RSMD1
MCID: RGD003
MIFTS: 56

Rigid Spine Muscular Dystrophy 1 (RSMD1)

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

Aliases & Classifications for Rigid Spine Muscular Dystrophy 1

MalaCards integrated aliases for Rigid Spine Muscular Dystrophy 1:

Name: Rigid Spine Muscular Dystrophy 1 57 12 72 15
Rigid Spine Syndrome 57 12 20 58 72 54 44
Eichsfeld Type Congenital Muscular Dystrophy 12 29 6 70
Rsmd1 57 12 20 72
Mdrs1 57 12 20 72
Rss 57 12 20 72
Desmin-Related Myopathy with Mallory Bodies 57 12 72
Classic Multiminicore Myopathy 12 58 6
Sepn1-Related Myopathy 12 20 72
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 72
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 58
Multiminicore Disease, Severe Classic Form 57 20
Multicore Myopathy, Severe Classic Form 57 20
Minicore Myopathy, Severe Classic Form 57 20
Early-Onset Desmin-Related Myopathy 12 58
Muscular Dystrophy, Rigid Spine, 1 57 13
Classic Multiminicore Disease 12 58
Classic Mmd 12 58
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 20
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 72
Muscular Dystrophy, Congenital, Eichsfeld Type 57
Desmin-Related Myopathies with Mallory Bodies 20
Congenital Muscular Dystrophy Eichsfeld Type 72
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 58
Multiminicore Disease Severe Classic Form 72
Dystrophy, Muscular, Rigid Spine, Type 1 39
Severe Classic Form Multicore Myopathy 12
Multicore Myopathy Severe Classic Form 72
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 72
Rigid Spine Muscular Dystrophy-1 20
Rigid Spine Syndrome; Rss 57
Myopathy, Sepn1-Related 57
Rigid Spine 6

Characteristics:

Orphanet epidemiological data:

58
rigid spine syndrome
Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
death before adulthood due to respiratory failure (in some patients)


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rigid Spine Muscular Dystrophy 1

GARD : 20 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.

MalaCards based summary : Rigid Spine Muscular Dystrophy 1, also known as rigid spine syndrome, is related to reducing body myopathy and muscular dystrophy, limb-girdle, autosomal recessive 2, 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 and Striated Muscle Contraction. Affiliated tissues include heart, skeletal muscle and trachea, and related phenotypes are scoliosis and respiratory insufficiency

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Rigid spine muscular dystrophy 1: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.

Related Diseases for 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 130)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 32.4 TTN FHL1 DMD
2 muscular dystrophy, limb-girdle, autosomal recessive 2 32.4 TTN LAMA2 GAA DMD
3 rigid spine muscular dystrophy 31.3 SELENON ACTA1
4 myopathy, myofibrillar, 1 31.3 TTN SELENON DMD
5 emery-dreifuss muscular dystrophy 31.1 TTN LAMA2 H2AC18 FHL1 DMD
6 muscular dystrophy 30.9 TTN SELENON MYH7 MDCMP LAMA2 GAA
7 batten-turner congenital myopathy 30.8 TTN SELENON MYH7 MDCMP LAMA2 GAA
8 myopathy, congenital, with fiber-type disproportion 30.7 SELENON MYH7 ACTA1
9 respiratory failure 30.6 TTN SELENON MYH7 LAMA2 H2AC18 GAA
10 scapuloperoneal myopathy 30.6 MYH7 FHL1 ACTA1
11 muscular dystrophy, congenital, lmna-related 30.6 TTN SELENON MYH7 LAMA2 FHL1 DMD
12 hypertrophic cardiomyopathy 30.6 TTN MYH7 LAMA2 GAA FHL1 DMD
13 multiminicore disease 30.5 TTN SELENON
14 malignant hyperthermia 30.5 SELENON MYH7 LAMA2 DMD
15 atrial standstill 1 30.5 TTN MYH7 GAA DMD
16 congenital fiber-type disproportion 30.5 TTN SELENON SECISBP2 MYH7 LAMA2 DMD
17 centronuclear myopathy 30.4 TTN SELENON DMD ACTA1
18 neuromuscular disease 30.2 TTN SELENON MYH7 LAMA2 H2AC18 GAA
19 myopathy 30.1 YARS2 TTN SELENON SECISBP2 MYH7 LAMA2
20 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.8
21 silver-russell syndrome 1 11.6
22 robinow-sorauf syndrome 11.2
23 myasthenic syndrome, congenital, 25, presynaptic 11.2
24 muscular dystrophy, congenital, merosin-positive 11.1
25 myopathy, myofibrillar, 6 11.0
26 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 TTN DMD
27 foot drop 10.5 TTN FHL1 ACTA1
28 pontocerebellar hypoplasia, type 2d 10.5 SEPSECS SELENON SECISBP2
29 congenital muscular dystrophy-dystroglycanopathy type a10 10.5 SELENON LAMA2
30 cardiomyopathy, familial hypertrophic, 4 10.5 TTN MYH7 DMD
31 hyaline body myopathy 10.5 TTN SELENON MYH7 ACTA1
32 congenital structural myopathy 10.5 TTN SELENON MYH7 ACTA1
33 autosomal dominant distal myopathy 10.5 TTN MYH7 DMD ACTA1
34 autosomal recessive limb-girdle muscular dystrophy 10.5 TTN LAMA2 DMD
35 autosomal recessive limb-girdle muscular dystrophy type 2a 10.5 TTN LAMA2 DMD
36 tibial muscular dystrophy 10.5 TTN MYH7 DMD
37 muscular dystrophy, congenital merosin-deficient, 1a 10.5 SELENON LAMA2 DMD
38 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.5 TTN SELENON DMD
39 progressive muscular dystrophy 10.5 FHL1 DMD
40 congenital muscular dystrophy-dystroglycanopathy a14 10.5 SELENON LAMA2
41 creatine phosphokinase, elevated serum 10.4 LAMA2 GAA DMD
42 myopathy, myofibrillar, 5 10.4 TTN SELENON DMD
43 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 TTN DMD
44 intrinsic cardiomyopathy 10.4 TTN MYH7 H2AC18 DMD
45 bethlem myopathy 1 10.4 SELENON MYH7 LAMA2 DMD
46 muscle hypertrophy 10.4 TTN FHL1 DMD
47 ullrich congenital muscular dystrophy 1 10.4 SELENON MDCMP LAMA2 DMD
48 restrictive cardiomyopathy 10.4 TTN MYH7 DMD ACTA1
49 pontocerebellar hypoplasia 10.4 SEPSECS MDCMP LAMA2 H2AC18
50 central core disease of muscle 10.4 SELENON GAA

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 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 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
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 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
10 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
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 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
24 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
25 limited neck flexion 58 31 frequent (33%) Frequent (79-30%) HP:0005991
26 cardiac conduction abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0031546
27 hamstring contractures 58 31 frequent (33%) Frequent (79-30%) HP:0003089
28 abnormality on pulmonary function testing 58 31 frequent (33%) Frequent (79-30%) HP:0030878
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 facial palsy 31 HP:0010628
45 flexion contracture 31 HP:0001371
46 motor delay 31 HP:0001270
47 nasal speech 31 HP:0001611
48 muscular dystrophy 31 HP:0003560
49 generalized muscle weakness 31 HP:0003324
50 reduced vital capacity 31 HP:0002792

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
Head And Neck Neck:
limited neck flexion

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

Respiratory:
reduced vital capacity
nocturnal hypoventilation
restrictive respiratory syndrome

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 20-May-2021)

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 muscle MP:0005369 9.23 ACTA1 DMD FHL1 GAA LAMA2 MYH7

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883

Search 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 29 SELENON

Anatomical Context for Rigid Spine Muscular Dystrophy 1

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

40
Heart, Skeletal Muscle, Trachea, Spinal Cord

Publications for Rigid Spine Muscular Dystrophy 1

Articles related to Rigid Spine Muscular Dystrophy 1:

(show top 50) (show all 184)
# 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. 6 57 54 61
12192640 2002
2
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 6 57 61
11528383 2001
3
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 6 57
19557870 2009
4
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 57 6
15668457 2005
5
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 6 57
15122708 2004
6
A form of congenital muscular dystrophy. 6 57
7224095 1980
7
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. 57 61 54
10545040 1999
8
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 6 54
16779558 2006
9
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 61 57
10665485 2000
10
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. 61 57
9585610 1998
11
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 61 57
7919974 1994
12
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. 61 57
2010758 1991
13
[Rigid-spine syndrome in a female patient (author's transl)]. 57 61
7100735 1982
14
Rigid spine syndrome in a girl. 57 61
6188813 1982
15
Rigid spine syndrome. 61 57
438838 1979
16
Rigid spine syndrome: a muscle syndrome in search of a name. 61 57
4697975 1973
17
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. 57
32796131 2020
18
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
19
Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies. 6
28558865 2017
20
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 6
27447704 2017
21
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 6
27066551 2015
22
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. 6
24988964 2014
23
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 6
23394784 2013
24
Active human retrotransposons: variation and disease. 6
22406018 2012
25
SEPN1-related myopathies: clinical course in a large cohort of patients. 6
21670436 2011
26
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. 6
21131290 2011
27
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 6
20937510 2011
28
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 6
20307669 2010
29
The impact of retrotransposons on human genome evolution. 6
19763152 2009
30
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 6
19067361 2009
31
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 6
18713863 2008
32
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 6
17951086 2008
33
Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. 6
16900928 2006
34
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. 6
16498447 2006
35
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 6
16365872 2006
36
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 6
15792869 2005
37
Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands. 57
12207939 2002
38
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 57
11079538 2000
39
Minicore myopathy in children: a clinical and histopathological study of 19 cases. 57
10838253 2000
40
50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands. 57
10712016 1997
41
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. 57
7561954 1995
42
Minicore myopathy with dominant inheritance. 57
3806134 1987
43
Severe multicore disease associated with reaction to anesthesia. 57
4062619 1985
44
Cytoplasmic body myopathy. Report on a family and review of the literature. 57
6886734 1983
45
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. 57
6343859 1983
46
Autosomal dominant multicore disease. 57
7077346 1982
47
Myopathy with multiple minicore--report of two siblings. 57
6448277 1980
48
Common origin of rods, cores, miniature cores, and focal loss of cross-striations. 57
687182 1978
49
Multicore disease in twins. 57
985853 1976
50
[Development and current state of hepatology]. 6
1219264 1975

Variations for Rigid Spine Muscular Dystrophy 1

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SELENON SELENON, 92-BP DEL Deletion Pathogenic 4497 GRCh37:
GRCh38:
2 SELENON Insertion Pathogenic 870306 GRCh37:
GRCh38:
3 SELENON NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) SNV Pathogenic 4489 rs121908182 GRCh37: 1:26135587-26135587
GRCh38: 1:25809096-25809096
4 SELENON NM_020451.2(SELENON):c.1385G>A (p.Sec462=) SNV Pathogenic 4490 rs587776597 GRCh37: 1:26139281-26139281
GRCh38: 1:25812790-25812790
5 SELENON NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) SNV Pathogenic 4493 rs121908186 GRCh37: 1:26139254-26139254
GRCh38: 1:25812763-25812763
6 SELENON NM_020451.3(SELENON):c.1384T>G SNV Pathogenic 4495 rs121908187 GRCh37: 1:26139280-26139280
GRCh38: 1:25812789-25812789
7 SELENON NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) SNV Pathogenic 461630 rs960468382 GRCh37: 1:26140453-26140453
GRCh38: 1:25813962-25813962
8 SELENON NM_020451.3(SELENON):c.2T>G (p.Met1Arg) SNV Pathogenic 461632 rs1174570887 GRCh37: 1:26126723-26126723
GRCh38: 1:25800232-25800232
9 SELENON NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) SNV Pathogenic 461634 rs1553120047 GRCh37: 1:26135198-26135198
GRCh38: 1:25808707-25808707
10 SELENON NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) SNV Pathogenic 461629 rs779162837 GRCh37: 1:26140390-26140390
GRCh38: 1:25813899-25813899
11 SELENON NM_020451.3(SELENON):c.2T>C (p.Met1Thr) SNV Pathogenic 530813 rs1174570887 GRCh37: 1:26126723-26126723
GRCh38: 1:25800232-25800232
12 SELENON NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) SNV Pathogenic 530817 rs1553120202 GRCh37: 1:26136222-26136222
GRCh38: 1:25809731-25809731
13 SELENON NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) SNV Pathogenic 574438 rs1557814050 GRCh37: 1:26126887-26126887
GRCh38: 1:25800396-25800396
14 SELENON NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) SNV Pathogenic 575921 rs760063405 GRCh37: 1:26139271-26139271
GRCh38: 1:25812780-25812780
15 SELENON NM_020451.3(SELENON):c.3_7GGGCC[3] (p.Arg5fs) Microsatellite Pathogenic 623320 rs1572226744 GRCh37: 1:26126723-26126724
GRCh38: 1:25800232-25800233
16 SELENON NM_020451.3(SELENON):c.-55_183del Deletion Pathogenic 659413 rs1572226620 GRCh37: 1:26126666-26126903
GRCh38: 1:25800175-25800412
17 SELENON NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) SNV Pathogenic 664698 rs747284477 GRCh37: 1:26138269-26138269
GRCh38: 1:25811778-25811778
18 SELENON NM_020451.3(SELENON):c.-64_36del Deletion Pathogenic 665196 rs1572226578 GRCh37: 1:26126650-26126749
GRCh38: 1:25800159-25800258
19 SELENON NM_020451.3(SELENON):c.1209dup (p.Lys404fs) Duplication Pathogenic 835943 GRCh37: 1:26138297-26138298
GRCh38: 1:25811806-25811807
20 SELENON NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) SNV Pathogenic 837936 GRCh37: 1:26131710-26131710
GRCh38: 1:25805219-25805219
21 SELENON NM_020451.3(SELENON):c.1010+1G>A SNV Pathogenic 837938 GRCh37: 1:26136312-26136312
GRCh38: 1:25809821-25809821
22 SELENON NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) Duplication Pathogenic 193432 rs797044621 GRCh37: 1:26126724-26126725
GRCh38: 1:25800233-25800234
23 SELENON NM_020451.3(SELENON):c.300del (p.Ser102fs) Deletion Pathogenic 662908 rs1269951927 GRCh37: 1:26127650-26127650
GRCh38: 1:25801159-25801159
24 SELENON NM_020451.3(SELENON):c.863_864del (p.Val288fs) Microsatellite Pathogenic 944327 GRCh37: 1:26135630-26135631
GRCh38: 1:25809139-25809140
25 SELENON NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) SNV Pathogenic 945382 GRCh37: 1:26128577-26128577
GRCh38: 1:25802086-25802086
26 SELENON NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) SNV Pathogenic 952054 GRCh37: 1:26135098-26135098
GRCh38: 1:25808607-25808607
27 SELENON NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) Duplication Pathogenic 954787 GRCh37: 1:26126739-26126740
GRCh38: 1:25800248-25800249
28 SELENON NM_020451.3(SELENON):c.643del (p.Gln215fs) Deletion Pathogenic 956974 GRCh37: 1:26135175-26135175
GRCh38: 1:25808684-25808684
29 SELENON NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) Duplication Pathogenic 193429 rs797044620 GRCh37: 1:26126761-26126762
GRCh38: 1:25800270-25800271
30 SELENON NM_020451.3(SELENON):c.1A>G (p.Met1Val) SNV Pathogenic 4491 rs121908184 GRCh37: 1:26126722-26126722
GRCh38: 1:25800231-25800231
31 SELENON NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) SNV Pathogenic 95958 rs377215510 GRCh37: 1:26139211-26139211
GRCh38: 1:25812720-25812720
32 SELENON NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) Duplication Pathogenic 523931 rs1553198611 GRCh37: 1:26127596-26127597
GRCh38: 1:25801105-25801106
33 SELENON NM_020451.3(SELENON):c.997_1000del (p.Val333fs) Deletion Pathogenic 280493 rs886041686 GRCh37: 1:26136297-26136300
GRCh38: 1:25809806-25809809
34 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV Pathogenic 4492 rs121908185 GRCh37: 1:26140381-26140381
GRCh38: 1:25813890-25813890
35 SELENON NM_020451.3(SELENON):c.713dup (p.Asn238fs) Duplication Pathogenic 4494 rs368104077 GRCh37: 1:26135244-26135245
GRCh38: 1:25808753-25808754
36 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) SNV Pathogenic 280026 rs199564797 GRCh37: 1:26135641-26135641
GRCh38: 1:25809150-25809150
37 SELENON NM_020451.3(SELENON):c.-11_81del (p.Met1fs) Deletion Pathogenic 373075 rs1557813850 GRCh37: 1:26126703-26126794
GRCh38: 1:25800212-25800303
38 SELENON NM_020451.3(SELENON):c.713dup (p.Asn238fs) Duplication Pathogenic 4494 rs368104077 GRCh37: 1:26135244-26135245
GRCh38: 1:25808753-25808754
39 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) SNV Pathogenic 4496 rs121908188 GRCh37: 1:26136244-26136244
GRCh38: 1:25809753-25809753
40 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) SNV Pathogenic/Likely pathogenic 4496 rs121908188 GRCh37: 1:26136244-26136244
GRCh38: 1:25809753-25809753
41 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) SNV Likely pathogenic 280026 rs199564797 GRCh37: 1:26135641-26135641
GRCh38: 1:25809150-25809150
42 SELENON NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) SNV Likely pathogenic 586530 rs745886248 GRCh37: 1:26138201-26138201
GRCh38: 1:25811710-25811710
43 TTN NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) SNV Likely pathogenic 196800 rs148920986 GRCh37: 2:179638314-179638314
GRCh38: 2:178773587-178773587
44 SELENON NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) SNV Likely pathogenic 657794 rs368074297 GRCh37: 1:26135571-26135571
GRCh38: 1:25809080-25809080
45 SELENON NM_020451.3(SELENON):c.872+1G>A SNV Likely pathogenic 974822 GRCh37: 1:26135642-26135642
GRCh38: 1:25809151-25809151
46 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 GRCh37: 4:25158473-25158473
GRCh38: 4:25156851-25156851
47 SELENON NM_020451.3(SELENON):c.1387+1G>A SNV Likely pathogenic 1028166 GRCh37: 1:26139284-26139284
GRCh38: 1:25812793-25812793
48 SELENON NM_020451.3(SELENON):c.404-1G>A SNV Likely pathogenic 963511 GRCh37: 1:26131632-26131632
GRCh38: 1:25805141-25805141
49 SELENON NM_020451.3(SELENON):c.-26_12del (p.Met1fs) Deletion Likely pathogenic 844164 GRCh37: 1:26126689-26126726
GRCh38: 1:25800198-25800235
50 SELENON NM_020451.3(SELENON):c.*1107T>C SNV Likely pathogenic 844320 GRCh37: 1:26143316-26143316
GRCh38: 1:25816825-25816825

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

72
# 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
11.53 TTN MYH7 LAMA2 DMD
2 11.19 TTN DMD ACTA1
3 10.08 LAMA2 DMD 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 cell projection GO:0042995 9.88 RSPH6A RSPH3 DMD CFAP91 CFAP61 CCDC65
2 cytoskeleton GO:0005856 9.87 RSPH6A RSPH3 DMD CFAP91 CFAP61 CCDC65
3 Z disc GO:0030018 9.54 TTN MYH7 DMD
4 motile cilium GO:0031514 9.46 RSPH6A CFAP91 CFAP61 CCDC65
5 striated muscle thin filament GO:0005865 9.26 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 9.58 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 regulation of the force of heart contraction GO:0002026 9.48 MYH7 GAA
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.46 SELENON DMD
7 cilium movement GO:0003341 9.43 RSPH6A CFAP91 CFAP61
8 selenocysteine incorporation GO:0001514 9.37 SEPSECS SECISBP2
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 for Rigid Spine Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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