MCID: SCP005
MIFTS: 21

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

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

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, Aliases & Descriptions:

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 45 10 41 60
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 41 20 22
Neurogenic Scapuloperoneal Syndrome 41 47
Scapuloperoneal Muscular Atrophy 41 47
 
Scapuloperoneal Amyotrophy 41 47
Stark-Kaeser Syndrome 41 47
Kaeser Syndrome 41 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
neurogenic scapuloperoneal syndrome:
Inheritance: Autosomal dominant,X-linked dominant


External Ids:

OMIM45 181400
Orphanet47 85146
ICD10 via Orphanet26 G12.1

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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MalaCards based summary: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, also known as scapuloperoneal syndrome, neurogenic type, of kaeser, is related to spinal muscular atrophy, distal, autosomal recessive, 4 and scapuloperoneal spinal muscular atrophy, 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:45 181400

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy, distal, autosomal recessive, 410.2
2scapuloperoneal spinal muscular atrophy10.2
3myopathy, myosin storage10.2

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

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

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

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet