RSMD1
MCID: MSC051
MIFTS: 45

Muscular Dystrophy, Rigid Spine, 1 (RSMD1) malady

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

Aliases & Classifications for Muscular Dystrophy, Rigid Spine, 1

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Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 30ICD10, 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 11 48 54 70 50 39
Rigid Spine Muscular Dystrophy 1 52 11 70 13
Rss 11 48 70 2
Rsmd1 11 48 70
Mdrs1 11 48 70
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 11 70
Desmin-Related Myopathy with Mallory Body-Like Inclusions 11 54
Eichsfeld Type Congenital Muscular Dystrophy 11 68
Congenital Muscular Dystrophy Eichsfeld Type 70 27
Desmin-Related Myopathy with Mallory Bodies 11 70
Early-Onset Desmin-Related Myopathy 11 54
Classic Multiminicore Myopathy 11 54
Classic Multiminicore Disease 11 54
Sepn1-Related Myopathy 11 70
 
Classic Mmd 11 54
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 48
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 70
Desmin-Related Myopathies with Mallory Bodies 48
Multiminicore Disease, Severe Classic Form 48
Multiminicore Disease Severe Classic Form 70
Rigid Spine Congenital Muscular Dystrophy 54
Severe Classic Form Multiminicore Disease 11
Multicore Myopathy, Severe Classic Form 48
Minicore Myopathy, Severe Classic Form 48
Multicore Myopathy Severe Classic Form 70
Severe Classic Form Multicore Myopathy 11
Minicore Myopathy Severe Classic Form 70
Severe Classic Form Minicore Myopathy 11
Rigid Spine Muscular Dystrophy-1 48

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
Disease Ontology11 DOID:0110633
ICD1030 G71.2, G71.8
ICD10 via Orphanet31 G71.2, G71.8
MESH via Orphanet40 C535683
MedGen37 C0410180

Summaries for Muscular Dystrophy, Rigid Spine, 1

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Disease Ontology:11 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has material basis in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.

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 SELENON (Selenoprotein N), and among its related pathways are Striated Muscle Contraction and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include testes, and related mouse phenotype muscle.

OMIM:52 Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined... (602771) more...

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 45)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome12.0
2robinow-sorauf syndrome11.4
3selenon-related multiminicore disease11.1
4selenon-related myopathy11.1
5autosomal recessive nonsyndromic deafness 4710.3DMD, LAMA2
6myopathy, congenital, with fiber-type disproportion10.3ACTA1, MYH7, SELENON
7hypertonia10.3ACTA1, FHL1
8lumbar malsegmentation short stature10.3DMD, DYSF
9myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.3ACTA1, DMD, MYH7
10adrenal cortex disease10.3DYSF, SELENON
11cardiomyopathy, dilated, 1aa, with or without lvnc10.3DMD, LAMA2
12microcephaly and chorioretinopathy 110.3ACTA1, DMD, MYH7
13congenital myopathy10.3DMD, FHL1, TTN
14pervasive developmental disorder10.3DMD, MYH7, TTN
15cubitus valgus with mental retardation and unusual facies10.3DMD, GAA, LAMA2
16nonsyndromic hearing loss and deafness, mitochondrial10.3DMD, FHL1, TTN
17congenital heart defects, multiple types, 310.2DYSF, TTN
18myopathy, distal, with anterior tibial onset10.2DMD, DYSF, TTN
19primary cutaneous gamma/delta-positive t-cell lymphoma10.2DMD, MYH7, TTN
20myelofibrosis10.2COL6A2, SELENON, TTN
21charcot-marie-tooth disease, type 2b210.2DYSF, LAMA2, TTN
22autosomal recessive limb-girdle muscular dystrophy type 2h10.2DMD, DYSF, TTN
23dowling-degos disease10.2ACTA1, FHL1, MYH7, SELENON
24sudden infant death with dysgenesis of the testes syndrome10.2DMD, LAMA2
25thrombocytopenia, x-linked10.2DMD, DYSF, LAMA2
26phototoxic dermatitis10.2DMD, GAA, LAMA2, TTN
27parametrium malignant neoplasm10.2DMD, FHL1, LAMA2
28lyme disease10.2DMD, DYSF, MYH7, TTN
29long qt syndrome 910.2FHL1, GAA, MYH7, TTN
30anogenital venereal wart10.2GAA, LAMA2, TTN
31pancreatic agenesis 110.2DMD, DYSF
32cerebral angioma10.1DMD, DYSF, LAMA2, SELENON
33vulvar eccrine adenocarcinoma10.1DMD, DYSF, TTN
34autosomal dominant limb-girdle muscular dystrophy type 1c10.1DYSF, TTN
35bamforth-lazarus syndrome10.1RSPH1, RSPH3, RSPH4A
36microcephaly and chorioretinopathy 210.1ACTA1, DMD, DYSF, MYH7, SELENON
37dystonia 2710.1COL6A2, FKBP14, LAMA2, MDCMP
38myopathy10.1
39keratopathy10.1RSPH1, RSPH3, RSPH4A
40ullrich congenital muscular dystrophy 110.1COL6A2, DMD, DYSF, LAMA2
41muscular dystrophy, limb-girdle, type 1b10.1COL6A2, DMD, LAMA2, MDCMP, SELENON
42creatine phosphokinase, elevated serum10.0DYSF, TTN
43central corneal ulcer10.0COL6A2, DMD, DYSF, LAMA2, SELENON
44spindle cell sarcoma9.9ACTA1, COL6A2, DYSF, FHL1, MYH7, SELENON
45muscular dystrophy9.9

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:00053698.5ACTA1, DMD, DYSF, FHL1, GAA, LAMA2

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


Cochrane evidence based reviews: rigid spine syndrome

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 DELdeletionPathogenic
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
19.9ACTA1, DMD, TTN
29.8ACTA1, DMD, LAMA2
3
Show member pathways
9.7DMD, LAMA2, MYH7, 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:000585910.7MYH7, TTN
2sarcolemmaGO:00423839.9COL6A2, DMD, DYSF, LAMA2
3Z discGO:00300189.9DMD, MYH7, TTN

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:004671610.7DMD, GAA
2regulation of ryanodine-sensitive calcium-release channel activityGO:006031410.6DMD, SELENON
3regulation of the force of heart contractionGO:000202610.5GAA, MYH7
4skeletal muscle thin filament assemblyGO:003024010.5ACTA1, TTN
5skeletal muscle tissue regenerationGO:004340310.5DMD, SELENON
6axoneme assemblyGO:003508210.4RSPH1, RSPH4A
7cardiac muscle contractionGO:006004810.3DMD, GAA, MYH7, TTN
8nucleus localizationGO:005164710.3DMD, PABPC1L
9muscle organ developmentGO:000751710.3DMD, FHL1, LAMA2
10muscle filament slidingGO:003004910.3ACTA1, DMD, MYH7, TTN
11muscle contractionGO:000693610.2ACTA1, DYSF, MYH7, TTN
12striated muscle contractionGO:00069419.9GAA, MYH7, TTN

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.1ACTA1, DMD

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