MCID: SCP005
MIFTS: 19

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Neuronal diseases category

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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46OMIM, 32MalaCards
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MalaCards: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, is also known as scapuloperoneal syndrome, neurogenic type, of kaeser An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (desmin).

Description from OMIM:46 181400

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Sources:
42NIH Rare Diseases, 46OMIM, 60UMLS, 48Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
stark-kaeser syndrome:
Inheritance: Autosomal dominant,X-linked dominant


Aliases & Descriptions:

scapuloperoneal syndrome, neurogenic, kaeser type 42 46 60
scapuloperoneal syndrome, neurogenic type, of kaeser 42 20 22
stark-kaeser syndrome 42 48
kaeser syndrome 42 48
neurogenic scapuloperoneal syndrome 48
scapuloperoneal amyotrophy 48


External Ids:

OMIM46 181400
ICD10 via Orphanet26 G12.1

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Clinical Features for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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46OMIM
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Clinical features from OMIM:

181400

Clinical synopsis from OMIM:

181400

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Genetic Tests for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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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

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

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Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Genetic Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

62
id Symbol AA change Variation ID SNP ID
1DESp.Arg350ProVAR_042454rs57965306

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

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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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