MCID: SCP005
MIFTS: 21

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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MalaCards based summary: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, is also known as scapuloperoneal syndrome, neurogenic type, of kaeser, and has symptoms including autosomal dominant inheritance, talipes equinovarus and scapuloperoneal weakness. 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, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
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Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, Aliases & Descriptions:

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 42 46 61
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 42 21 23
Stark-Kaeser Syndrome 42 48
Kaeser Syndrome 42 48
 
Neurogenic Scapuloperoneal Syndrome 48
Scapuloperoneal Muscular Atrophy 48
Scapuloperoneal Amyotrophy 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 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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Symptoms by clinical synopsis from OMIM:

181400

Clinical features from OMIM:

181400

HPO human phenotypes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 talipes equinovarus HP:0001762
3 scapuloperoneal weakness HP:0003704
4 shoulder girdle muscle atrophy HP:0003724
5 foot dorsiflexor weakness HP:0009027
6 peroneal muscle atrophy HP:0009049

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

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

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

7
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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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
  • Proteins
  • Kits and Assays

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet