2 muscle fiber minicore regions64 HP:0003787
21 short stature64 HP:0004322
22 limited neck flexion64 HP:0005991
23 facial palsy64 HP:0010628

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


facial paresis, generalized muscle weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6ACTA1, DMD, GAA, MYH7, TTN

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 Dystrophy27

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

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

36
Testes

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:

70
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:000585910.2MYH7, TTN
2sarcomereGO:003001710.1ACTA1, MYH7
3stress fiberGO:000172510.1ACTA1, MYH7
4myofibrilGO:00300169.8DMD, MYH7
5filopodiumGO:00301759.7ACTA1, DMD
6Z discGO:00300188.8DMD, 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:00302409.8ACTA1, TTN
2regulation of the force of heart contractionGO:00020269.8GAA, MYH7
3regulation of heart rateGO:00020279.7DMD, MYH7
4muscle cell cellular homeostasisGO:00467169.6DMD, GAA
5muscle contractionGO:00069369.6ACTA1, MYH7, TTN
6striated muscle contractionGO:00069419.0GAA, MYH7, TTN
7cardiac muscle contractionGO:00600488.8DMD, GAA, MYH7, TTN
8muscle filament slidingGO:00300498.8ACTA1, DMD, MYH7, TTN

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.7ACTA1, DMD
2structural constituent of cytoskeletonGO:00052009.6ACTA1, DMD
3structural constituent of muscleGO:00083079.2DMD, TTN

Sources for Muscular Dystrophy, Rigid Spine, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet