RSS
MCID: RGD001
MIFTS: 51

Rigid Spine Syndrome (RSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Rigid Spine Syndrome

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MalaCards based summary: Rigid Spine Syndrome, also known as desmin-related myopathies with mallory bodies, is related to emery-dreifuss muscular dystrophy and respiratory failure, and has symptoms including An important gene associated with Rigid Spine Syndrome is SEPN1 (selenoprotein N, 1), and among its related pathways are Striated Muscle Contraction and Hypertrophic cardiomyopathy (HCM). The compounds actomyosin and agarose have been mentioned in the context of this disorder. Related mouse phenotypes are skeleton and muscle.

Description from OMIM:46 602771

Aliases & Classifications for Rigid Spine Syndrome

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Sources:
62UMLS, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet
See all sources

Rigid Spine Syndrome, Aliases & Descriptions:

Name: Rigid Spine Syndrome 42 44 48
Desmin-Related Myopathies with Mallory Bodies 42 62
Rsmd1 42 62
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 42
Desmin-Related Myopathy with Mallory Body-Like Inclusions 48
Minicore Myopathy with External Ophthalmoplegia 62
Eichsfeld Type Congenital Muscular Dystrophy 62
Multiminicore Disease, Severe Classic Form 42
Rigid Spine Congenital Muscular Dystrophy 48
Multicore Myopathy, Severe Classic Form 42
 
Minicore Myopathy, Severe Classic Form 42
Early-Onset Desmin-Related Myopathy 48
Muscular Dystrophy, Rigid Spine, 1 46
Rigid Spine Muscular Dystrophy-1 42
Rigid Spine Muscular Dystrophy 1 62
Classic Multiminicore Myopathy 48
Classic Multiminicore Disease 48
Classic Mmd 48
Mdrs1 42
Rss 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
rigid spine syndrome:
Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 G71.2, G71.8
OMIM46 602771
MESH via Orphanet35 C535683

Related Diseases for Rigid Spine Syndrome

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Diseases related to Rigid Spine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy30.7EMD
2respiratory failure30.6MDCMP, GAA, TTN
3muscular dystrophy30.0DMD, TTN, EMD, SEPN1, GAA, MDCMP
4myopathy29.4DMD, TTN, EMD, SEPN1, MYH7, FHL1
5silver-russell syndrome10.5
6danon disease10.4GAA
7congenital muscular dystrophy10.4
8congenital fiber-type disproportion10.4SEPN1
9facioscapulohumeral muscular dystrophy10.3DMD, GAA
10glycogen storage disease ii10.3DMD, GAA
11central core myopathy10.3SEPN1, GAA
12limb-girdle muscular dystrophy, type 2g10.2DMD, TTN
13spinal muscular atrophy10.2GAA, DMD
14limb-girdle muscular dystrophy type 2f10.2TTN, DMD
15limb-girdle muscular dystrophy, type 2b10.2TTN, DMD
16glycogen storage disease10.2GAA, DMD
17calpainopathy10.2DMD, TTN
18centronuclear myopathy10.2DMD, TTN
19dermatomyositis10.2GAA, DMD
20nemaline myopathy10.1
21cerebritis10.1
22cervicitis10.1
23ophthalmoplegia10.1
24dysferlinopathy10.1
25emerinopathy10.1
26reducing body myopathy10.1
27myopathy, myofibrillar, 110.1
28myasthenia gravis10.1TTN, DMD
29rhabdomyosarcoma10.1TTN, DMD
30duchenne muscular dystrophy10.1DMD, TTN, GAA
31polymyositis10.1GAA, TTN, DMD
32minicore myopathy with external ophthalmoplegia10.1
33mental retardation10.1MDCMP, GAA, DMD
34limb-girdle muscular dystrophy10.0EMD, TTN, DMD
35familial hypertrophic cardiomyopathy10.0TTN, MYH7
36sudden cardiac death multi-gene panels10.0MYH7, EMD
37myositis10.0TTN, DMD
38myotonic dystrophy10.0GAA, MYH7, DMD
39hypertrophic cardiomyopathy9.9GAA, MYH7, TTN
40neuromuscular disease9.9DMD, TTN, EMD, GAA
41neuropathy9.9DMD, TTN, EMD, SEPN1
42distal muscular dystrophy9.7DMD, TTN, MYH7, GAA
43ischemia9.7DMD, TTN, MYH7
44dilated cardiomyopathy9.7MYH7, EMD, TTN, DMD
45noonan syndrome9.5GAA, MYH7, EMD, TTN, DMD
46congenital heart disease9.5GAA, MYH7, EMD, TTN, DMD
47myopathy congenital9.4DMD, TTN, SEPN1, MYH7, GAA, MDCMP

Graphical network of the top 20 diseases related to Rigid Spine Syndrome:



Diseases related to rigid spine syndrome

Symptoms for Rigid Spine Syndrome

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Symptoms by clinical synopsis from OMIM:

602771

Clinical features from OMIM:

602771

HPO human phenotypes related to Rigid Spine Syndrome:

(show all 26)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 muscular hypotonia HP:0001252
4 motor delay HP:0001270
5 flexion contracture HP:0001371
6 failure to thrive HP:0001508
7 abnormality of the rib cage HP:0001547
8 nasal speech HP:0001611
9 high pitched voice HP:0001620
10 restrictive respiratory insufficiency HP:0002111
11 poor head control HP:0002421
12 scoliosis HP:0002650
13 reduced vital capacity HP:0002792
14 nocturnal hypoventilation HP:0002877
15 spinal rigidity HP:0003306
16 generalized muscle weakness HP:0003324
17 axial muscle weakness HP:0003327
18 increased variability in muscle fiber diameter HP:0003557
19 muscular dystrophy HP:0003560
20 infantile onset HP:0003593
21 nonprogressive disorder HP:0003680
22 generalized amyotrophy HP:0003700
23 type 1 and type 2 muscle fiber minicore regions HP:0003787
24 short stature HP:0004322
25 limited neck flexion HP:0005991
26 facial palsy HP:0010628

Drugs & Therapeutics for Rigid Spine Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rigid Spine Syndrome

Search NIH Clinical Center for Rigid Spine Syndrome

Genetic Tests for Rigid Spine Syndrome

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Anatomical Context for Rigid Spine Syndrome

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Animal Models for Rigid Spine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rigid Spine Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6GAA, SEPN1, TTN, DMD
2MP:00053698.3GAA, DMD, TTN, EMD, SEPN1
3MP:00053848.1DMD, TTN, EMD, SEPN1, GAA
4MP:00053767.9GAA, FHL1, SEPN1, TTN, DMD
5MP:00053857.7DMD, TTN, EMD, FHL1, GAA
6MP:00053787.6DMD, TTN, SEPN1, FHL1, GAA
7MP:00053867.4DMD, TTN, EMD, SEPN1, FHL1, GAA

Publications for Rigid Spine Syndrome

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Articles related to Rigid Spine Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children. (23481446)
2013
2
Rigid spine syndrome revealing late-onset Pompe disease. (20005713)
2010
3
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). (18952429)
2008
4
Rigid spine syndrome: a noninvasive cardiac evaluation. (17823762)
2008
5
Rigid spine syndrome (vacuolar variant). A quantitative electromyograhic study. (17375883)
2007
6
Rigid spine syndrome: vacuolar variant multimodal evoked potentials. (18051625)
2007
7
Anesthesia for Cesarean delivery in a parturient with rigid spine syndrome. (16803927)
2006
8
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. (16531044)
2006
9
Scoliosis correction in an adolescent with a rigid spine syndrome: case report. (16227881)
2005
10
Dysferlinopathy associated with rigid spine syndrome. (15641596)
2004
11
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). (12207930)
2002
12
Rigid spine syndrome with chronic respiratory failure. (12645194)
2002
13
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (11571700)
2001
14
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. (10665485)
2000
15
Anaesthetic implications of rigid spine syndrome. (10411775)
1999
16
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. (10545040)
1999
17
Rigid spine syndrome. Two case-reports. (10418065)
1999
18
Rigid spine syndrome with fiber type disproportion. (10204795)
1999
19
Presence of emerinopathy in cases of rigid spine syndrome. (9829281)
1998
20
Rigid spine syndrome. Case report. (10029887)
1998
21
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. (7580249)
1995
22
Respiratory manifestations of rigid spine syndrome. (8049843)
1994
23
Two siblings with nemaline myopathy presenting with rigid spine syndrome. (7919974)
1994
24
The rigid spine syndrome: a vacuolar variant. (8515761)
1993
25
Rigid spine syndrome presenting with respiratory failure--report of one case. (8368070)
1993
26
Rigid spine syndrome and nocturnal alveolar hypoventilation. (8312662)
1993
27
Rigid spine syndrome with selective respiratory muscle weakness. (1579718)
1992
28
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. (2010758)
1991
29
Rigid spine syndrome with respiratory failure. (2246660)
1990
30
Rigid spine syndrome and rigid spine sign in myopathies. (2794380)
1989
31
Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome. (2614462)
1989
32
The rigid spine syndrome in two sisters. (3351513)
1988
33
Surgical correction of cervical hyperextension in rigid spine syndrome. (3374763)
1988
34
Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome. (3688652)
1987
35
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. (3802686)
1986
36
The rigid spine syndrome. (3025374)
1986
37
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. (3746364)
1986
38
Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients. (3998773)
1985
39
The rigid spine syndrome--a myopathy of uncertain nosological position. (4045483)
1985
40
Is rigid spine syndrome a distinct clinical entity? (6621615)
1983
41
Congenital muscular dystrophy and rigid spine syndrome. (6877535)
1983
42
Rigid spine syndrome. Some evidence of varying pathological patterns. (6654688)
1983
43
Rigid spine syndrome in a girl. (6188813)
1982
44
Rigid spine syndrome: clinical and histological problems. (6186785)
1981
45
Rigid spine syndrome: histological examinations of male and female cases. (6452788)
1981
46
Rigid spine syndrome and fatal cardiomyopathy. (7193439)
1981
47
Rigid spine syndrome. (438838)
1979
48
Fibre type disproportion in the rigid spine syndrome. (579444)
1977
49
Rigid spine syndrome. A type I fiber myopathy. (836180)
1977
50
Rigid spine syndrome: a muscle syndrome in search of a name. (4697975)
1973

Variations for Rigid Spine Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Rigid Spine Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SEPN1p.Gly273GluVAR_019635
2SEPN1p.His293ArgVAR_019636
3SEPN1p.Gly315SerVAR_019637
4SEPN1p.Asn340IleVAR_019638
5SEPN1p.Trp453SerVAR_019639
6SEPN1p.Sec462GlyVAR_019640
7SEPN1p.Arg466GlnVAR_019641
8SEPN1p.Gly463ValVAR_058462
9SEPN1p.Arg469GlnVAR_058463
10SEPN1p.Arg469TrpVAR_058464

Clinvar genetic disease variations for Rigid Spine Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SEPN1NM_020451.2(SEPN1): c.818G> A (p.Gly273Glu)single nucleotide variantPathogenicrs121908182GRCh37Chr 1, 26135587: 26135587
2SEPN1NM_020451.2(SEPN1): c.1385G> A (p.Sec462=)single nucleotide variantPathogenicGRCh37Chr 1, 26139280: 26139282
3SEPN1NM_020451.2(SEPN1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121908184GRCh37Chr 1, 26126722: 26126722
4SEPN1NM_020451.2(SEPN1): c.1397G> A (p.Arg466Gln)single nucleotide variantPathogenicrs121908185GRCh37Chr 1, 26140381: 26140381
5SEPN1NM_020451.2(SEPN1): c.1358G> C (p.Trp453Ser)single nucleotide variantPathogenicrs121908186GRCh37Chr 1, 26139254: 26139254
6SEPN1SEPN1, 1-BP INS, 713AinsertionPathogenic
7SEPN1NM_020451.2(SEPN1): c.1384T> G (p.Sec462Gly)single nucleotide variantPathogenicrs121908187GRCh37Chr 1, 26139280: 26139280
8SEPN1NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)single nucleotide variantPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244
9SEPN1SEPN1, 92-BP DELdeletionPathogenic

Expression for genes affiliated with Rigid Spine Syndrome

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Expression patterns in normal tissues for genes affiliated with Rigid Spine Syndrome

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Pathways for genes affiliated with Rigid Spine Syndrome

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Pathways related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TTN, DMD
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
8.6MYH7, EMD, TTN, DMD

Compounds for genes affiliated with Rigid Spine Syndrome

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Compounds related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1actomyosin449.8TTN, MYH7
2agarose449.6TTN, DMD
3ryanodine44 28 6111.6MYH7, SEPN1, TTN
4polyacrylamide449.4MYH7, TTN, DMD
5bromodeoxyuridine449.3MYH7, DMD
6gold449.3DMD, TTN, GAA
7glycogen44 2410.1DMD, TTN, GAA
8arginine449.0GAA, MYH7, DMD
9creatinine448.9GAA, MYH7, TTN, DMD
10atp44 289.6FHL1, MYH7, TTN, DMD
11calcium44 50 24 1111.3MYH7, SEPN1, EMD, TTN, DMD

GO Terms for genes affiliated with Rigid Spine Syndrome

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Cellular components related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.7MYH7, TTN

Biological processes related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:0075129.8MYH7, TTN
2striated muscle contractionGO:0069419.7MYH7, TTN
3ventricular cardiac muscle tissue morphogenesisGO:0550109.6GAA, MYH7
4regulation of the force of heart contractionGO:0020269.5MYH7, GAA
5muscle filament slidingGO:0300499.4DMD, TTN, MYH7
6regulation of heart rateGO:0020279.3MYH7, DMD
7cardiac muscle contractionGO:0600489.3DMD, TTN, GAA
8muscle contractionGO:0069369.2TTN, EMD, MYH7
9muscle organ developmentGO:0075178.3GAA, FHL1, EMD, DMD

Molecular functions related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.5TTN, DMD
2calcium ion bindingGO:0055099.3SEPN1, TTN, DMD
3actin bindingGO:0037799.0MYH7, EMD, DMD
4protein bindingGO:0055157.1DMD, TTN, EMD, SEPN1, MYH7, FHL1

Products for genes affiliated with Rigid Spine Syndrome

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Sources for Rigid Spine Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet