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 57 53 29 13 6 40 73
Kaeser Syndrome 57 53 59 75
Stark-Kaeser Syndrome 57 53 59
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 57 53
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 59
Neurogenic Scapuloperoneal Syndrome Kaeser Type 75
Scpnk 57

Characteristics:

Orphanet epidemiological data:

59
neurogenic scapuloperoneal syndrome, kaeser type
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 181400
Orphanet 59 ORPHA85146
ICD10 via Orphanet 34 G12.1
UMLS via Orphanet 74 C1867005
MedGen 42 C1867005
UMLS 73 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin). Related phenotypes are talipes equinovarus and scapuloperoneal weakness

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:

57
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:

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

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 29 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:

75
# 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
2 DES NM_001927.3(DES): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs57965306 GRCh38 Chromosome 2, 219421365: 219421365

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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