RSMD1
MCID: RGD003
MIFTS: 59

Rigid Spine Muscular Dystrophy 1 (RSMD1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Rigid Spine Muscular Dystrophy 1

MalaCards integrated aliases for Rigid Spine Muscular Dystrophy 1:

Name: Rigid Spine Muscular Dystrophy 1 57 11 73 14
Rigid Spine Syndrome 57 11 19 58 73 53 43
Eichsfeld Type Congenital Muscular Dystrophy 11 28 5 71
Rsmd1 57 11 19 73
Mdrs1 57 11 19 73
Rss 57 11 19 73
Desmin-Related Myopathy with Mallory Bodies 57 11 73
Classic Multiminicore Myopathy 11 58 5
Sepn1-Related Myopathy 11 19 73
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 11 73
Desmin-Related Myopathy with Mallory Body-Like Inclusions 11 58
Multiminicore Disease, Severe Classic Form 57 19
Multicore Myopathy, Severe Classic Form 57 19
Minicore Myopathy, Severe Classic Form 57 19
Early-Onset Desmin-Related Myopathy 11 58
Muscular Dystrophy, Rigid Spine, 1 57 12
Classic Multiminicore Disease 11 58
Classic Mmd 11 58
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 57
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 19
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 73
Muscular Dystrophy, Congenital, Eichsfeld Type 57
Desmin-Related Myopathies with Mallory Bodies 19
Congenital Muscular Dystrophy Eichsfeld Type 73
Severe Classic Form Multiminicore Disease 11
Rigid Spine Congenital Muscular Dystrophy 58
Multiminicore Disease Severe Classic Form 73
Dystrophy, Muscular, Rigid Spine, Type 1 38
Severe Classic Form Multicore Myopathy 11
Multicore Myopathy Severe Classic Form 73
Severe Classic Form Minicore Myopathy 11
Minicore Myopathy Severe Classic Form 73
Rigid Spine Muscular Dystrophy-1 19
Myopathy, Sepn1-Related 57

Characteristics:


Inheritance:

Rigid Spine Muscular Dystrophy 1: Autosomal recessive 57
Desmin-Related Myopathy with Mallory Body-Like Inclusions: Autosomal recessive 58
Rigid Spine Syndrome: Autosomal recessive 58

Prevelance:

Desmin-Related Myopathy with Mallory Body-Like Inclusions: <1/1000000 (Worldwide) 58

Age Of Onset:

Desmin-Related Myopathy with Mallory Body-Like Inclusions: Infancy,Neonatal 58
Rigid Spine Syndrome: Infancy,Neonatal 58

Age Of Death:

Desmin-Related Myopathy with Mallory Body-Like Inclusions: late childhood,young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
death before adulthood due to respiratory failure (in some patients)


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rigid Spine Muscular Dystrophy 1

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: Rigid Spine Muscular Dystrophy 1, also known as rigid spine syndrome, is related to rigid spine muscular dystrophy and muscular dystrophy, congenital, lmna-related, and has symptoms including facial paresis and generalized muscle weakness. An important gene associated with Rigid Spine Muscular Dystrophy 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. Affiliated tissues include bone, skeletal muscle and heart, and related phenotypes are scoliosis and respiratory insufficiency

GARD: 19 Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with 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.

Orphanet: 58 Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with 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.

OMIM®: 57 Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004). For other forms of DRM, see primary desminopathy (601419). (602771) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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 Rigid Spine Muscular Dystrophy 1

Diseases in the Rigid Spine Muscular Dystrophy family:

Rigid Spine Muscular Dystrophy 1

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

(show top 50) (show all 220)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 31.2 SELENON ACTA1
2 muscular dystrophy, congenital, lmna-related 30.8 TTN SELENON RYR1 MYOT MYH7 LMNA
3 myopathy, myofibrillar, 1 30.8 TTN SELENON MYOT LMNA DYSF DMD
4 scoliosis 30.6 TTN SELENON RYR1 FHL1 DMD
5 glycogen storage disease ii 30.5 MYOT LAMA2 GAA FKRP DYSF DMD
6 emery-dreifuss muscular dystrophy 30.5 TTN MYOT LMNA LAMA2 FKRP FHL1
7 dysferlinopathy 30.5 DYSF CAPN3
8 myopathy, x-linked, with postural muscle atrophy 30.4 MYOT LMNA FHL1
9 scapuloperoneal myopathy 30.4 MYOT MYH7 FHL1 ACTA1
10 multiminicore disease 30.4 TTN SELENON SECISBP2 RYR1 MYOT MYH7
11 respiratory failure 30.4 TTN SELENON RYR1 MYH7 LAMA2 GAA
12 left bundle branch hemiblock 30.3 TTN LMNA
13 hypertrophic cardiomyopathy 30.3 TTN RYR1 MYOT MYH7 LMNA GAA
14 atrial standstill 1 30.3 MYOT MYH7 LMNA GAA DMD
15 myositis 30.2 TTN RYR1 DYSF DMD CAPN3
16 batten-turner congenital myopathy 30.2 TTN SELENON RYR1 MYOT MYH7 MDCMP
17 malignant hyperthermia 30.2 SELENON RYR1 MYH7 LAMA2 DYSF DMD
18 cardiomyopathy, familial hypertrophic, 1 30.1 TTN SELENON RYR1 MYH7 LMNA FKTN
19 cardiac conduction defect 30.0 MYH7 LMNA
20 distal arthrogryposis 29.9 TTN SELENON RYR1 MYH7 LMNA LAMA2
21 muscular dystrophy 29.6 TTN SELENON RYR1 MYOT MYH7 MDCMP
22 neuromuscular disease 29.6 TTN SELENON RYR1 MYOT MYH7 LMNA
23 muscular dystrophy, limb-girdle, autosomal recessive 2 29.6 TTN MYOT LMNA LAMA2 GAA FKTN
24 myofibrillar myopathy 29.5 TTN SELENON RYR1 MYOT MYH7 LMNA
25 limb-girdle muscular dystrophy 29.3 TTN RYR1 MYOT LMNA LAMA2 GAA
26 dilated cardiomyopathy 29.2 TTN RYR1 MYOT MYH7 LMNA LAMA2
27 myopathy 29.1 TTN SELENON RYR1 MYOT MYH7 LMNA
28 silver-russell syndrome 1 11.5
29 robinow-sorauf syndrome 11.3
30 muscular dystrophy, congenital, merosin-positive 11.1
31 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN DMD
32 congenital muscular dystrophy-dystroglycanopathy type a10 10.4 SELENON LAMA2
33 rhabdomyolysis-myalgia syndrome 10.4 SELENON RYR1
34 congenital muscular dystrophy-dystroglycanopathy type a12 10.4 SELENON FKRP
35 minicore myopathy with external ophthalmoplegia 10.4 TTN RYR1
36 foot drop 10.4 TTN FHL1 ACTA1
37 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 TTN LMNA
38 scapuloperoneal syndrome, neurogenic, kaeser type 10.4 SELENON MYOT
39 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 TTN LMNA
40 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 TTN LMNA
41 paresthesia 10.4 FKRP CAPN3
42 first-degree atrioventricular block 10.4 TTN LMNA
43 congenital muscular dystrophy without intellectual disability 10.4 FKTN FKRP
44 cdags syndrome 10.4 FKTN FKRP
45 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.4 SELENON B3GNT2
46 cardiac tuberculosis 10.4 TTN LMNA
47 cardiomyopathy, familial hypertrophic, 9 10.4 TTN B3GNT2
48 myopathy, myofibrillar, 2 10.4 TTN MYOT DMD
49 nemaline myopathy 11, autosomal recessive 10.4 MYOT B3GNT2
50 congenital muscular dystrophy-dystroglycanopathy type a11 10.4 SELENON DAG1

Graphical network of the top 20 diseases related to Rigid Spine Muscular Dystrophy 1:



Diseases related to Rigid Spine Muscular Dystrophy 1

Symptoms & Phenotypes for Rigid Spine Muscular Dystrophy 1

Human phenotypes related to Rigid Spine Muscular Dystrophy 1:

58 30 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002650
2 respiratory insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002093
3 myopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003198
4 spinal rigidity 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0003306
5 neck muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000467
6 generalized hypotonia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001290
7 congenital muscular dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003741
8 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
HP:0001508
9 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
10 hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003307
11 short stature 58 30 Very rare (1%) Frequent (79-30%)
HP:0004322
12 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
13 elbow flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002987
14 multiple joint contractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002828
15 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001265
16 high pitched voice 58 30 Frequent (33%) Frequent (79-30%)
HP:0001620
17 hip contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0003273
18 poor head control 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0002421
19 increased muscle lipid content 58 30 Frequent (33%) Frequent (79-30%)
HP:0009058
20 axial muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003327
21 generalized amyotrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003700
22 pneumonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002090
23 weakness of facial musculature 58 30 Frequent (33%) Frequent (79-30%)
HP:0030319
24 delayed gross motor development 58 30 Frequent (33%) Frequent (79-30%)
HP:0002194
25 muscle fiber atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0100295
26 limited neck flexion 58 30 Frequent (33%) Frequent (79-30%)
HP:0005991
27 cardiac conduction abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0031546
28 hamstring contractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0003089
29 abnormality on pulmonary function testing 58 30 Frequent (33%) Frequent (79-30%)
HP:0030878
30 nocturnal hypoventilation 58 30 Very rare (1%) Frequent (79-30%)
HP:0002877
31 intermittent episodes of respiratory insufficiency due to muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0004889
32 restrictive ventilatory defect 30 Frequent (33%) HP:0002091
33 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
34 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
35 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
36 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
37 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
38 waddling gait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002515
39 mitral valve prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001634
40 microretrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000308
41 gowers sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003391
42 right ventricular hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001667
43 right ventricular failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001708
44 facial palsy 30 Very rare (1%) HP:0010628
45 type 1 muscle fiber predominance 30 Very rare (1%) HP:0003803
46 increased variability in muscle fiber diameter 30 Very rare (1%) HP:0003557
47 neck flexor weakness 30 Very rare (1%) HP:0003722
48 increased endomysial connective tissue 30 Very rare (1%) HP:0100297
49 centrally nucleated skeletal muscle fibers 30 Very rare (1%) HP:0003687
50 reduced vital capacity 30 Very rare (1%) HP:0002792

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Eyes:
ophthalmoparesis
ptosis, mild (in some patients)

Muscle Soft Tissue:
poor head control
axial muscle weakness
hypotonia
muscle weakness, diffuse
generalized muscle atrophy
more
Respiratory:
reduced vital capacity
nocturnal hypoventilation
restrictive respiratory syndrome

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
facial weakness

Growth Weight:
low body weight

Voice:
nasal, high-pitched voice

Skeletal Spine:
scoliosis
spinal rigidity
limited flexion

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Head:
poor head control

Head And Neck Neck:
limited neck flexion

Neurologic Central Nervous System:
delayed motor development

Skeletal:
joint contractures

Cardiovascular Heart:
mitral valve prolapse (in some patients)
cor pulmonale (in some patients)

Chest External Features:
flat thorax

Clinical features from OMIM®:

602771 (Updated 24-Oct-2022)

UMLS symptoms related to Rigid Spine Muscular Dystrophy 1:


facial paresis; generalized muscle weakness

MGI Mouse Phenotypes related to Rigid Spine Muscular Dystrophy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ACTA1 CAPN3 DAG1 DMD DYSF FHL1
2 muscle MP:0005369 10.28 ACTA1 CAPN3 DAG1 DMD DYSF FHL1
3 growth/size/body region MP:0005378 10.2 ACTA1 B3GNT2 CAPN3 DAG1 DMD FHL1
4 normal MP:0002873 10.09 CAPN3 DAG1 DMD FKRP LMNA MYH7
5 cellular MP:0005384 9.93 B3GNT2 DAG1 DMD DYSF FKRP FKTN
6 craniofacial MP:0005382 9.8 ACTA1 B3GNT2 FKRP LAMA2 LMNA RYR1
7 behavior/neurological MP:0005386 9.8 ACTA1 B3GNT2 DAG1 DMD DYSF FHL1
8 skeleton MP:0005390 9.28 ACTA1 DMD FKRP GAA LAMA2 LMNA

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

Search Clinical Trials, NIH Clinical Center for Rigid Spine Muscular Dystrophy 1

Cochrane evidence based reviews: rigid spine syndrome

Genetic Tests for Rigid Spine Muscular Dystrophy 1

Genetic tests related to Rigid Spine Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Eichsfeld Type Congenital Muscular Dystrophy 28 SELENON

Anatomical Context for Rigid Spine Muscular Dystrophy 1

Organs/tissues related to Rigid Spine Muscular Dystrophy 1:

MalaCards : Bone, Skeletal Muscle, Heart, Trachea, Lung

Publications for Rigid Spine Muscular Dystrophy 1

Articles related to Rigid Spine Muscular Dystrophy 1:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 53 62 57 5
12192640 2002
2
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. 62 57 5
32796131 2020
3
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 62 57 5
19557870 2009
4
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 62 57 5
15122708 2004
5
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 62 57 5
11528383 2001
6
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 57 5
15668457 2005
7
A form of congenital muscular dystrophy. 57 5
7224095 1980
8
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. 53 62 57
10545040 1999
9
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. 62 5
24988964 2014
10
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 62 5
20937510 2011
11
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 62 5
19067361 2009
12
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 62 5
17951086 2008
13
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 62 5
16365872 2006
14
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 62 5
15792869 2005
15
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 62 57
10665485 2000
16
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. 62 57
9585610 1998
17
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 62 57
7919974 1994
18
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 62 57
2010758 1991
19
[Rigid-spine syndrome in a female patient (author's transl)]. 62 57
7100735 1982
20
Rigid spine syndrome in a girl. 62 57
6188813 1982
21
Rigid spine syndrome. 62 57
438838 1979
22
Rigid spine syndrome: a muscle syndrome in search of a name. 62 57
4697975 1973
23
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. 5
32403337 2020
24
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. 5
30932294 2019
25
Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies. 5
28558865 2017
26
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 5
28688748 2017
27
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 5
28357410 2017
28
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 5
27447704 2017
29
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 5
27066551 2015
30
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 5
23394784 2013
31
Active human retrotransposons: variation and disease. 5
22406018 2012
32
SEPN1-related myopathies: clinical course in a large cohort of patients. 5
21670436 2011
33
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. 5
21131290 2011
34
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 5
20307669 2010
35
The impact of retrotransposons on human genome evolution. 5
19763152 2009
36
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 5
18713863 2008
37
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
38
Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands. 57
12207939 2002
39
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 57
11079538 2000
40
Minicore myopathy in children: a clinical and histopathological study of 19 cases. 57
10838253 2000
41
50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands. 57
10712016 1997
42
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 57
7561954 1995
43
Minicore myopathy with dominant inheritance. 57
3806134 1987
44
Severe multicore disease associated with reaction to anesthesia. 57
4062619 1985
45
Cytoplasmic body myopathy. Report on a family and review of the literature. 57
6886734 1983
46
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. 57
6343859 1983
47
Autosomal dominant multicore disease. 57
7077346 1982
48
Myopathy with multiple minicore--report of two siblings. 57
6448277 1980
49
Common origin of rods, cores, miniature cores, and focal loss of cross-striations. 57
687182 1978
50
Multicore disease in twins. 57
985853 1976

Variations for Rigid Spine Muscular Dystrophy 1

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:

5 (show top 50) (show all 329)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SELENON NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) SNV Pathogenic
4489 rs121908182 GRCh37: 1:26135587-26135587
GRCh38: 1:25809096-25809096
2 SELENON NM_020451.2(SELENON):c.1385G>A (p.Sec462=) SNV Pathogenic
4490 rs587776597 GRCh37: 1:26139281-26139281
GRCh38: 1:25812790-25812790
3 SELENON NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) SNV Pathogenic
4493 rs121908186 GRCh37: 1:26139254-26139254
GRCh38: 1:25812763-25812763
4 SELENON NM_020451.3(SELENON):c.1384T>G SNV Pathogenic
4495 rs121908187 GRCh37: 1:26139280-26139280
GRCh38: 1:25812789-25812789
5 SELENON SELENON, 92-BP DEL, NT-19 DEL Pathogenic
4497 GRCh37:
GRCh38:
6 SELENON NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) MICROSAT Pathogenic
623320 rs1572226744 GRCh37: 1:26126723-26126724
GRCh38: 1:25800232-25800233
7 SELENON INSERT Pathogenic
870306 GRCh37:
GRCh38:
8 SELENON NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) DUP Pathogenic
954787 rs2047848157 GRCh37: 1:26126739-26126740
GRCh38: 1:25800248-25800249
9 SELENON NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) DUP Pathogenic
193429 rs797044620 GRCh37: 1:26126761-26126762
GRCh38: 1:25800270-25800271
10 SELENON NM_020451.3(SELENON):c.180del (p.Gln61fs) DEL Pathogenic
631602 rs1557814066 GRCh37: 1:26126900-26126900
GRCh38: 1:25800409-25800409
11 SELENON NC_000001.10:g.(?_26126650)_26126749del DEL Pathogenic
1073083 GRCh37:
GRCh38:
12 SELENON NM_020451.3(SELENON):c.683_689dup (p.Met230fs) DUP Pathogenic
419984 rs1553120055 GRCh37: 1:26135215-26135216
GRCh38: 1:25808724-25808725
13 overlap with 3 genes NC_000001.10:g.(?_25870190)_(26142209_?)del DEL Pathogenic
1365639 GRCh37: 1:25870190-26142209
GRCh38:
14 SELENON NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) SNV Pathogenic
1415561 GRCh37: 1:26140380-26140380
GRCh38: 1:25813889-25813889
15 SELENON NM_020451.3(SELENON):c.572G>A (p.Trp191Ter) SNV Pathogenic
1420223 GRCh37: 1:26135105-26135105
GRCh38: 1:25808614-25808614
16 SELENON NM_020451.3(SELENON):c.18_46del (p.Gly7fs) DEL Pathogenic
1411446 GRCh37: 1:26126732-26126760
GRCh38: 1:25800241-25800269
17 SELENON NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs) INSERT Pathogenic
1445921 GRCh37: 1:26126723-26126724
GRCh38: 1:25800232-25800233
18 SELENON NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs) INSERT Pathogenic
1451790 GRCh37: 1:26135233-26135234
GRCh38: 1:25808742-25808743
19 SELENON NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) SNV Pathogenic
461630 rs960468382 GRCh37: 1:26140453-26140453
GRCh38: 1:25813962-25813962
20 SELENON NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) SNV Pathogenic
575921 rs760063405 GRCh37: 1:26139271-26139271
GRCh38: 1:25812780-25812780
21 SELENON NM_020451.3(SELENON):c.160G>T (p.Glu54Ter) SNV Pathogenic
1453339 GRCh37: 1:26126881-26126881
GRCh38: 1:25800390-25800390
22 SELENON NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) SNV Pathogenic
945382 rs934913626 GRCh37: 1:26128577-26128577
GRCh38: 1:25802086-25802086
23 SELENON NM_020451.3(SELENON):c.643del (p.Gln215fs) DEL Pathogenic
956974 rs2047931126 GRCh37: 1:26135175-26135175
GRCh38: 1:25808684-25808684
24 SELENON NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) SNV Pathogenic
530817 rs1553120202 GRCh37: 1:26136222-26136222
GRCh38: 1:25809731-25809731
25 SELENON NM_020451.3(SELENON):c.9_33del (p.Ala4fs) DEL Pathogenic
280406 rs886041619 GRCh37: 1:26126724-26126748
GRCh38: 1:25800233-25800257
26 SELENON NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs) DEL Pathogenic
1075320 GRCh37: 1:26139207-26139210
GRCh38: 1:25812716-25812719
27 SELENON NM_020451.3(SELENON):c.1086dup (p.Pro363fs) DUP Pathogenic
1076253 GRCh37: 1:26138019-26138020
GRCh38: 1:25811528-25811529
28 SELENON NM_020451.3(SELENON):c.1A>G (p.Met1Val) SNV Pathogenic
4491 rs121908184 GRCh37: 1:26126722-26126722
GRCh38: 1:25800231-25800231
29 SELENON NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) SNV Pathogenic
461634 rs1553120047 GRCh37: 1:26135198-26135198
GRCh38: 1:25808707-25808707
30 SELENON NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) SNV Pathogenic
461629 rs779162837 GRCh37: 1:26140390-26140390
GRCh38: 1:25813899-25813899
31 SELENON NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) DUP Pathogenic
193432 rs797044621 GRCh37: 1:26126724-26126725
GRCh38: 1:25800233-25800234
32 SELENON NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) SNV Pathogenic
837936 rs778603129 GRCh37: 1:26131710-26131710
GRCh38: 1:25805219-25805219
33 SELENON NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) SNV Pathogenic
952054 rs775713184 GRCh37: 1:26135098-26135098
GRCh38: 1:25808607-25808607
34 SELENON NM_020451.3(SELENON):c.-11_81del (p.Met1fs) DEL Pathogenic
373075 rs1557813850 GRCh37: 1:26126703-26126794
GRCh38: 1:25800212-25800303
35 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV Pathogenic
4492 rs121908185 GRCh37: 1:26140381-26140381
GRCh38: 1:25813890-25813890
36 SELENON NM_020451.3(SELENON):c.713dup (p.Asn238fs) DUP Pathogenic
Pathogenic
4494 rs368104077 GRCh37: 1:26135244-26135245
GRCh38: 1:25808753-25808754
37 SELENON NM_020451.3(SELENON):c.2T>G (p.Met1Arg) SNV Pathogenic
Pathogenic
461632 rs1174570887 GRCh37: 1:26126723-26126723
GRCh38: 1:25800232-25800232
38 SELENON NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) SNV Pathogenic
574438 rs1557814050 GRCh37: 1:26126887-26126887
GRCh38: 1:25800396-25800396
39 SELENON NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) SNV Pathogenic
571063 rs756927098 GRCh37: 1:26140389-26140389
GRCh38: 1:25813898-25813898
40 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) SNV Pathogenic
Likely Pathogenic
280026 rs199564797 GRCh37: 1:26135641-26135641
GRCh38: 1:25809150-25809150
41 SELENON NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) SNV Pathogenic
95958 rs377215510 GRCh37: 1:26139211-26139211
GRCh38: 1:25812720-25812720
42 SELENON NM_020451.3(SELENON):c.300del (p.Ser102fs) DEL Pathogenic
662908 rs1269951927 GRCh37: 1:26127650-26127650
GRCh38: 1:25801159-25801159
43 SELENON NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) SNV Pathogenic
664698 rs747284477 GRCh37: 1:26138269-26138269
GRCh38: 1:25811778-25811778
44 SELENON NM_020451.3(SELENON):c.1209dup (p.Lys404fs) DUP Pathogenic
835943 rs745715484 GRCh37: 1:26138297-26138298
GRCh38: 1:25811806-25811807
45 SELENON NM_020451.3(SELENON):c.1010+1G>A SNV Pathogenic
837938 rs908682527 GRCh37: 1:26136312-26136312
GRCh38: 1:25809821-25809821
46 SELENON NM_020451.3(SELENON):c.863_864del (p.Val288fs) MICROSAT Pathogenic
944327 rs1184282261 GRCh37: 1:26135630-26135631
GRCh38: 1:25809139-25809140
47 SELENON NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) DEL Pathogenic
432862 rs1553120691 GRCh37: 1:26139226-26139228
GRCh38: 1:25812735-25812737
48 SELENON NM_020451.3(SELENON):c.746_747+36del DEL Pathogenic
930110 rs2047932848 GRCh37: 1:26135278-26135315
GRCh38: 1:25808787-25808824
49 SELENON NM_020451.3(SELENON):c.997_1000del (p.Val333fs) DEL Pathogenic
280493 rs886041686 GRCh37: 1:26136297-26136300
GRCh38: 1:25809806-25809809
50 SELENON NM_020451.3(SELENON):c.773del (p.Met258fs) DEL Pathogenic
1704255 GRCh37: 1:26135542-26135542
GRCh38: 1:25809051-25809051

