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RSMD1
MCID: RGD003
MIFTS: 55

Rigid Spine Muscular Dystrophy 1 (RSMD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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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 57 12 74 15
Rigid Spine Syndrome 57 12 53 59 74 55 44
Eichsfeld Type Congenital Muscular Dystrophy 12 29 6 72
Rsmd1 57 12 53 74
Mdrs1 57 12 53 74
Rss 57 12 53 74
Desmin-Related Myopathy with Mallory Bodies 57 12 74
Sepn1-Related Myopathy 12 53 74
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 74
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 59
Multiminicore Disease, Severe Classic Form 57 53
Multicore Myopathy, Severe Classic Form 57 53
Minicore Myopathy, Severe Classic Form 57 53
Early-Onset Desmin-Related Myopathy 12 59
Muscular Dystrophy, Rigid Spine, 1 57 13
Classic Multiminicore Myopathy 12 59
Classic Multiminicore Disease 12 59
Classic Mmd 12 59
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity; Mdrs1 57
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 57
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 53
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 74
Muscular Dystrophy, Congenital, Eichsfeld Type 57
Congenital Muscular Dystrophy with Rigid Spine 6
Desmin-Related Myopathies with Mallory Bodies 53
Congenital Muscular Dystrophy Eichsfeld Type 74
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 59
Multiminicore Disease Severe Classic Form 74
Dystrophy, Muscular, Rigid Spine, Type 1 40
Severe Classic Form Multicore Myopathy 12
Multicore Myopathy Severe Classic Form 74
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 74
Rigid Spine Muscular Dystrophy-1 53
Rigid Spine Syndrome; Rss 57
Myopathy, Sepn1-Related 57

Characteristics:

Orphanet epidemiological data:

59
desmin-related myopathy with mallory body-like inclusions
Inheritance: Autosomal recessive;
rigid spine syndrome
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110633
OMIM 57 602771
ICD10 33 G71.2 G71.8
MESH via Orphanet 45 C535683
ICD10 via Orphanet 34 G71.2 G71.8
MedGen 42 C0410180
UMLS 72 C0410180
Sources

Summaries for Rigid Spine Muscular Dystrophy 1

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97244DefinitionRigid 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 respiratory failure, 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Affiliated tissues include testes, heart and skeletal muscle, and related phenotypes are respiratory insufficiency and scoliosis

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 : 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)

UniProtKB/Swiss-Prot : 74 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 106)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 33.1 TTN DMD
2 respiratory failure 30.8 TTN SELENON LAMA2 GAA
3 atrial standstill 1 30.5 TTN MYH7 LMNA GAA DMD
4 myositis 30.5 TTN DYSF DMD
5 muscular dystrophy, congenital, lmna-related 30.4 TTN SELENON LMNA LAMA2 FKBP14 DMD
6 myopathy, congenital 30.4 SELENON MYH7 GAA DYSF DMD ACTA1
7 myopathy 30.4 TTN SELENON MYH7 GAA DYSF ACTA1
8 limb-girdle muscular dystrophy 29.9 TTN LMNA LAMA2 DYSF DMD
9 muscular dystrophy 29.3 TTN SELENON MDCMP LMNA LAMA2 GAA
10 muscular disease 29.0 TTN SELENON MYH7 LMNA LAMA2 GAA
11 silver-russell syndrome 12.6
12 robinow-sorauf syndrome 11.8
13 muscular dystrophy, congenital, merosin-positive 11.2
14 cardioneuromyopathy with hyaline masses and nemaline rods 10.7 TTN DMD
15 localized lipodystrophy 10.7 DYSF DMD
16 central core myopathy 10.6 SELENON MYH7
17 myopathy, congenital, with fiber-type disproportion 10.6 SELENON MYH7 ACTA1
18 myopathy, myofibrillar, 2 10.6 MYH7 DMD ACTA1
19 cardiomyopathy, dilated, 1b 10.6 LAMA2 DMD
20 muscular dystrophy, congenital, 1b 10.6 LAMA2 DMD
21 isolated hyperckemia 10.6 LAMA2 GAA DMD
22 familial isolated dilated cardiomyopathy 10.6 TTN MYH7 DMD
23 creatine phosphokinase, elevated serum 10.6 LAMA2 GAA DMD
24 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.6 TTN LMNA
25 autosomal recessive limb-girdle muscular dystrophy type 2c 10.6 DYSF DMD
26 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 TTN LMNA
27 myopathy, x-linked, with excessive autophagy 10.6 LAMA2 GAA DMD
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.6 TTN LMNA
29 restrictive cardiomyopathy 10.6 TTN MYH7 ACTA1
30 muscular dystrophy, limb-girdle, autosomal recessive 7 10.5 TTN DYSF DMD
31 autosomal recessive limb-girdle muscular dystrophy type 2a 10.5 TTN DYSF
32 muscular dystrophy, limb-girdle, autosomal recessive 6 10.5 TTN DYSF DMD
33 muscular dystrophy-dystroglycanopathy , type c, 5 10.5 TTN LAMA2 DYSF
34 autosomal recessive limb-girdle muscular dystrophy type 2b 10.5 DYSF DMD
35 muscular dystrophy, becker type 10.5 LAMA2 DYSF DMD
36 muscular dystrophy, congenital merosin-deficient, 1a 10.5 LMNA LAMA2 DMD
37 muscular dystrophy, limb-girdle, autosomal recessive 8 10.5 TTN DYSF
38 cardiomyopathy, dilated, 1a 10.5 LMNA LAMA2 DMD
39 cardiomyopathy, dilated, 1e 10.4 TTN MYH7 LMNA
40 muscular dystrophy-dystroglycanopathy , type b, 5 10.4 LMNA LAMA2 DMD
41 pontocerebellar hypoplasia, type 2d 10.4 SELENON SECISBP2
42 congenital structural myopathy 10.4 SELENON ACTA1
43 ciliary dyskinesia, primary, 1 10.4 RSPH4A RSPH3 RSPH1
44 ullrich congenital muscular dystrophy 1 10.4 LMNA LAMA2 FKBP14
45 intrinsic cardiomyopathy 10.4 TTN MYH7 LMNA DMD
46 myofibrillar myopathy 10.3 TTN LMNA DMD ACTA1
47 myopathy, myofibrillar, 1 10.3
48 thrombophilia 10.3
49 peripartum cardiomyopathy 10.3 TTN MYH7
50 left ventricular noncompaction 10.3 TTN MYH7 LMNA DMD

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:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 scoliosis 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002650
3 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
4 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001290
5 spinal rigidity 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0003306
6 congenital muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003741
7 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
8 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
9 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
10 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
13 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
14 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
15 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
16 pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0002090
17 high pitched voice 59 32 frequent (33%) Frequent (79-30%) HP:0001620
18 hip contracture 59 32 frequent (33%) Frequent (79-30%) HP:0003273
19 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100295
20 axial muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003327
21 nocturnal hypoventilation 59 32 frequent (33%) Frequent (79-30%) HP:0002877
22 increased muscle lipid content 59 32 frequent (33%) Frequent (79-30%) HP:0009058
23 poor head control 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002421
24 generalized amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003700
25 delayed gross motor development 59 32 frequent (33%) Frequent (79-30%) HP:0002194
26 restrictive deficit on pulmonary function testing 59 32 frequent (33%) Frequent (79-30%) HP:0002111
27 hamstring contractures 59 32 frequent (33%) Frequent (79-30%) HP:0003089
28 abnormality on pulmonary function testing 59 32 frequent (33%) Frequent (79-30%) HP:0030878
29 weakness of facial musculature 59 32 frequent (33%) Frequent (79-30%) HP:0030319
30 cardiac conduction abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0031546
31 intermittent episodes of respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0004889
32 limited neck flexion 59 32 frequent (33%) Frequent (79-30%) HP:0005991
33 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
34 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
35 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
36 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
37 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
38 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
39 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
40 microretrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000308
41 gowers sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003391
42 right ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001667
43 right ventricular failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001708
44 muscular hypotonia 32 HP:0001252
45 facial palsy 32 HP:0010628
46 flexion contracture 32 HP:0001371
47 generalized muscle weakness 32 HP:0003324
48 motor delay 32 HP:0001270
49 nasal speech 32 HP:0001611
50 muscular dystrophy 32 HP:0003560

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Growth Height:
short stature

Respiratory:
nocturnal hypoventilation
reduced vital capacity
restrictive respiratory syndrome

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

Skeletal Spine:
scoliosis
spinal rigidity
limited flexion

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

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ABCB7 CLIP1 DMD GAA GP1BA HCN2
2 growth/size/body region MP:0005378 10.06 ABCB7 ACTA1 DMD GAA HCN2 LAMA2
3 homeostasis/metabolism MP:0005376 10.03 ABCB7 ACTA1 DMD DYSF GAA GP1BA
4 muscle MP:0005369 9.81 ACTA1 DMD DYSF GAA LAMA2 LMNA
5 reproductive system MP:0005389 9.56 ACTA1 CLIP1 DMD HCN2 LAMA2 LMNA
6 skeleton MP:0005390 9.23 ACTA1 DMD GAA LAMA2 LMNA SECISBP2
Sources

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

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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

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

41
Testes, 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 164)
# 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. 9 38 8 71
12192640 2002
2
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 38 8 71
11528383 2001
3
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 8 71
15668457 2005
4
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 8 71
15122708 2004
5
A form of congenital muscular dystrophy. 8 71
7224095 1980
6
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. 9 38 8
10545040 1999
7
Congenital Muscular Dystrophy Overview 38 71
20301468 2001
8
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 38 8
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. 38 8
9585610 1998
10
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 38 8
7919974 1994
11
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 38 8
2010758 1991
12
[Rigid-spine syndrome in a female patient (author's transl)]. 38 8
7100735 1982
13
Rigid spine syndrome in a girl. 38 8
6188813 1982
14
Rigid spine syndrome. 38 8
438838 1979
15
Rigid spine syndrome: a muscle syndrome in search of a name. 38 8
4697975 1973
16
Consensus statement on standard of care for congenital muscular dystrophies. 71
21078917 2010
17
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 8
19557870 2009
18
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 71
18713863 2008
19
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 71
16365872 2006
20
Multiminicore Disease 71
20301467 2003
21
Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands. 8
12207939 2002
22
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 8
11079538 2000
23
Minicore myopathy in children: a clinical and histopathological study of 19 cases. 8
10838253 2000
24
50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands. 8
10712016 1997
25
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 8
7561954 1995
26
Minicore myopathy with dominant inheritance. 8
3806134 1987
27
Severe multicore disease associated with reaction to anesthesia. 8
4062619 1985
28
Cytoplasmic body myopathy. Report on a family and review of the literature. 8
6886734 1983
29
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. 8
6343859 1983
30
Autosomal dominant multicore disease. 8
7077346 1982
31
Myopathy with multiple minicore--report of two siblings. 8
6448277 1980
32
Common origin of rods, cores, miniature cores, and focal loss of cross-striations. 8
687182 1978
33
Multicore disease in twins. 8
985853 1976
34
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. 8
5115748 1971
35
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. 9 38
19547838 2009
36
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 9 38
19330236 2009
37
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. 9 38
16531044 2006
38
The rigid spine syndrome due to acid maltase deficiency. 9 38
9052818 1997
39
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. 9 38
7719139 1995
40
Screening for late-onset Pompe disease in Poland. 38
31125121 2019
41
A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report. 38
30614353 2019
42
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. 38
30642275 2019
43
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. 38
29802573 2018
44
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. 38
30145633 2018
45
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. 38
28224639 2018
46
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. 38
27863379 2016
47
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. 38
27671536 2016
48
Rigid Spine Syndrome among Children in Oman. 38
26357557 2015
49
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 38
25274776 2015
50
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 38
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 103)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SELENON NM_020451.3(SELENON): c.665G> A (p.Trp222Ter) single nucleotide variant Pathogenic rs1553120047 1:26135198-26135198 1:25808707-25808707
2 SELENON NM_020451.3(SELENON): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs1174570887 1:26126723-26126723 1:25800232-25800232
3 SELENON NM_020451.3(SELENON): c.1469G> A (p.Trp490Ter) single nucleotide variant Pathogenic rs960468382 1:26140453-26140453 1:25813962-25813962
4 SELENON NM_020451.3(SELENON): c.249_250dup (p.Asp84fs) duplication Pathogenic rs1553198611 1:26127599-26127600 1:25801108-25801109
5 SELENON NM_020451.3(SELENON): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1174570887 1:26126723-26126723 1:25800232-25800232
6 SELENON NM_020451.3(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 1:26135587-26135587 1:25809096-25809096
7 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 1:26139281-26139281 1:25812790-25812790
8 SELENON NM_020451.3(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 1:26126722-26126722 1:25800231-25800231
9 SELENON NM_020451.3(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 1:26139254-26139254 1:25812763-25812763
10 SELENON NM_020451.3(SELENON): c.713dup (p.Asn238fs) duplication Pathogenic rs368104077 1:26135246-26135246 1:25808755-25808755
11 SELENON NM_020451.3(SELENON): c.1384T> G single nucleotide variant Pathogenic rs121908187 1:26139280-26139280 1:25812789-25812789
12 SELENON NM_020451.3(SELENON): c.921G> A (p.Trp307Ter) single nucleotide variant Pathogenic rs1553120202 1:26136222-26136222 1:25809731-25809731
13 SELENON SEPN1, 92-BP DEL deletion Pathogenic
14 SELENON NM_020451.3(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 1:26139211-26139211 1:25812720-25812720
15 SELENON NM_020451.3(SELENON): c.13_22dup (p.Gln8fs) duplication Pathogenic rs797044621 1:26126734-26126743 1:25800243-25800252
16 SELENON NM_020451.3(SELENON): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic 1:26126887-26126887 1:25800396-25800396
17 SELENON NM_020451.3(SELENON): c.1375C> T (p.Gln459Ter) single nucleotide variant Pathogenic 1:26139271-26139271 1:25812780-25812780
18 SELENON NM_020451.3(SELENON): c.3_7GGGCC[3] (p.Arg5fs) short repeat Pathogenic 1:26126723-26126724 1:25800233-25800237
19 SELENON NM_020451.3(SELENON): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic 1:26138269-26138269 1:25811778-25811778
20 SELENON NM_020451.3(SELENON): c.-64_36del deletion Pathogenic 1:26126650-26126749 1:25800167-25800266
21 SELENON NM_020451.3(SELENON): c.-55_183del deletion Pathogenic 1:26126666-26126903 1:25800176-25800413
22 SELENON NM_020451.3(SELENON): c.300del (p.Ser102fs) deletion Pathogenic 1:26127650-26127650 1:25801159-25801159
23 SELENON NM_020451.3(SELENON): c.872G> A (p.Arg291Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199564797 1:26135641-26135641 1:25809150-25809150
24 SELENON NM_020451.3(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908188 1:26136244-26136244 1:25809753-25809753
25 SELENON NM_020451.3(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908185 1:26140381-26140381 1:25813890-25813890
26 SELENON NM_020451.2(SELENON): c.402_403+2delGAGT deletion Likely pathogenic rs773670891 1:26128607-26128610 1:25802116-25802119
27 SELENON NM_020451.3(SELENON): c.1406G> A (p.Arg469Gln) single nucleotide variant Likely pathogenic rs779162837 1:26140390-26140390 1:25813899-25813899
28 ACTA1 NM_001100.3(ACTA1): c.460G> C (p.Val154Leu) single nucleotide variant Likely pathogenic rs768144106 1:229568173-229568173 1:229432426-229432426
29 SELENON NM_020451.3(SELENON): c.1405C> T (p.Arg469Trp) single nucleotide variant Likely pathogenic 1:26140389-26140389 1:25813898-25813898
30 SELENON NM_020451.3(SELENON): c.873-2A> G single nucleotide variant Likely pathogenic 1:26136172-26136172 1:25809681-25809681
31 SELENON NM_020451.3(SELENON): c.1501-1G> A single nucleotide variant Likely pathogenic 1:26140567-26140567 1:25814076-25814076
32 SELENON NM_020451.3(SELENON): c.802C> T (p.Arg268Cys) single nucleotide variant Likely pathogenic 1:26135571-26135571 1:25809080-25809080
33 SELENON NM_020451.3(SELENON): c.1112G> A (p.Gly371Asp) single nucleotide variant Conflicting interpretations of pathogenicity 1:26138201-26138201 1:25811710-25811710
34 SELENON NM_020451.3(SELENON): c.1092+6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs148071754 1:26138032-26138032 1:25811541-25811541
35 SELENON NM_020451.3(SELENON): c.465G> A (p.Thr155=) single nucleotide variant Conflicting interpretations of pathogenicity rs753774853 1:26131694-26131694 1:25805203-25805203
36 SELENON NM_020451.3(SELENON): c.729G> A (p.Pro243=) single nucleotide variant Conflicting interpretations of pathogenicity rs139020143 1:26135262-26135262 1:25808771-25808771
37 SELENON NM_020451.3(SELENON): c.1645G> A (p.Val549Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147131452 1:26142081-26142081 1:25815590-25815590
38 SELENON NM_020451.3(SELENON): c.550G> C (p.Ala184Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs199742668 1:26135083-26135083 1:25808592-25808592
39 SELENON NM_020451.3(SELENON): c.1623C> T (p.Asn541=) single nucleotide variant Conflicting interpretations of pathogenicity rs199911454 1:26142059-26142059 1:25815568-25815568
40 SELENON NM_020451.3(SELENON): c.1428G> A (p.Ser476=) single nucleotide variant Conflicting interpretations of pathogenicity rs41284305 1:26140412-26140412 1:25813921-25813921
41 SELENON NM_020451.3(SELENON): c.409A> G (p.Thr137Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35019869 1:26131638-26131638 1:25805147-25805147
42 SELENON NM_020451.3(SELENON): c.1596C> T (p.Gly532=) single nucleotide variant Conflicting interpretations of pathogenicity rs149623434 1:26140663-26140663 1:25814172-25814172
43 SELENON NM_020451.3(SELENON): c.1654G> A (p.Glu552Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200128474 1:26142090-26142090 1:25815599-25815599
44 SELENON NM_020451.3(SELENON): c.1427C> T (p.Ser476Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368377980 1:26140411-26140411 1:25813920-25813920
45 SELENON NM_020451.3(SELENON): c.979C> T (p.Arg327Cys) single nucleotide variant Uncertain significance rs753400008 1:26136280-26136280 1:25809789-25809789
46 SELENON NM_020451.3(SELENON): c.482G> A (p.Arg161Gln) single nucleotide variant Uncertain significance rs765749301 1:26131711-26131711 1:25805220-25805220
47 SELENON NM_020451.3(SELENON): c.4G> T (p.Gly2Cys) single nucleotide variant Uncertain significance rs982364753 1:26126725-26126725 1:25800234-25800234
48 SELENON NM_020451.3(SELENON): c.1636A> G (p.Ile546Val) single nucleotide variant Uncertain significance rs749237378 1:26142072-26142072 1:25815581-25815581
49 SELENON NM_020451.3(SELENON): c.1378T> C (p.Ser460Pro) single nucleotide variant Uncertain significance rs1227306514 1:26139274-26139274 1:25812783-25812783
50 SELENON NM_020451.3(SELENON): c.10G> T (p.Ala4Ser) single nucleotide variant Uncertain significance rs1371866855 1:26126731-26126731 1:25800240-25800240

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

74
# 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
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 11.74 LMNA LAMA2 DMD ACTA1
2
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.29 TTN MYH7 LMNA LAMA2 DMD
3
Striated Muscle Contraction 1 66
11.19 TTN DMD ACTA1
4
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 64
10.41 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 Z disc GO:0030018 9.43 TTN MYH7 DMD
2 striated muscle thin filament GO:0005865 9.16 TTN ACTA1
3 sarcolemma GO:0042383 9.13 LAMA2 DYSF DMD
4 sarcomere GO:0030017 8.8 TTN MYH7 ACTA1

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 9.62 TTN MYH7 DYSF ACTA1
2 skeletal muscle fiber development GO:0048741 9.51 SELENON ACTA1
3 regulation of the force of heart contraction GO:0002026 9.49 MYH7 GAA
4 muscle cell cellular homeostasis GO:0046716 9.48 GAA DMD
5 axoneme assembly GO:0035082 9.46 RSPH4A RSPH1
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.43 SELENON DMD
7 skeletal muscle thin filament assembly GO:0030240 9.4 TTN ACTA1
8 muscle fiber development GO:0048747 9.37 DYSF DMD
9 striated muscle contraction GO:0006941 9.33 TTN MYH7 GAA
10 skeletal muscle tissue regeneration GO:0043403 9.26 DYSF DMD
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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