MCID: SCP005
MIFTS: 23

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Neuronal category

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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47OMIM, 33MalaCards
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MalaCards: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, also known as scapuloperoneal syndrome, neurogenic type, of kaeser, is related to hypertrophic cardiomyopathy and myofibrillar myopathy. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (desmin), and among its related pathways is Hypertrophic cardiomyopathy (HCM). The compounds polyacrylamide and ryanodine have been mentioned in the context of this disorder.

Description from OMIM:47 181400,181405,181430,300695

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
stark-kaeser syndrome:
Inheritance: Autosomal dominant,X-linked dominant


Aliases & Descriptions:

scapuloperoneal syndrome, neurogenic, kaeser type 43 47 61
scapuloperoneal syndrome, neurogenic type, of kaeser 43 20 22
stark-kaeser syndrome 43 49
kaeser syndrome 43 49
neurogenic scapuloperoneal syndrome 49
scapuloperoneal amyotrophy 49


External Ids:

ICD10 via Orphanet26 G12.1

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy10.0MYH7
2myofibrillar myopathy10.0DES
3familial restrictive cardiomyopathy10.0DES, MYH7
4distal muscular dystrophy10.0DES, MYH7
5myopathy congenital10.0MYH7, DES
6hypertrophy of breast10.0MYH7, FHL1
7noonan syndrome10.0MYH7, DES
8myopathy10.0FHL1, DES, MYH7

Graphical network of diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:



Diseases related to scapuloperoneal syndrome, neurogenic, kaeser type

Clinical Features for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
47OMIM
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Clinical features from OMIM:

181400,181405,181430,300695

Clinical synopsis from OMIM:

181400

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Search NIH Clinical Center for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Search CenterWatch for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Genetic Tests for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
20GeneTests, 22GTR
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Genetic tests related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

id Genetic test Affiliating Genes
1 Neurogenic Scapuloperoneal Syndrome , Kaeser Type20 DES
2 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type22

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Animal Models for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Genetic Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

63
id Symbol AA change Variation SNP ID
1DESp.Arg350ProVAR_042454rs57965306

Expression for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Search GEO for disease gene expression data for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type.

Pathways for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3MYH7, DES

Compounds for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polyacrylamide459.3MYH7, DES
2ryanodine45 29 6011.2MYH7, DES
3bromodeoxyuridine459.0MYH7, DES

GO Terms for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources:
16Gene Ontology
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Cellular components related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.0MYH7, DES
2focal adhesionGO:0059259.0MYH7, TRPV4

Biological processes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.3MYH7, DES
2muscle filament slidingGO:0300499.0MYH7, DES

Molecular functions related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037799.0MYH7, TRPV4
2calmodulin bindingGO:0055168.7MYH7, TRPV4

Products for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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