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

73
# 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 rs779162837
10 SELENON p.Arg469Trp VAR_058464 rs756927098

Expression for Rigid Spine Muscular Dystrophy 1

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

Pathways for Rigid Spine Muscular Dystrophy 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 TTN RYR1 DYSF DMD ACTA1
2
Show member pathways
12.17 RYR1 LMNA LAMA2 DMD DAG1 CAPN3
3 11.42 LAMA2 DMD DAG1
4
Show member pathways
11.3 TTN DMD ACTA1
5 11.09 LAMA2 DAG1 ACTA1
6
Show member pathways
10.28 FKTN FKRP
7 10.2 LAMA2 DMD DAG1 ACTA1

GO Terms for Rigid Spine Muscular Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.73 TTN RYR1 MYOT MYH7 DMD CAPN3
2 myofibril GO:0030016 9.55 MYH7 DMD CAPN3
3 sarcolemma GO:0042383 9.47 RYR1 MYOT LAMA2 FKRP DYSF DMD
4 striated muscle thin filament GO:0005865 9.43 TTN ACTA1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 10.11 MYOT LAMA2 DAG1 B3GNT2
2 sarcomere organization GO:0045214 9.91 TTN MYH7 CAPN3
3 skeletal muscle fiber development GO:0048741 9.88 SELENON RYR1 ACTA1
4 muscle cell cellular homeostasis GO:0046716 9.85 CAPN3 DMD GAA
5 cellular response to caffeine GO:0071313 9.83 SELENON RYR1
6 selenocysteine incorporation GO:0001514 9.78 SELENOT SECISBP2
7 skeletal muscle thin filament assembly GO:0030240 9.76 TTN ACTA1
8 cardiac muscle contraction GO:0060048 9.76 TTN MYH7 GAA DMD
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.67 DMD DAG1
10 striated muscle contraction GO:0006941 9.65 TTN MYH7 GAA
11 muscle contraction GO:0006936 9.65 ACTA1 MYH7 MYOT RYR1 TTN
12 skeletal muscle tissue regeneration GO:0043403 9.62 SELENON DMD DAG1
13 muscle organ development GO:0007517 9.36 LMNA LAMA2 FKTN FHL1 DMD CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 phosphotransferase activity, for other substituted phosphate groups GO:0016780 9.46 FKTN FKRP
2 dystroglycan binding GO:0002162 9.43 FKRP DMD DAG1
3 structural constituent of muscle GO:0008307 9.32 TTN MYOT DMD DAG1 CAPN3

Sources for Rigid Spine Muscular Dystrophy 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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