RSS
MCID: RGD001
MIFTS: 50

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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47OMIM, 33MalaCards
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MalaCards: Rigid Spine Syndrome, also known as muscular dystrophy, congenital, merosin positive with early spine rigidity, is related to muscular dystrophy and respiratory failure. 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:47 602771

Aliases & Classifications for Rigid Spine Syndrome

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62UMLS, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
rigid spine syndrome:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

rigid spine syndrome 43 45 49
muscular dystrophy, congenital, merosin positive with early spine rigidity 43
desmin-related myopathy with mallory body-like inclusions 49
minicore myopathy with external ophthalmoplegia 62
desmin-related myopathies with mallory bodies 43
eichsfeld type congenital muscular dystrophy 62
multiminicore disease, severe classic form 43
rigid spine congenital muscular dystrophy 49
multicore myopathy, severe classic form 43
minicore myopathy, severe classic form 43
early-onset desmin-related myopathy 49
muscular dystrophy, rigid spine, 1 47
rigid spine muscular dystrophy-1 43
classic multiminicore myopathy 49
classic multiminicore disease 49
classic mmd 49
mdrs1 43
rsmd1 43
rss 43


External Ids:

OMIM47 602771
ICD10 via Orphanet26 G71.2, G71.8
MESH via Orphanet36 C535683

Related Diseases for Rigid Spine Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Rigid Spine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.6MDCMP, GAA, SEPN1, TTN, EMD, DMD
2respiratory failure30.6MDCMP, TTN, GAA
3myopathy30.4SEPN1, GAA, FHL1, MYH7, EMD, TTN
4emery-dreifuss muscular dystrophy30.3EMD
5silver-russell syndrome10.5
6congenital muscular dystrophy10.4
7nemaline myopathy10.1
8cerebritis10.1
9cervicitis10.1
10ophthalmoplegia10.1
11emerinopathy10.1
12reducing body myopathy10.1
13myopathy, myofibrillar, 110.1
14danon disease10.1GAA
15congenital fiber-type disproportion10.1SEPN1
16facioscapulohumeral muscular dystrophy10.1GAA, DMD
17glycogen storage disease ii10.1GAA, DMD
18central core myopathy10.1SEPN1, GAA
19spinal muscular atrophy10.1GAA, DMD
20limb-girdle muscular dystrophy, type 2g10.1TTN, DMD
21protein s deficiency10.1GAA, DMD
22limb-girdle muscular dystrophy type 2f10.1DMD, TTN
23minicore myopathy with external ophthalmoplegia10.0
24limb-girdle muscular dystrophy, type 2b10.0DMD, TTN
25calpainopathy10.0TTN, DMD
26glycogen storage disease10.0GAA, DMD
27centronuclear myopathy10.0DMD, TTN
28dermatomyositis10.0DMD, GAA
29myasthenia gravis10.0TTN, DMD
30duchenne muscular dystrophy10.0GAA, TTN, DMD
31rhabdomyosarcoma10.0TTN, DMD
32polymyositis10.0TTN, DMD, GAA
33mental retardation10.0DMD, MDCMP, GAA
34limb-girdle muscular dystrophy10.0DMD, TTN, EMD
35familial hypertrophic cardiomyopathy10.0MYH7, TTN
36myositis10.0TTN, DMD
37myotonic dystrophy10.0MYH7, GAA, DMD
38sudden cardiac death multi-gene panels10.0MYH7, EMD
39hypertrophic cardiomyopathy10.0TTN, GAA, MYH7
40neuromuscular disease10.0DMD, GAA, EMD, TTN
41neuropathy10.0TTN, EMD, SEPN1, DMD
42distal muscular dystrophy9.9DMD, TTN, GAA, MYH7
43ischemia9.9MYH7, DMD, TTN
44dilated cardiomyopathy9.9TTN, MYH7, DMD, EMD
45noonan syndrome9.9MYH7, DMD, TTN, EMD, GAA
46congenital heart disease9.9TTN, DMD, GAA, EMD, MYH7
47hypertrophy of breast9.9GAA, DMD, FHL1, MYH7, TTN
48myopathy congenital9.9GAA, MYH7, SEPN1, DMD, TTN, 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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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

602771

Clinical features from OMIM:

602771

Drugs & Therapeutics for Rigid Spine Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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37MGI
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MGI Mouse Phenotypes related to Rigid Spine Syndrome:

37
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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Sources:
52PubMed
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Articles related to Rigid Spine Syndrome:

(show top 50)    (show all 57)
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
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). (12207930)
2002
11
Rigid spine syndrome with chronic respiratory failure. (12645194)
2002
12
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (11571700)
2001
13
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. (10665485)
2000
14
Anaesthetic implications of rigid spine syndrome. (10411775)
1999
15
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. (10545040)
1999
16
Rigid spine syndrome. Two case-reports. (10418065)
1999
17
Rigid spine syndrome with fiber type disproportion. (10204795)
1999
18
Presence of emerinopathy in cases of rigid spine syndrome. (9829281)
1998
19
Rigid spine syndrome. Case report. (10029887)
1998
20
The rigid spine syndrome due to acid maltase deficiency. (9052818)
1997
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)single nucleotide variantPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
2RYR1NM_000540.2(RYR1): c.14647-1449A> Gsingle nucleotide variantPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
3RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
4RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)single nucleotide variantPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
5RYR1NM_000540.2(RYR1): c.14365-2A> Tsingle nucleotide variantPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
6RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)single nucleotide variantPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
7RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
8RYR1NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr)single nucleotide variantBenign, Pathogenicrs148772854GRCh37Chr 19, 39034444: 39034444
9SEPN1NM_020451.2(SEPN1): c.818G> A (p.Gly273Glu)single nucleotide variantPathogenicrs121908182GRCh37Chr 1, 26135587: 26135587
10SEPN1NM_020451.2(SEPN1): c.1385G> A (p.Sec462=)single nucleotide variantPathogenicGRCh37Chr 1, 26139280: 26139282
11SEPN1NM_020451.2(SEPN1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121908184GRCh37Chr 1, 26126722: 26126722
12SEPN1NM_020451.2(SEPN1): c.1397G> A (p.Arg466Gln)single nucleotide variantPathogenicrs121908185GRCh37Chr 1, 26140381: 26140381
13SEPN1NM_020451.2(SEPN1): c.1358G> C (p.Trp453Ser)single nucleotide variantPathogenicrs121908186GRCh37Chr 1, 26139254: 26139254
14SEPN1SEPN1, 1-BP INS, 713AinsertionPathogenic
15SEPN1NM_020451.2(SEPN1): c.1384T> G (p.Sec462Gly)single nucleotide variantPathogenicrs121908187GRCh37Chr 1, 26139280: 26139280
16SEPN1NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)single nucleotide variantPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244
17SEPN1SEPN1, 92-BP DELdeletionPathogenic

Expression for genes affiliated with Rigid Spine Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rigid Spine Syndrome

Search GEO for disease gene expression data for Rigid Spine Syndrome.

Pathways for genes affiliated with Rigid Spine Syndrome

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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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 cardiomyopathy38
8.6MYH7, EMD, TTN, DMD

Compounds for genes affiliated with Rigid Spine Syndrome

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1actomyosin459.8TTN, MYH7
2agarose459.6TTN, DMD
3ryanodine45 29 6111.6MYH7, SEPN1, TTN
4polyacrylamide459.4MYH7, TTN, DMD
5bromodeoxyuridine459.3MYH7, DMD
6gold459.3DMD, TTN, GAA
7glycogen45 2410.1DMD, TTN, GAA
8arginine459.0GAA, MYH7, DMD
9creatinine458.9GAA, MYH7, TTN, DMD
10atp45 299.6FHL1, MYH7, TTN, DMD
11calcium45 51 24 1111.3MYH7, SEPN1, EMD, TTN, DMD

GO Terms for genes affiliated with Rigid Spine Syndrome

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16Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rigid Spine Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet