MCID: SCP005
MIFTS: 17

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

MalaCards integrated aliases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 53 49 28 13 69
Kaeser Syndrome 53 49 55 71
Stark-Kaeser Syndrome 53 49 55
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 53 49
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 55
Neurogenic Scapuloperoneal Syndrome Kaeser Type 71
Scpnk 53

Characteristics:

Orphanet epidemiological data:

55
neurogenic scapuloperoneal syndrome, kaeser type
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 181400
Orphanet 55 ORPHA85146
UMLS via Orphanet 70 C1867005
ICD10 via Orphanet 33 G12.1
MedGen 39 C1867005
UMLS 69 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
Neuro:
neurogenic scapuloperoneal syndrome
bilateral foot drop
late bulbar involvement

Limbs:
talipes equinovarus

Muscle:
peroneal atrophy
shoulder girdle atrophy


Clinical features from OMIM:

181400

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

31
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 HP:0001762
2 foot dorsiflexor weakness 31 HP:0009027
3 shoulder girdle muscle atrophy 31 HP:0003724
4 peroneal muscle atrophy 31 HP:0009049
5 scapuloperoneal weakness 31 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:

# Genetic test Affiliating Genes
1 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 28 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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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