MCID: SCP005
MIFTS: 20

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 50 46 12 66
Kaeser Syndrome 46 23 52 68
Stark-Kaeser Syndrome 46 23 52
Neurogenic Scapuloperoneal Syndrome Kaeser Type 68 25
 
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 46
Neurogenic Scapuloperoneal Syndrome , Kaeser Type 23
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 52

Characteristics:

Orphanet epidemiological data:

52
kaeser syndrome:
Inheritance: Autosomal dominant

HPO:

62
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 181400
Orphanet52 ORPHA85146
ICD10 via Orphanet29 G12.1
MedGen35 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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UniProtKB/Swiss-Prot:68 Neurogenic scapuloperoneal syndrome Kaeser type: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin.

MalaCards based summary: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type, is also known as kaeser syndrome, and has symptoms including talipes equinovarus, scapuloperoneal weakness and shoulder girdle muscle atrophy. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin).

Description from OMIM:50 181400

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:

id Description Frequency HPO Source Accession
1 talipes equinovarus HP:0001762
2 scapuloperoneal weakness HP:0003704
3 shoulder girdle muscle atrophy HP:0003724
4 foot dorsiflexor weakness HP:0009027
5 peroneal muscle atrophy HP:0009049

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Interventional clinical trials:

Search ClinicalTrials, 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 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type25
2 Neurogenic Scapuloperoneal Syndrome , Kaeser Type23 DES

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:

68
id Symbol AA change Variation ID SNP ID
1DESp.Arg350ProVAR_042454rs57965306

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

5
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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GO Terms for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet