MCID: SCP005
MIFTS: 19

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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47OMIM, 33MalaCards
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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:47 181400

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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43NIH Rare Diseases, 47OMIM, 62UMLS, 49Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

scapuloperoneal syndrome, neurogenic, kaeser type 43 47 62
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:

OMIM47 181400
ICD10 via Orphanet26 G12.1

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Symptoms for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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47OMIM
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Symptoms by clinical synopsis from OMIM:

181400

Clinical features from OMIM:

181400

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

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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Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

64
id Symbol AA change Variation ID SNP ID
1DESp.Arg350ProVAR_042454rs57965306

Clinvar genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1049G> C (p.Arg350Pro)single nucleotide variantPathogenicrs57965306GRCh37Chr 2, 220286087: 220286087

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

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2BioGPS, 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

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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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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