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RSMD1
MCID: RGD003
MIFTS: 56

Rigid Spine Muscular Dystrophy 1 (RSMD1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Rigid Spine Muscular Dystrophy 1

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MalaCards integrated aliases for Rigid Spine Muscular Dystrophy 1:

Name: Rigid Spine Muscular Dystrophy 1 56 12 73 15
Rigid Spine Syndrome 56 12 52 58 73 54 43
Eichsfeld Type Congenital Muscular Dystrophy 12 29 6 71
Rsmd1 56 12 52 73
Mdrs1 56 12 52 73
Rss 56 12 52 73
Desmin-Related Myopathy with Mallory Bodies 56 12 73
Classic Multiminicore Myopathy 12 58 6
Sepn1-Related Myopathy 12 52 73
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 73
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 58
Multiminicore Disease, Severe Classic Form 56 52
Multicore Myopathy, Severe Classic Form 56 52
Minicore Myopathy, Severe Classic Form 56 52
Early-Onset Desmin-Related Myopathy 12 58
Muscular Dystrophy, Rigid Spine, 1 56 13
Classic Multiminicore Disease 12 58
Classic Mmd 12 58
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity; Mdrs1 56
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 56
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 52
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 73
Muscular Dystrophy, Congenital, Eichsfeld Type 56
Congenital Muscular Dystrophy with Rigid Spine 6
Desmin-Related Myopathies with Mallory Bodies 52
Congenital Muscular Dystrophy Eichsfeld Type 73
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 58
Multiminicore Disease Severe Classic Form 73
Dystrophy, Muscular, Rigid Spine, Type 1 39
Severe Classic Form Multicore Myopathy 12
Multicore Myopathy Severe Classic Form 73
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 73
Rigid Spine Muscular Dystrophy-1 52
Rigid Spine Syndrome; Rss 56
Myopathy, Sepn1-Related 56

Characteristics:

Orphanet epidemiological data:

58
desmin-related myopathy with mallory body-like inclusions
Inheritance: Autosomal recessive;
rigid spine syndrome
Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
cause of death usually due to respiratory failure before adulthood


HPO:

31
rigid spine muscular dystrophy 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Rigid Spine Muscular Dystrophy 1

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97244 Definition 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Rigid Spine Muscular Dystrophy 1, also known as rigid spine syndrome, is related to reducing body myopathy and myopathy, myofibrillar, 1, and has symptoms including generalized muscle weakness and facial paresis. An important gene associated with Rigid Spine Muscular Dystrophy 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. Affiliated tissues include testes, bone and heart, and related phenotypes are scoliosis and myopathy

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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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.

Sources

Related Diseases for Rigid Spine Muscular Dystrophy 1

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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 114)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 33.2 TTN FHL1 DMD
2 myopathy, myofibrillar, 1 31.4 TTN SELENON DMD
3 emery-dreifuss muscular dystrophy 31.3 LAMA2 FHL1 DMD
4 muscular dystrophy, congenital, lmna-related 31.2 TTN SELENON MYH7 LAMA2 FHL1 DMD
5 atrial standstill 1 31.1 TTN MYH7 GAA DMD
6 myopathy, congenital 31.0 TTN SELENON MYH7 MDCMP GAA DMD
7 muscular dystrophy 31.0 TTN SELENON MYH7 MDCMP LAMA2 GAA
8 reducing body myopathy 1a 30.9 TTN FHL1
9 respiratory failure 30.8 TTN SELENON MYH7 LAMA2 GAA FHL1
10 limb-girdle muscular dystrophy 30.8 TTN LAMA2 DMD
11 scapuloperoneal myopathy 30.7 MYH7 FHL1 ACTA1
12 hypertrophic cardiomyopathy 30.7 TTN MYH7 LAMA2 GAA FHL1 DMD
13 malignant hyperthermia 30.7 SELENON MYH7 LAMA2 DMD
14 myopathy 30.7 YARS2 TTN SELENON SECISBP2 MYH7 LAMA2
15 silver-russell syndrome 1 12.2
16 robinow-sorauf syndrome 11.9
17 muscular dystrophy, congenital, merosin-positive 11.2
18 autosomal dominant distal myopathy 10.7 MYH7 DMD ACTA1
19 cardioneuromyopathy with hyaline masses and nemaline rods 10.7 TTN DMD
20 central core myopathy 10.7 SELENON MYH7 ACTA1
21 foot drop 10.7 TTN FHL1 ACTA1
22 creatine phosphokinase, elevated serum 10.6 LAMA2 GAA DMD
23 autosomal recessive limb-girdle muscular dystrophy 10.6 TTN LAMA2 DMD
24 autosomal recessive limb-girdle muscular dystrophy type 2a 10.6 TTN LAMA2 DMD
25 hyaline body myopathy 10.6 TTN SELENON MYH7 ACTA1
26 cardiomyopathy, familial hypertrophic, 4 10.6 TTN MYH7 DMD
27 congenital structural myopathy 10.6 TTN SELENON MYH7 ACTA1
28 congenital muscular dystrophy-dystroglycanopathy type a10 10.6 SELENON LAMA2
29 myopathy, congenital, with fiber-type disproportion 10.6 SELENON MYH7 ACTA1
30 autosomal recessive limb-girdle muscular dystrophy type 2d 10.6 TTN LAMA2 DMD
31 congenital muscular dystrophy-dystroglycanopathy type a 10.6 LAMA2 DMD
32 congenital muscular dystrophy-dystroglycanopathy a14 10.6 SELENON LAMA2
33 muscular dystrophy, congenital merosin-deficient, 1a 10.6 SELENON LAMA2 DMD
34 familial isolated dilated cardiomyopathy 10.6 TTN MYH7 DMD
35 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.6 TTN SELENON DMD
36 centronuclear myopathy 10.6 TTN SELENON DMD ACTA1
37 muscular dystrophy, limb-girdle, autosomal recessive 7 10.6 TTN DMD
38 miyoshi muscular dystrophy 10.6 TTN MYH7 GAA DMD
39 bethlem myopathy 1 10.6 SELENON MYH7 LAMA2 DMD
40 ullrich congenital muscular dystrophy 1 10.6 SELENON MDCMP LAMA2 DMD
41 progressive muscular dystrophy 10.6 FHL1 DMD
42 restrictive cardiomyopathy 10.6 TTN MYH7 DMD ACTA1
43 pontocerebellar hypoplasia, type 2d 10.6 SELENON SECISBP2
44 muscle hypertrophy 10.6 TTN MYH7 FHL1
45 isolated elevated serum creatine phosphokinase levels 10.6 TTN SELENON LAMA2 GAA DMD
46 muscular disease 10.6 TTN MYH7 LAMA2 GAA DMD
47 muscular dystrophy, limb-girdle, autosomal recessive 6 10.6 TTN DMD
48 autosomal recessive limb-girdle muscular dystrophy type 2c 10.6 LAMA2 DMD
49 intrinsic cardiomyopathy 10.5 TTN MYH7 DMD
50 central core disease of muscle 10.5 SELENON GAA

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



Diseases related to Rigid Spine Muscular Dystrophy 1
Sources

Symptoms & Phenotypes for Rigid Spine Muscular Dystrophy 1

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Human phenotypes related to Rigid Spine Muscular Dystrophy 1:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002650
2 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 spinal rigidity 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0003306
5 generalized hypotonia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001290
6 congenital muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003741
7 neck muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000467
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
11 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
14 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
15 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
16 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
17 hip contracture 58 31 frequent (33%) Frequent (79-30%) HP:0003273
18 poor head control 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002421
19 pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002090
20 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
21 increased muscle lipid content 58 31 frequent (33%) Frequent (79-30%) HP:0009058
22 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
23 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
24 limited neck flexion 58 31 frequent (33%) Frequent (79-30%) HP:0005991
25 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
26 hamstring contractures 58 31 frequent (33%) Frequent (79-30%) HP:0003089
27 abnormality on pulmonary function testing 58 31 frequent (33%) Frequent (79-30%) HP:0030878
28 cardiac conduction abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0031546
29 nocturnal hypoventilation 58 31 frequent (33%) Frequent (79-30%) HP:0002877
30 intermittent episodes of respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0004889
31 weakness of facial musculature 58 31 frequent (33%) Frequent (79-30%) HP:0030319
32 restrictive ventilatory defect 31 frequent (33%) HP:0002091
33 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
34 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
35 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
36 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
37 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
38 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
39 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
40 microretrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000308
41 gowers sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003391
42 right ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001667
43 right ventricular failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001708
44 muscular hypotonia 31 HP:0001252
45 flexion contracture 31 HP:0001371
46 generalized muscle weakness 31 HP:0003324
47 motor delay 31 HP:0001270
48 facial palsy 31 HP:0010628
49 nasal speech 31 HP:0001611
50 muscular dystrophy 31 HP:0003560

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
spinal rigidity
limited flexion

Growth Other:
failure to thrive

Muscle Soft Tissue:
poor head control
axial muscle weakness
hypotonia
muscle weakness, diffuse
generalized muscle atrophy
more
Head And Neck Neck:
limited neck flexion

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
facial weakness

Chest External Features:
flat thorax

Growth Height:
short stature

Head And Neck Head:
poor head control

Respiratory:
reduced vital capacity
nocturnal hypoventilation
restrictive respiratory syndrome

Neurologic Central Nervous System:
delayed motor development

Skeletal:
joint contractures

Growth Weight:
low body weight

Voice:
nasal, high-pitched voice

Clinical features from OMIM:

602771

UMLS symptoms related to Rigid Spine Muscular Dystrophy 1:


generalized muscle weakness, facial paresis

MGI Mouse Phenotypes related to Rigid Spine Muscular Dystrophy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ACTA1 CMAS DMD FHL1 GAA LAMA2
2 muscle MP:0005369 9.23 ACTA1 DMD FHL1 GAA LAMA2 MYH7
Sources

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

About this section

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

Cochrane evidence based reviews: rigid spine syndrome

Sources

Genetic Tests for Rigid Spine Muscular Dystrophy 1

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Genetic tests related to Rigid Spine Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Eichsfeld Type Congenital Muscular Dystrophy 29 SELENON
Sources

Anatomical Context for Rigid Spine Muscular Dystrophy 1

About this section

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

40
Testes, Bone, Heart, Skeletal Muscle, Trachea
Sources

Publications for Rigid Spine Muscular Dystrophy 1

About this section

Articles related to Rigid Spine Muscular Dystrophy 1:

(show top 50) (show all 165)
# 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. 54 56 61 6
12192640 2002
2
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 61 56 6
11528383 2001
3
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 56 6
15668457 2005
4
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 56 6
15122708 2004
5
A form of congenital muscular dystrophy. 6 56
7224095 1980
6
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. 54 61 56
10545040 1999
7
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301468 2001
8
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 61 56
10665485 2000
9
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. 61 56
9585610 1998
10
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 61 56
7919974 1994
11
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 56 61
2010758 1991
12
Rigid spine syndrome in a girl. 56 61
6188813 1982
13
[Rigid-spine syndrome in a female patient (author's transl)]. 61 56
7100735 1982
14
Rigid spine syndrome. 56 61
438838 1979
15
Rigid spine syndrome: a muscle syndrome in search of a name. 61 56
4697975 1973
16
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
17
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 56
19557870 2009
18
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 6
18713863 2008
19
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 6
16365872 2006
20
Multiminicore Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301467 2003
21
Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands. 56
12207939 2002
22
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 56
11079538 2000
23
Minicore myopathy in children: a clinical and histopathological study of 19 cases. 56
10838253 2000
24
50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands. 56
10712016 1997
25
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 56
7561954 1995
26
Minicore myopathy with dominant inheritance. 56
3806134 1987
27
Severe multicore disease associated with reaction to anesthesia. 56
4062619 1985
28
Cytoplasmic body myopathy. Report on a family and review of the literature. 56
6886734 1983
29
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. 56
6343859 1983
30
Autosomal dominant multicore disease. 56
7077346 1982
31
Myopathy with multiple minicore--report of two siblings. 56
6448277 1980
32
Common origin of rods, cores, miniature cores, and focal loss of cross-striations. 56
687182 1978
33
Multicore disease in twins. 56
985853 1976
34
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. 56
5115748 1971
35
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. 54 61
19547838 2009
36
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 61 54
19330236 2009
37
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. 54 61
16531044 2006
38
The rigid spine syndrome due to acid maltase deficiency. 61 54
9052818 1997
39
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. 54 61
7719139 1995
40
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2020
41
Screening for late-onset Pompe disease in Poland. 61
31125121 2019
42
A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report. 61
30614353 2019
43
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. 61
30642275 2019
44
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. 61
29802573 2018
45
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. 61
30145633 2018
46
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. 61
28224639 2018
47
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. 61
27863379 2016
48
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. 61
27671536 2016
49
Rigid Spine Syndrome among Children in Oman. 61
26357557 2015
50
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 61
25500009 2015
Sources

Variations for Rigid Spine Muscular Dystrophy 1

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ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:

6 (show top 50) (show all 143) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SELENON NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)SNV Pathogenic 461634 rs1553120047 1:26135198-26135198 1:25808707-25808707
2 SELENON NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)SNV Pathogenic 461629 rs779162837 1:26140390-26140390 1:25813899-25813899
3 SELENON NM_020451.3(SELENON):c.2T>G (p.Met1Arg)SNV Pathogenic 461632 rs1174570887 1:26126723-26126723 1:25800232-25800232
4 SELENON NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)SNV Pathogenic 461630 rs960468382 1:26140453-26140453 1:25813962-25813962
5 SELENON NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)duplication Pathogenic 523931 rs1553198611 1:26127596-26127597 1:25801105-25801106
6 SELENON NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)SNV Pathogenic 530817 rs1553120202 1:26136222-26136222 1:25809731-25809731
7 SELENON NM_020451.3(SELENON):c.2T>C (p.Met1Thr)SNV Pathogenic 530813 rs1174570887 1:26126723-26126723 1:25800232-25800232
8 SELENON NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)SNV Pathogenic 574438 rs1557814050 1:26126887-26126887 1:25800396-25800396
9 SELENON NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)SNV Pathogenic 575921 rs760063405 1:26139271-26139271 1:25812780-25812780
10 SELENON NM_020451.3(SELENON):c.3_7GGGCC[3] (p.Arg5fs)short repeat Pathogenic 623320 1:26126723-26126724 1:25800232-25800233
11 SELENON NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)SNV Pathogenic 664698 1:26138269-26138269 1:25811778-25811778
12 SELENON NM_020451.3(SELENON):c.-64_36deldeletion Pathogenic 665196 1:26126650-26126749 1:25800159-25800258
13 SELENON NM_020451.3(SELENON):c.-55_183deldeletion Pathogenic 659413 1:26126666-26126903 1:25800175-25800412
14 SELENON NM_020451.3(SELENON):c.300del (p.Ser102fs)deletion Pathogenic 662908 1:26127650-26127650 1:25801159-25801159
15 SELENON NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)SNV Pathogenic 837936 1:26131710-26131710 1:25805219-25805219
16 SELENON NM_020451.3(SELENON):c.1209dup (p.Lys404fs)duplication Pathogenic 835943 1:26138297-26138298 1:25811806-25811807
17 SELENON NM_020451.3(SELENON):c.1010+1G>ASNV Pathogenic 837938 1:26136312-26136312 1:25809821-25809821
18 SELENON insertion Pathogenic 870306
19 SELENON NM_020451.3(SELENON):c.818G>A (p.Gly273Glu)SNV Pathogenic 4489 rs121908182 1:26135587-26135587 1:25809096-25809096
20 SELENON NM_020451.2(SEPN1):c.1385G>A (p.Sec462=)SNV Pathogenic 4490 rs587776597 1:26139281-26139281 1:25812790-25812790
21 SELENON NM_020451.3(SELENON):c.1A>G (p.Met1Val)SNV Pathogenic 4491 rs121908184 1:26126722-26126722 1:25800231-25800231
22 SELENON NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)SNV Pathogenic 4493 rs121908186 1:26139254-26139254 1:25812763-25812763
23 SELENON NM_020451.3(SELENON):c.713dup (p.Asn238fs)duplication Pathogenic 4494 rs368104077 1:26135244-26135245 1:25808753-25808754
24 SELENON NM_020451.3(SELENON):c.1384T>GSNV Pathogenic 4495 rs121908187 1:26139280-26139280 1:25812789-25812789
25 SELENON SEPN1, 92-BP DELdeletion Pathogenic 4497
26 SELENON NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)SNV Pathogenic 95958 rs377215510 1:26139211-26139211 1:25812720-25812720
27 SELENON NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)duplication Pathogenic 193432 rs797044621 1:26126724-26126725 1:25800233-25800234
28 SELENON NM_020451.3(SELENON):c.997_1000del (p.Val333fs)deletion Pathogenic 280493 rs886041686 1:26136297-26136300 1:25809806-25809809
29 SELENON NM_020451.3(SELENON):c.-11_81del (p.Met1fs)deletion Pathogenic 373075 rs1553198464 1:26126703-26126794 1:25800212-25800303
30 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)SNV Pathogenic/Likely pathogenic 280026 rs199564797 1:26135641-26135641 1:25809150-25809150
31 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)SNV Pathogenic/Likely pathogenic 4496 rs121908188 1:26136244-26136244 1:25809753-25809753
32 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)SNV Pathogenic/Likely pathogenic 4492 rs121908185 1:26140381-26140381 1:25813890-25813890
33 SELENON NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)SNV Pathogenic/Likely pathogenic 657794 1:26135571-26135571 1:25809080-25809080
34 SELENON NM_020451.3(SELENON):c.-26_12del (p.Met1fs)deletion Likely pathogenic 844164 1:26126689-26126726 1:25800198-25800235
35 SELENON NM_020451.3(SELENON):c.873-2A>GSNV Likely pathogenic 657817 1:26136172-26136172 1:25809681-25809681
36 SELENON NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)SNV Likely pathogenic 571063 rs756927098 1:26140389-26140389 1:25813898-25813898
37 SELENON NM_020451.3(SELENON):c.402_403+2deldeletion Likely pathogenic 461633 rs773670891 1:26128606-26128609 1:25802115-25802118
38 SELENON NM_020451.3(SELENON):c.1501-1G>ASNV Likely pathogenic 658952 1:26140567-26140567 1:25814076-25814076
39 SELENON NM_020451.3(SELENON):c.*1107T>CSNV Likely pathogenic 844320 1:26143316-26143316 1:25816825-25816825
40 ACTA1 NM_001100.3(ACTA1):c.460G>C (p.Val154Leu)SNV Likely pathogenic 224666 rs768144106 1:229568173-229568173 1:229432426-229432426
41 SELENON NM_020451.3(SELENON):c.1710G>A (p.Thr570=)SNV Conflicting interpretations of pathogenicity 261279 rs371398538 1:26142146-26142146 1:25815655-25815655
42 SELENON NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)SNV Conflicting interpretations of pathogenicity 281048 rs183272965 1:26142151-26142151 1:25815660-25815660
43 TTN NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)SNV Conflicting interpretations of pathogenicity 196800 rs148920986 2:179638314-179638314 2:178773587-178773587
44 SELENON NM_020451.3(SELENON):c.465G>A (p.Thr155=)SNV Conflicting interpretations of pathogenicity 261283 rs753774853 1:26131694-26131694 1:25805203-25805203
45 SELENON NM_020451.3(SELENON):c.729G>A (p.Pro243=)SNV Conflicting interpretations of pathogenicity 261284 rs139020143 1:26135262-26135262 1:25808771-25808771
46 SELENON NM_020451.3(SELENON):c.732G>A (p.Pro244=)SNV Conflicting interpretations of pathogenicity 261285 rs200765195 1:26135265-26135265 1:25808774-25808774
47 SELENON NM_020451.3(SELENON):c.1638C>T (p.Ile546=)SNV Conflicting interpretations of pathogenicity 383990 rs201066183 1:26142074-26142074 1:25815583-25815583
48 SELENON NM_020451.3(SELENON):c.7C>A (p.Arg3=)SNV Conflicting interpretations of pathogenicity 290956 rs866566089 1:26126728-26126728 1:25800237-25800237
49 SELENON NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)SNV Conflicting interpretations of pathogenicity 297024 rs199742668 1:26135083-26135083 1:25808592-25808592
50 SELENON NM_020451.3(SELENON):c.1110G>A (p.Thr370=)SNV Conflicting interpretations of pathogenicity 297027 rs779080942 1:26138199-26138199 1:25811708-25811708

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

Sources

Expression for Rigid Spine Muscular Dystrophy 1

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

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

# Super pathways Score Top Affiliating Genes
1
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.53 TTN MYH7 LAMA2 DMD
2
Striated Muscle Contraction 65 1
11.19 TTN DMD ACTA1
3
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.08 LAMA2 DMD ACTA1
Sources

GO Terms for Rigid Spine Muscular Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 RSPH3 RSPH1 DMD CFAP91 CFAP61 CCDC65
2 Z disc GO:0030018 9.58 TTN MYH7 DMD
3 motile cilium GO:0031514 9.46 RSPH1 CFAP91 CFAP61 CCDC65
4 sarcomere GO:0030017 9.43 TTN MYH7 ACTA1
5 striated muscle thin filament GO:0005865 9.32 TTN ACTA1
6 radial spoke stalk GO:0001536 8.96 CFAP91 CFAP61
7 axoneme GO:0005930 8.92 RSPH6A CFAP91 CFAP61 CCDC65

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 TTN MYH7 ACTA1
2 muscle organ development GO:0007517 9.54 LAMA2 FHL1 DMD
3 skeletal muscle fiber development GO:0048741 9.51 SELENON ACTA1
4 muscle cell cellular homeostasis GO:0046716 9.49 GAA DMD
5 axoneme assembly GO:0035082 9.48 RSPH6A RSPH1
6 regulation of the force of heart contraction GO:0002026 9.46 MYH7 GAA
7 cilium movement GO:0003341 9.43 RSPH6A CFAP91 CFAP61
8 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.4 SELENON DMD
9 striated muscle contraction GO:0006941 9.33 TTN MYH7 GAA
10 skeletal muscle thin filament assembly GO:0030240 9.32 TTN ACTA1
11 cardiac muscle contraction GO:0060048 9.26 TTN MYH7 GAA DMD
12 muscle filament sliding GO:0030049 8.92 TTN MYH7 DMD ACTA1

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

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

Sources for Rigid Spine Muscular Dystrophy 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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