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

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

Name: Muscular Dystrophy, Rigid Spine, 1 54 13
Rigid Spine Syndrome 12 50 56 66 52 42
Rigid Spine Muscular Dystrophy 1 54 12 66 14
Rss 12 50 66 3
Mdrs1 12 50 66
Rsmd1 12 50 66
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 66
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 56
Eichsfeld Type Congenital Muscular Dystrophy 12 69
Congenital Muscular Dystrophy Eichsfeld Type 66 29
Desmin-Related Myopathy with Mallory Bodies 12 66
Early-Onset Desmin-Related Myopathy 12 56
Classic Multiminicore Myopathy 12 56
Classic Multiminicore Disease 12 56
Sepn1-Related Myopathy 12 66
Classic Mmd 12 56
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 50
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 66
Desmin-Related Myopathies with Mallory Bodies 50
Multiminicore Disease, Severe Classic Form 50
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 56
Multiminicore Disease Severe Classic Form 66
Multicore Myopathy, Severe Classic Form 50
Severe Classic Form Multicore Myopathy 12
Minicore Myopathy, Severe Classic Form 50
Multicore Myopathy Severe Classic Form 66
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 66
Rigid Spine Muscular Dystrophy-1 50

Characteristics:

Orphanet epidemiological data:

56
rigid spine syndrome
Age of onset: Infancy,Neonatal;

HPO:

32
muscular dystrophy, rigid spine, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 602771
Disease Ontology 12 DOID:0110633
ICD10 33 G71.2 G71.8
ICD10 via Orphanet 34 G71.2 G71.8
MESH via Orphanet 43 C535683
MedGen 40 C0410180

Summaries for Muscular Dystrophy, Rigid Spine, 1

Disease Ontology : 12 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 generalized muscle weakness, high palate and muscular hypotonia. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Dilated cardiomyopathy and Striated Muscle Contraction. Affiliated tissues include testes, and related phenotype is muscle.

OMIM : 54 Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined... (602771) more...

UniProtKB/Swiss-Prot : 66 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

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.0
2 robinow-sorauf syndrome 11.4
3 selenon-related multiminicore disease 11.1
4 selenon-related myopathy 11.1
5 autosomal recessive nonsyndromic deafness 47 10.3 DMD LAMA2
6 myopathy, congenital, with fiber-type disproportion 10.3 ACTA1 MYH7 SELENON
7 hypertonia 10.3 ACTA1 FHL1
8 lumbar malsegmentation short stature 10.3 DMD DYSF
9 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.3 ACTA1 DMD MYH7
10 adrenal cortex disease 10.3 DYSF SELENON
11 cardiomyopathy, dilated, 1aa, with or without lvnc 10.3 DMD LAMA2
12 microcephaly and chorioretinopathy 1 10.3 ACTA1 DMD MYH7
13 congenital myopathy 10.3 DMD FHL1 TTN
14 pervasive developmental disorder 10.3 DMD MYH7 TTN
15 cubitus valgus with mental retardation and unusual facies 10.3 DMD GAA LAMA2
16 nonsyndromic hearing loss and deafness, mitochondrial 10.3 DMD FHL1 TTN
17 congenital heart defects, multiple types, 3 10.2 DYSF TTN
18 myopathy, distal, with anterior tibial onset 10.2 DMD DYSF TTN
19 primary cutaneous gamma/delta-positive t-cell lymphoma 10.2 DMD MYH7 TTN
20 myelofibrosis 10.2 COL6A2 SELENON TTN
21 charcot-marie-tooth disease, type 2b2 10.2 DYSF LAMA2 TTN
22 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 DMD DYSF TTN
23 dowling-degos disease 10.2 ACTA1 FHL1 MYH7 SELENON
24 sudden infant death with dysgenesis of the testes syndrome 10.2 DMD LAMA2
25 thrombocytopenia, x-linked 10.2 DMD DYSF LAMA2
26 phototoxic dermatitis 10.2 DMD GAA LAMA2 TTN
27 parametrium malignant neoplasm 10.2 DMD FHL1 LAMA2
28 lyme disease 10.2 DMD DYSF MYH7 TTN
29 long qt syndrome 9 10.2 FHL1 GAA MYH7 TTN
30 anogenital venereal wart 10.2 GAA LAMA2 TTN
31 pancreatic agenesis 1 10.2 DMD DYSF
32 cerebral angioma 10.1 DMD DYSF LAMA2 SELENON
33 vulvar eccrine adenocarcinoma 10.1 DMD DYSF TTN
34 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF TTN
35 bamforth-lazarus syndrome 10.1 RSPH1 RSPH3 RSPH4A
36 microcephaly and chorioretinopathy 2 10.1 ACTA1 DMD DYSF MYH7 SELENON
37 dystonia 27 10.1 COL6A2 FKBP14 LAMA2 MDCMP
38 myopathy 10.1
39 keratopathy 10.1 RSPH1 RSPH3 RSPH4A
40 ullrich congenital muscular dystrophy 1 10.1 COL6A2 DMD DYSF LAMA2
41 muscular dystrophy, limb-girdle, type 1b 10.1 COL6A2 DMD LAMA2 MDCMP SELENON
42 creatine phosphokinase, elevated serum 10.0 DYSF TTN
43 central corneal ulcer 10.0 COL6A2 DMD DYSF LAMA2 SELENON
44 spindle cell sarcoma 9.9 ACTA1 COL6A2 DYSF FHL1 MYH7 SELENON
45 muscular dystrophy 9.9

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

Symptoms by clinical synopsis from OMIM:

602771

Clinical features from OMIM:

602771

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

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 generalized muscle weakness 32 HP:0003324
2 high palate 32 HP:0000218
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 scoliosis 32 HP:0002650
6 facial palsy 32 HP:0010628
7 short stature 32 HP:0004322
8 flexion contracture 32 HP:0001371
9 nasal speech 32 HP:0001611
10 spinal rigidity 32 HP:0003306
11 high pitched voice 32 HP:0001620
12 motor delay 32 HP:0001270
13 muscular dystrophy 32 HP:0003560
14 poor head control 32 HP:0002421
15 generalized amyotrophy 32 HP:0003700
16 increased variability in muscle fiber diameter 32 HP:0003557
17 axial muscle weakness 32 HP:0003327
18 limited neck flexion 32 HP:0005991
19 abnormality of the rib cage 32 HP:0001547
20 restrictive deficit on pulmonary function testing 32 HP:0002111
21 nocturnal hypoventilation 32 HP:0002877
22 type 1 and type 2 muscle fiber minicore regions 32 HP:0003787
23 reduced vital capacity 32 HP:0002792

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


facial paresis, generalized muscle weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 LAMA2 MYH7 SELENON TTN ACTA1 DMD

Drugs & Therapeutics for Muscular Dystrophy, Rigid Spine, 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

Genetic tests related to Muscular Dystrophy, Rigid Spine, 1:

id Genetic test Affiliating Genes
1 Eichsfeld Type Congenital Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

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

39
Testes

Publications for Muscular Dystrophy, Rigid Spine, 1

Variations for Muscular Dystrophy, Rigid Spine, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

66
id Symbol AA change Variation ID SNP ID
1 SELENON p.Gly273Glu VAR_019635 rs121908182
2 SELENON p.His293Arg VAR_019636 rs776738184
3 SELENON p.Gly315Ser VAR_019637 rs121908188
4 SELENON p.Asn340Ile VAR_019638 rs749911126
5 SELENON p.Trp453Ser VAR_019639 rs121908186
6 SELENON p.Sec462Gly VAR_019640 rs121908187
7 SELENON p.Arg466Gln VAR_019641 rs121908185
8 SELENON p.Gly463Val VAR_058462
9 SELENON p.Arg469Gln VAR_058463
10 SELENON p.Arg469Trp VAR_058464 rs756927098

ClinVar genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh37 Chromosome 1, 26135587: 26135587
2 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh37 Chromosome 1, 26139281: 26139281
3 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh37 Chromosome 1, 26126722: 26126722
4 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic rs121908185 GRCh37 Chromosome 1, 26140381: 26140381
5 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh37 Chromosome 1, 26139254: 26139254
6 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
7 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh37 Chromosome 1, 26139280: 26139280
8 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
9 SELENON SEPN1, 92-BP DEL deletion Pathogenic
10 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh37 Chromosome 1, 26139211: 26139211
11 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh37 Chromosome 1, 26127652: 26127652
12 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh37 Chromosome 1, 26126765: 26126793
13 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh37 Chromosome 1, 26126734: 26126743
14 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh37 Chromosome 1, 26135643: 26135643
15 SELENON NM_020451.2(SELENON): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs794727976 GRCh37 Chromosome 1, 26138185: 26138185

Expression for Muscular Dystrophy, Rigid Spine, 1

Search GEO for disease gene expression data for Muscular Dystrophy, Rigid Spine, 1.

Pathways for Muscular Dystrophy, Rigid Spine, 1

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 DMD LAMA2 MYH7 TTN
2 11.19 ACTA1 DMD TTN
3 10.08 ACTA1 DMD LAMA2

GO Terms for Muscular Dystrophy, Rigid Spine, 1

Cellular components related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 9.16 MYH7 TTN
2 Z disc GO:0030018 9.13 DMD MYH7 TTN
3 sarcolemma GO:0042383 8.92 COL6A2 DMD DYSF LAMA2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.58 DMD FHL1 LAMA2
2 muscle contraction GO:0006936 9.56 ACTA1 DYSF MYH7 TTN
3 skeletal muscle tissue regeneration GO:0043403 9.51 DMD SELENON
4 regulation of the force of heart contraction GO:0002026 9.49 GAA MYH7
5 muscle cell cellular homeostasis GO:0046716 9.48 DMD GAA
6 axoneme assembly GO:0035082 9.46 RSPH1 RSPH4A
7 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.43 DMD SELENON
8 nucleus localization GO:0051647 9.37 DMD PABPC1L
9 striated muscle contraction GO:0006941 9.33 GAA MYH7 TTN
10 skeletal muscle thin filament assembly GO:0030240 9.32 ACTA1 TTN
11 cardiac muscle contraction GO:0060048 9.26 DMD GAA MYH7 TTN
12 muscle filament sliding GO:0030049 8.92 ACTA1 DMD MYH7 TTN

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

id Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 8.62 ACTA1 DMD

Sources for Muscular Dystrophy, Rigid Spine, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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