MCID: SCP005
MIFTS: 25

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

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

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section


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:47 181400

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section
Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

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

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 47 11 43 62
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 43 22 24
Neurogenic Scapuloperoneal Syndrome 43 49
Scapuloperoneal Muscular Atrophy 43 49
 
Scapuloperoneal Amyotrophy 43 49
Stark-Kaeser Syndrome 43 49
Kaeser Syndrome 43 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
neurogenic scapuloperoneal syndrome:
Inheritance: Autosomal dominant,X-linked dominant


External Ids:

OMIM47 181400
Orphanet49 85146
ICD10 via Orphanet28 G12.1

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section

Diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type via text searches within MalaCards or GeneCards/GeneDecks 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

About this section

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

About this section

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

About this section

Genetic tests related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

id Genetic test Affiliating Genes
1 Neurogenic Scapuloperoneal Syndrome , Kaeser Type22 DES
2 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type24

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section

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

About this section

Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section

Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section

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:

7
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

About this section

Search GEO for disease gene expression data for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type.

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet