RSMD1
MCID: RGD003
MIFTS: 55

Rigid Spine Muscular Dystrophy 1 (RSMD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 75 15
Rigid Spine Syndrome 57 12 53 59 75 55 44
Eichsfeld Type Congenital Muscular Dystrophy 12 29 6 73
Rsmd1 57 12 53 75
Mdrs1 57 12 53 75
Rss 57 12 53 75
Desmin-Related Myopathy with Mallory Bodies 57 12 75
Sepn1-Related Myopathy 12 53 75
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 75
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 75
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 75
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 59
Multiminicore Disease Severe Classic Form 75
Dystrophy, Muscular, Rigid Spine, Type 1 40
Severe Classic Form Multicore Myopathy 12
Multicore Myopathy Severe Classic Form 75
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 75
Rigid Spine Muscular Dystrophy-1 53
Rigid Spine Syndrome; Rss 57
Myopathy, Sepn1-Related 57

Characteristics:

Orphanet epidemiological data:

59
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:
Onset and clinical course infantile onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Rigid Spine Muscular Dystrophy 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97244Disease definitionRigid 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 muscle disorders, 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, heart and skeletal muscle, and related phenotypes are high palate and failure to thrive

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 32.4 DMD FHL1 TTN
2 muscle disorders 30.4 COL6A2 RYR1 SELENON
3 respiratory failure 30.4 GAA LAMA2 SELENON TTN
4 muscular dystrophy, congenital, lmna-related 30.1 COL6A2 DMD FKBP14 LAMA2 SELENON TTN
5 scoliosis 29.9 DMD RYR1 SELENON TTN
6 myopathy 29.8 ACTA1 COL6A2 DYSF FHL1 GAA MYH7
7 myopathy, congenital 29.6 ACTA1 DMD DYSF GAA MYH7 RYR1
8 muscular dystrophy 29.3 ACTA1 COL6A2 DMD DYSF FHL1 GAA
9 silver-russell syndrome 12.4
10 robinow-sorauf syndrome 11.7
11 perrault syndrome 1 11.1
12 myopathy, myofibrillar, 1 10.3
13 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DMD TTN
14 foot drop 10.3 ACTA1 FHL1
15 localized lipodystrophy 10.3 DMD DYSF
16 cardiomyopathy, dilated, 1b 10.2 DMD LAMA2
17 myopathy, myofibrillar, 2 10.2 ACTA1 DMD MYH7
18 muscular dystrophy, congenital, 1b 10.2 DMD LAMA2
19 familial isolated dilated cardiomyopathy 10.2 DMD MYH7 TTN
20 isolated hyperckemia 10.2 DMD GAA LAMA2
21 creatine phosphokinase, elevated serum 10.2 DMD GAA LAMA2
22 scapuloperoneal myopathy 10.2 ACTA1 FHL1 MYH7
23 intrinsic cardiomyopathy 10.2 DMD MYH7 TTN
24 myopathy, x-linked, with excessive autophagy 10.2 DMD GAA LAMA2
25 restrictive cardiomyopathy 10.2 ACTA1 MYH7 TTN
26 myofibrillar myopathy 10.2 ACTA1 DMD TTN
27 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 DMD DYSF TTN
28 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 DMD DYSF
29 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 DYSF TTN
30 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 DMD DYSF TTN
31 muscular dystrophy, congenital merosin-deficient, 1a 10.2 DMD LAMA2
32 multiminicore disease 10.2 RYR1 SELENON
33 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 DYSF LAMA2 TTN
34 myopathy, centronuclear, 2 10.2 RYR1 TTN
35 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2 DYSF TTN
36 central core myopathy 10.2 MYH7 RYR1 SELENON
37 atrial standstill 1 10.2 DMD GAA MYH7 TTN
38 muscular dystrophy, becker type 10.2 DMD DYSF LAMA2
39 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 DMD DYSF
40 congenital structural myopathy 10.2 ACTA1 RYR1 SELENON
41 central core disease of muscle 10.2 GAA RYR1 SELENON
42 peripartum cardiomyopathy 10.2 MYH7 TTN
43 myositis 10.2 DMD DYSF TTN
44 ullrich congenital muscular dystrophy 1 10.1 COL6A2 FKBP14 LAMA2
45 smith-magenis syndrome 10.1
46 pontocerebellar hypoplasia, type 2d 10.1 SECISBP2 SELENON
47 centronuclear myopathy 10.1 DMD RYR1 TTN
48 myopathy, proximal, and ophthalmoplegia 10.1 COL6A2 RYR1
49 malignant hyperthermia 10.1 DMD LAMA2 RYR1
50 myopathy, congenital, with fiber-type disproportion 10.1 ACTA1 MYH7 RYR1 SELENON

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

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

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

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 behavior/neurological MP:0005386 10.02 ACTA1 COL6A2 DMD DYSF FHL1 GAA
2 growth/size/body region MP:0005378 10 ACTA1 COL6A2 DMD FHL1 GAA LAMA2
3 homeostasis/metabolism MP:0005376 9.93 ACTA1 DMD DYSF FHL1 GAA LAMA2
4 muscle MP:0005369 9.65 ACTA1 DMD DYSF FHL1 GAA LAMA2
5 skeleton MP:0005390 9.23 ACTA1 DMD GAA LAMA2 RYR1 SECISBP2

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

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

Cochrane evidence based reviews: rigid spine syndrome

Genetic Tests for Rigid Spine Muscular Dystrophy 1

Genetic tests related to Rigid Spine Muscular Dystrophy 1:

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

Anatomical Context for Rigid Spine Muscular Dystrophy 1

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

41
Testes, Heart, Skeletal Muscle

Publications for Rigid Spine Muscular Dystrophy 1

Articles related to Rigid Spine Muscular Dystrophy 1:

(show top 50) (show all 63)
# Title Authors Year
1
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. ( 28224639 )
2017
2
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. ( 27863379 )
2016
3
Rigid Spine Syndrome among Children in Oman. ( 26357557 )
2015
4
Late onset pompe disease mimicking rigid spine syndrome. ( 24534049 )
2014
5
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. ( 25191266 )
2014
6
Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children. ( 23481446 )
2013
7
Rigid spine syndrome revealing late-onset Pompe disease. ( 20005713 )
2010
8
Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus. ( 17694409 )
2008
9
Rigid spine syndrome: a noninvasive cardiac evaluation. ( 17823762 )
2008
10
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). ( 18952429 )
2008
11
Rigid spine syndrome (vacuolar variant). A quantitative electromyograhic study. ( 17375883 )
2007
12
Rigid spine syndrome: vacuolar variant multimodal evoked potentials. ( 18051625 )
2007
13
Anesthesia for Cesarean delivery in a parturient with rigid spine syndrome. ( 16803927 )
2006
14
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. ( 16531044 )
2006
15
Scoliosis correction in an adolescent with a rigid spine syndrome: case report. ( 16227881 )
2005
16
Dysferlinopathy associated with rigid spine syndrome. ( 15641596 )
2004
17
Rigid spine syndrome with chronic respiratory failure. ( 12645194 )
2002
18
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). ( 12207930 )
2002
19
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. ( 11571700 )
2001
20
Response to botulinum toxin in a case of rigid spine syndrome. ( 11601420 )
2001
21
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. ( 10665485 )
2000
22
Rigid spine syndrome with fiber type disproportion. ( 10204795 )
1999
23
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. ( 10545040 )
1999
24
Anaesthetic implications of rigid spine syndrome. ( 10411775 )
1999
25
Rigid spine syndrome. Two case-reports. ( 10418065 )
1999
26
Presence of emerinopathy in cases of rigid spine syndrome. ( 9829281 )
1998
27
Rigid spine syndrome. Case report. ( 10029887 )
1998
28
The rigid spine syndrome due to acid maltase deficiency. ( 9052818 )
1997
29
Airway management and rigid spine syndrome. ( 9052325 )
1997
30
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. ( 7580249 )
1995
31
Two siblings with nemaline myopathy presenting with rigid spine syndrome. ( 7919974 )
1994
32
Respiratory manifestations of rigid spine syndrome. ( 8049843 )
1994
33
Rigid spine syndrome presenting with respiratory failure--report of one case. ( 8368070 )
1993
34
Rigid spine syndrome and nocturnal alveolar hypoventilation. ( 8312662 )
1993
35
The rigid spine syndrome: a vacuolar variant. ( 8515761 )
1993
36
Rigid spine syndrome with selective respiratory muscle weakness. ( 1579718 )
1992
37
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. ( 2010758 )
1991
38
Rigid spine syndrome associated with cardiomyopathy: clinical and nosological considerations. ( 2089184 )
1990
39
Rigid spine syndrome with respiratory failure. ( 2246660 )
1990
40
Rigid spine syndrome and rigid spine sign in myopathies. ( 2794380 )
1989
41
Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome. ( 2614462 )
1989
42
Rigid spine syndrome. Report of 4 cases. ( 2517084 )
1989
43
Rigid spine syndrome and progressive external ophthalmoplegia in a 15-year-old girl. ( 2599274 )
1989
44
The rigid spine syndrome in two sisters. ( 3351513 )
1988
45
Surgical correction of cervical hyperextension in rigid spine syndrome. ( 3374763 )
1988
46
Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome. ( 3688652 )
1987
47
The rigid spine syndrome. ( 3025374 )
1986
48
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. ( 3746364 )
1986
49
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. ( 3802686 )
1986
50
The rigid spine syndrome--a myopathy of uncertain nosological position. ( 4045483 )
1985

Variations for Rigid Spine Muscular Dystrophy 1

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

75
# 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

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh37 Chromosome 1, 26135587: 26135587
2 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh38 Chromosome 1, 25809096: 25809096
3 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh37 Chromosome 1, 26139281: 26139281
4 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh38 Chromosome 1, 25812790: 25812790
5 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh37 Chromosome 1, 26126722: 26126722
6 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh38 Chromosome 1, 25800231: 25800231
7 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908185 GRCh37 Chromosome 1, 26140381: 26140381
8 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908185 GRCh38 Chromosome 1, 25813890: 25813890
9 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh37 Chromosome 1, 26139254: 26139254
10 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh38 Chromosome 1, 25812763: 25812763
11 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
12 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh37 Chromosome 1, 26135246: 26135246
13 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh37 Chromosome 1, 26139280: 26139280
14 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh38 Chromosome 1, 25812789: 25812789
15 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
16 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh38 Chromosome 1, 25809753: 25809753
17 SELENON SEPN1, 92-BP DEL deletion Pathogenic
18 SELENON NM_020451.2(SELENON): c.103G> C (p.Gly35Arg) single nucleotide variant Uncertain significance rs398124359 GRCh37 Chromosome 1, 26126824: 26126824
19 SELENON NM_020451.2(SELENON): c.103G> C (p.Gly35Arg) single nucleotide variant Uncertain significance rs398124359 GRCh38 Chromosome 1, 25800333: 25800333
20 SELENON NM_020451.2(SELENON): c.1173T> C (p.Pro391=) single nucleotide variant Benign rs760597 GRCh37 Chromosome 1, 26138262: 26138262
21 SELENON NM_020451.2(SELENON): c.1173T> C (p.Pro391=) single nucleotide variant Benign rs760597 GRCh38 Chromosome 1, 25811771: 25811771
22 SELENON NM_020451.2(SELENON): c.1246C> T (p.Arg416Trp) single nucleotide variant Uncertain significance rs369207232 GRCh37 Chromosome 1, 26138335: 26138335
23 SELENON NM_020451.2(SELENON): c.1246C> T (p.Arg416Trp) single nucleotide variant Uncertain significance rs369207232 GRCh38 Chromosome 1, 25811844: 25811844
24 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh37 Chromosome 1, 26139211: 26139211
25 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh38 Chromosome 1, 25812720: 25812720
26 SELENON NM_020451.2(SELENON): c.1506C> A (p.Asn502Lys) single nucleotide variant Benign rs2294228 GRCh37 Chromosome 1, 26140573: 26140573
27 SELENON NM_020451.2(SELENON): c.1506C> A (p.Asn502Lys) single nucleotide variant Benign rs2294228 GRCh38 Chromosome 1, 25814082: 25814082
28 SELENON NM_020451.2(SELENON): c.1596C> T (p.Gly532=) single nucleotide variant Conflicting interpretations of pathogenicity rs149623434 GRCh37 Chromosome 1, 26140663: 26140663
29 SELENON NM_020451.2(SELENON): c.1596C> T (p.Gly532=) single nucleotide variant Conflicting interpretations of pathogenicity rs149623434 GRCh38 Chromosome 1, 25814172: 25814172
30 SELENON NM_020451.2(SELENON): c.1654G> A (p.Glu552Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200128474 GRCh37 Chromosome 1, 26142090: 26142090
31 SELENON NM_020451.2(SELENON): c.1654G> A (p.Glu552Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200128474 GRCh38 Chromosome 1, 25815599: 25815599
32 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh37 Chromosome 1, 26127652: 26127652
33 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh38 Chromosome 1, 25801161: 25801161
34 SELENON NM_020451.2(SELENON): c.425G> A (p.Cys142Tyr) single nucleotide variant Benign rs7349185 GRCh37 Chromosome 1, 26131654: 26131654
35 SELENON NM_020451.2(SELENON): c.425G> A (p.Cys142Tyr) single nucleotide variant Benign rs7349185 GRCh38 Chromosome 1, 25805163: 25805163
36 SELENON NM_020451.2(SELENON): c.42C> T (p.Pro14=) single nucleotide variant Benign rs187960531 GRCh37 Chromosome 1, 26126763: 26126763
37 SELENON NM_020451.2(SELENON): c.42C> T (p.Pro14=) single nucleotide variant Benign rs187960531 GRCh38 Chromosome 1, 25800272: 25800272
38 SELENON NM_020451.2(SELENON): c.583G> A (p.Ala195Thr) single nucleotide variant Benign rs115852080 GRCh37 Chromosome 1, 26135116: 26135116
39 SELENON NM_020451.2(SELENON): c.583G> A (p.Ala195Thr) single nucleotide variant Benign rs115852080 GRCh38 Chromosome 1, 25808625: 25808625
40 SELENON NM_020451.2(SELENON): c.981C> T (p.Arg327=) single nucleotide variant Benign/Likely benign rs147587542 GRCh37 Chromosome 1, 26136282: 26136282
41 SELENON NM_020451.2(SELENON): c.981C> T (p.Arg327=) single nucleotide variant Benign/Likely benign rs147587542 GRCh38 Chromosome 1, 25809791: 25809791
42 SELENON NM_020451.2(SELENON): c.409A> G (p.Thr137Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35019869 GRCh37 Chromosome 1, 26131638: 26131638
43 SELENON NM_020451.2(SELENON): c.409A> G (p.Thr137Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35019869 GRCh38 Chromosome 1, 25805147: 25805147
44 SELENON NM_020451.2(SELENON): c.581C> T (p.Ala194Val) single nucleotide variant Uncertain significance rs727504148 GRCh37 Chromosome 1, 26135114: 26135114
45 SELENON NM_020451.2(SELENON): c.581C> T (p.Ala194Val) single nucleotide variant Uncertain significance rs727504148 GRCh38 Chromosome 1, 25808623: 25808623
46 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh37 Chromosome 1, 26126765: 26126793
47 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh38 Chromosome 1, 25800274: 25800302
48 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh37 Chromosome 1, 26126734: 26126743
49 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh38 Chromosome 1, 25800243: 25800252
50 SELENON NM_020451.2(SELENON): c.1428G> A (p.Ser476=) single nucleotide variant Conflicting interpretations of pathogenicity rs41284305 GRCh37 Chromosome 1, 26140412: 26140412

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
11.49 DMD LAMA2 MYH7 TTN
2 11.19 ACTA1 DMD TTN
3 10.08 ACTA1 DMD LAMA2

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 9.73 CLIP1 DMD RSPH1 RSPH3 RSPH4A RSPH9
2 cilium GO:0005929 9.67 RSPH1 RSPH3 RSPH4A RSPH9
3 motile cilium GO:0031514 9.61 RSPH1 RSPH4A RSPH9
4 I band GO:0031674 9.4 RYR1 TTN
5 sarcomere GO:0030017 9.33 ACTA1 MYH7 TTN
6 striated muscle thin filament GO:0005865 9.32 ACTA1 TTN
7 Z disc GO:0030018 9.26 DMD MYH7 RYR1 TTN
8 sarcolemma GO:0042383 9.02 COL6A2 DMD DYSF LAMA2 RYR1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 DMD FHL1 LAMA2
2 skeletal muscle fiber development GO:0048741 9.58 ACTA1 RYR1 SELENON
3 muscle cell cellular homeostasis GO:0046716 9.54 DMD GAA
4 skeletal muscle tissue regeneration GO:0043403 9.54 DMD DYSF SELENON
5 regulation of the force of heart contraction GO:0002026 9.52 GAA MYH7
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 DMD SELENON
7 axoneme assembly GO:0035082 9.5 RSPH1 RSPH4A RSPH9
8 skeletal muscle thin filament assembly GO:0030240 9.48 ACTA1 TTN
9 muscle fiber development GO:0048747 9.46 DMD DYSF
10 cardiac muscle contraction GO:0060048 9.46 DMD GAA MYH7 TTN
11 cellular response to caffeine GO:0071313 9.43 RYR1 SELENON
12 striated muscle contraction GO:0006941 9.43 GAA MYH7 TTN
13 muscle contraction GO:0006936 9.35 ACTA1 DYSF MYH7 RYR1 TTN
14 muscle filament sliding GO:0030049 8.92 ACTA1 DMD MYH7 TTN

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.02 DYSF FKBP14 RYR1 SELENON TTN
2 myosin binding GO:0017022 8.96 ACTA1 DMD

Sources for Rigid Spine Muscular Dystrophy 1

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