MCID: SCP005
MIFTS: 19

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 51 47 12 67
Kaeser Syndrome 47 24 53 69
Stark-Kaeser Syndrome 47 24 53
Neurogenic Scapuloperoneal Syndrome Kaeser Type 69 26
 
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 47
Neurogenic Scapuloperoneal Syndrome , Kaeser Type 24
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 53

Characteristics:

Orphanet epidemiological data:

53
kaeser syndrome:
Inheritance: Autosomal dominant

HPO:

63
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 181400
Orphanet53 ORPHA85146
ICD10 via Orphanet30 G12.1
MedGen36 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

 63
id Description HPO Frequency HPO Source Accession
1 talipes equinovarus63 HP:0001762
2 scapuloperoneal weakness63 HP:0003704
3 shoulder girdle muscle atrophy63 HP:0003724
4 foot dorsiflexor weakness63 HP:0009027
5 peroneal muscle atrophy63 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 Type26
2 Neurogenic Scapuloperoneal Syndrome , Kaeser Type24 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:

69
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)SNVPathogenicrs57965306GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet