MCID: SCP005
MIFTS: 19

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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48OMIM, 34MalaCards
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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:48 181400

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Sources:
44NIH Rare Diseases, 48OMIM, 63UMLS, 50Orphanet, 21GeneTests, 23GTR, 27ICD10 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):

50
stark-kaeser syndrome:
Inheritance: Autosomal dominant,X-linked dominant


Aliases & Descriptions:

scapuloperoneal syndrome, neurogenic, kaeser type 44 48 63
scapuloperoneal syndrome, neurogenic type, of kaeser 44 21 23
stark-kaeser syndrome 44 50
kaeser syndrome 44 50
neurogenic scapuloperoneal syndrome 50
scapuloperoneal amyotrophy 50


External Ids:

OMIM48 181400
ICD10 via Orphanet27 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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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21GeneTests, 23GTR
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Genetic tests related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

id Genetic test Affiliating Genes
1 Neurogenic Scapuloperoneal Syndrome , Kaeser Type21 DES
2 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type23

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet