KAESER SYNDROME
MCID: SCP005
MIFTS: 20

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (KAESER SYNDROME) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 54 50 13 69
Kaeser Syndrome 50 24 56 66
Stark-Kaeser Syndrome 50 24 56
Neurogenic Scapuloperoneal Syndrome Kaeser Type 66 29
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 50
Neurogenic Scapuloperoneal Syndrome , Kaeser Type 24
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 56

Characteristics:

Orphanet epidemiological data:

56
neurogenic scapuloperoneal syndrome, kaeser type
Inheritance: Autosomal dominant;

HPO:

32
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 181400
Orphanet 56 ORPHA85146
ICD10 via Orphanet 34 G12.1
MedGen 40 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

UniProtKB/Swiss-Prot : 66 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, foot dorsiflexor weakness and shoulder girdle muscle atrophy. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin).

Description from OMIM: 181400

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Symptoms & Phenotypes for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Symptoms by clinical synopsis from OMIM:

181400

Clinical features from OMIM:

181400

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

32
id Description HPO Frequency HPO Source Accession
1 talipes equinovarus 32 HP:0001762
2 foot dorsiflexor weakness 32 HP:0009027
3 shoulder girdle muscle atrophy 32 HP:0003724
4 peroneal muscle atrophy 32 HP:0009049
5 scapuloperoneal weakness 32 HP:0003704

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Genetic Tests for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

id Genetic test Affiliating Genes
1 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 29
2 Neurogenic Scapuloperoneal Syndrome , Kaeser Type 24 DES

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

66
id Symbol AA change Variation ID SNP ID
1 DES p.Arg350Pro VAR_042454 rs57965306

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh37 Chromosome 2, 220286087: 220286087

Expression for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Pathways for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

GO Terms for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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