MDRS1
MCID: RGD001
MIFTS: 26

Rigid Spine Syndrome (MDRS1) malady

Muscle category

Summaries for Rigid Spine Syndrome

Sources:
33MalaCards
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MalaCards: Rigid Spine Syndrome, also known as minicore myopathy with external ophthalmoplegia, is related to emery-dreifuss muscular dystrophy and myopathy congenital. An important gene associated with Rigid Spine Syndrome is DMD (dystrophin), and among its related pathways is Hypertrophic cardiomyopathy (HCM). The compound gold have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and cardiovascular system.

Aliases & Classifications for Rigid Spine Syndrome

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

rigid spine syndrome 43 45
minicore myopathy with external ophthalmoplegia 61
desmin-related myopathies with mallory bodies 43
eichsfeld type congenital muscular dystrophy 61
multiminicore disease, severe classic form 43
multicore myopathy, severe classic form 43
minicore myopathy, severe classic form 43
mdrs1 43


Related Diseases for Rigid Spine Syndrome

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy30.1EMD
2myopathy congenital30.1SEPN1, GAA, LOC619409, DMD
3minicore myopathy with external ophthalmoplegia10.8
4n syndrome10.6
5multiminicore disease10.4
6minicore myopathy, antenatal onset, with arthrogryposis10.4
7sepn1-related myopathy10.4
8nemaline myopathy10.3
9spine rigid cardiomyopathy10.3
10adult syndrome10.1
11dysferlinopathy10.1
12bod syndrome10.1
13cytoplasmic body myopathy10.1
14emerinopathy10.1
15muscular dystrophy, rigid spine, 110.1
16myopathy, myofibrillar, 110.1
17myositis10.0DMD
18hypertrophic cardiomyopathy10.0GAA
19danon disease10.0GAA
20malignant hyperthermia10.0SEPN1
21facioscapulohumeral muscular dystrophy10.0GAA, DMD
22glycogen storage disease ii10.0GAA, DMD
23respiratory failure10.0GAA, LOC619409
24distal muscular dystrophy10.0GAA, DMD
25spinal muscular atrophy10.0DMD, GAA
26protein s deficiency10.0DMD, GAA
27duchenne muscular dystrophy10.0GAA, DMD
28central core myopathy10.0SEPN1, GAA
29glycogen storage disease10.0DMD, GAA
30polymyositis10.0DMD, GAA
31limb-girdle muscular dystrophy10.0DMD, EMD
32myotonic dystrophy10.0GAA, DMD
33dilated cardiomyopathy10.0DMD, EMD
34hypertrophy of breast10.0DMD, FHL1, GAA
35dermatomyositis10.0GAA, DMD
36neuromuscular disease10.0DMD, EMD, GAA
37mental retardation10.0DMD, GAA, LOC619409
38noonan syndrome10.0GAA, DMD, EMD
39congenital heart defect10.0GAA, EMD, DMD
40neuropathy10.0DMD, EMD, SEPN1
41muscular dystrophy10.0SEPN1, EMD, GAA, DMD, LOC619409
42myopathy10.0FHL1, GAA, DMD, SEPN1, EMD

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



Diseases related to rigid spine syndrome

Clinical Features for Rigid Spine Syndrome

Drugs & Therapeutics for Rigid Spine Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Rigid Spine Syndrome

Drug clinical trials:

Search ClinicalTrials for Rigid Spine Syndrome

Search NIH Clinical Center for Rigid Spine Syndrome

Search CenterWatch for Rigid Spine Syndrome

Genetic Tests for Rigid Spine Syndrome

Anatomical Context for Rigid Spine Syndrome

Animal Models for Rigid Spine Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Rigid Spine Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2SEPN1, EMD, DMD, GAA
2MP:00053858.2EMD, DMD, GAA, FHL1

Publications for Rigid Spine Syndrome

Sources:
51PubMed
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Articles related to Rigid Spine Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Rigid spine syndrome revealing late-onset Pompe disease. (20005713)
2010
2
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). (18952429)
2008
3
Rigid spine syndrome (vacuolar variant). A quantitative electromyograhic study. (17375883)
2007
4
Rigid spine syndrome: vacuolar variant multimodal evoked potentials. (18051625)
2007
5
Anesthesia for Cesarean delivery in a parturient with rigid spine syndrome. (16803927)
2006
6
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. (16531044)
2006
7
Scoliosis correction in an adolescent with a rigid spine syndrome: case report. (16227881)
2005
8
Dysferlinopathy associated with rigid spine syndrome. (15641596)
2004
9
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). (12207930)
2002
10
Rigid spine syndrome with chronic respiratory failure. (12645194)
2002
11
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (11571700)
2001
12
Response to botulinum toxin in a case of rigid spine syndrome. (11601420)
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 with fiber type disproportion. (10204795)
1999
17
Presence of emerinopathy in cases of rigid spine syndrome. (9829281)
1998
18
Rigid spine syndrome. Case report. (10029887)
1998
19
The rigid spine syndrome due to acid maltase deficiency. (9052818)
1997
20
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. (7580249)
1995
21
Respiratory manifestations of rigid spine syndrome. (8049843)
1994
22
Two siblings with nemaline myopathy presenting with rigid spine syndrome. (7919974)
1994
23
The rigid spine syndrome: a vacuolar variant. (8515761)
1993
24
Rigid spine syndrome presenting with respiratory failure--report of one case. (8368070)
1993
25
Rigid spine syndrome and nocturnal alveolar hypoventilation. (8312662)
1993
26
Rigid spine syndrome with selective respiratory muscle weakness. (1579718)
1992
27
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. (2010758)
1991
28
Rigid spine syndrome with respiratory failure. (2246660)
1990
29
Rigid spine syndrome associated with cardiomyopathy: clinical and nosological considerations. (2089184)
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
Rigid spine syndrome. Report of 4 cases. (2517084)
1989
33
Rigid spine syndrome and progressive external ophthalmoplegia in a 15-year-old girl. (2599274)
1989
34
Surgical correction of cervical hyperextension in rigid spine syndrome. (3374763)
1988
35
Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome. (3688652)
1987
36
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. (3802686)
1986
37
The rigid spine syndrome. (3025374)
1986
38
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. (3746364)
1986
39
Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients. (3998773)
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
The rigid spine syndrome. (552213)
1979
49
Fibre type disproportion in the rigid spine syndrome. (579444)
1977
50
Rigid spine syndrome: a muscle syndrome in search of a name. (4697975)
1973

Genetic Variations for Rigid Spine Syndrome

Expression for genes affiliated with Rigid Spine Syndrome

Sources:
1BioGPS, 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

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4EMD, DMD

Compounds for genes affiliated with Rigid Spine Syndrome

Sources:
45Novoseek
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Compounds related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gold459.6DMD, GAA

GO Terms for genes affiliated with Rigid Spine Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:0600489.6DMD, GAA
2muscle cell cellular homeostasisGO:0467169.3DMD, GAA
3muscle organ developmentGO:0075178.1EMD, DMD, GAA, FHL1

Products for genes affiliated with Rigid Spine Syndrome

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Sources for Rigid Spine Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet