MDRS1
MCID: RGD001
MIFTS: 21

Rigid Spine Syndrome (MDRS1) malady

Muscle diseases category

Summaries for Rigid Spine Syndrome

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32MalaCards
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MalaCards: Rigid Spine Syndrome, also known as minicore myopathy with external ophthalmoplegia, is related to muscular dystrophy and myopathy. 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

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Sources:
42NIH Rare Diseases, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

rigid spine syndrome 42 44
minicore myopathy with external ophthalmoplegia 60
desmin-related myopathies with mallory bodies 42
eichsfeld type congenital muscular dystrophy 60
multiminicore disease, severe classic form 42
multicore myopathy, severe classic form 42
minicore myopathy, severe classic form 42
mdrs1 42


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 42)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.6SEPN1, EMD, GAA, DMD, LOC619409
2myopathy30.6FHL1, GAA, DMD, SEPN1, EMD
3respiratory failure30.4GAA, LOC619409
4emery-dreifuss muscular dystrophy30.1EMD
5minicore myopathy with external ophthalmoplegia10.8
6multiminicore disease10.4
7minicore myopathy, antenatal onset, with arthrogryposis10.4
8congenital muscular dystrophy10.4
9sepn1-related myopathy10.4
10nemaline myopathy10.2
11cerebritis10.1
12adult syndrome10.1
13cervicitis10.1
14ophthalmoplegia10.1
15dysferlinopathy10.1
16image syndrome10.1
17muscular dystrophy, rigid spine, 110.1
18myopathy, myofibrillar, 110.1
19myositis10.0DMD
20hypertrophic cardiomyopathy10.0GAA
21danon disease10.0GAA
22malignant hyperthermia10.0SEPN1
23facioscapulohumeral muscular dystrophy10.0GAA, DMD
24glycogen storage disease ii10.0GAA, DMD
25distal muscular dystrophy10.0GAA, DMD
26spinal muscular atrophy10.0DMD, GAA
27protein s deficiency10.0DMD, GAA
28duchenne muscular dystrophy10.0GAA, DMD
29central core myopathy10.0SEPN1, GAA
30glycogen storage disease10.0DMD, GAA
31polymyositis10.0DMD, GAA
32limb-girdle muscular dystrophy10.0DMD, EMD
33myotonic dystrophy10.0GAA, DMD
34dilated cardiomyopathy10.0DMD, EMD
35hypertrophy of breast10.0DMD, FHL1, GAA
36dermatomyositis10.0GAA, DMD
37neuromuscular disease10.0DMD, EMD, GAA
38mental retardation10.0DMD, GAA, LOC619409
39noonan syndrome10.0GAA, DMD, EMD
40congenital heart defect10.0GAA, EMD, DMD
41myopathy congenital10.0SEPN1, GAA, LOC619409, DMD
42neuropathy10.0DMD, EMD, SEPN1

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



Diseases related to rigid spine syndrome

Clinical Features for Rigid Spine Syndrome

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Drugs & Therapeutics for Rigid Spine Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Rigid Spine Syndrome

Search CenterWatch 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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36MGI
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MGI Mouse Phenotypes related to Rigid Spine Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2SEPN1, EMD, DMD, GAA
2MP:00053858.2EMD, DMD, GAA, FHL1

Publications for Rigid Spine Syndrome

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Genetic Variations for Rigid Spine Syndrome

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Expression for genes affiliated with Rigid Spine Syndrome

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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

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Sources:
29KEGG, 37NCBI 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

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Sources:
44Novoseek
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Compounds related to Rigid Spine Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gold449.6DMD, GAA

GO Terms for genes affiliated with Rigid Spine Syndrome

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Sources:
16Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet