SCPNK
MCID: SCP005
MIFTS: 19

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (SCPNK)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 58 54 30 13 6 41 74
Kaeser Syndrome 58 54 60 76
Stark-Kaeser Syndrome 58 54 60
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 58 54
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 60
Neurogenic Scapuloperoneal Syndrome Kaeser Type 76
Scpnk 58

Characteristics:

Orphanet epidemiological data:

60
neurogenic scapuloperoneal syndrome, kaeser type
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 181400
ICD10 via Orphanet 35 G12.1
UMLS via Orphanet 75 C1867005
Orphanet 60 ORPHA85146
MedGen 43 C1867005
UMLS 74 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

UniProtKB/Swiss-Prot : 76 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 foot dorsiflexor weakness

Description from OMIM: 181400

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Symptoms & Phenotypes for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

33
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 33 HP:0001762
2 foot dorsiflexor weakness 33 HP:0009027
3 peroneal muscle atrophy 33 HP:0009049
4 shoulder girdle muscle atrophy 33 HP:0003724
5 scapuloperoneal weakness 33 HP:0003704

Symptoms via clinical synopsis from OMIM:

58
Limbs:
talipes equinovarus

Muscle:
peroneal atrophy
shoulder girdle atrophy

Neuro:
neurogenic scapuloperoneal syndrome
bilateral foot drop
late bulbar involvement

Clinical features from OMIM:

181400

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 30 DES

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Articles related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

# Title Authors Year
1
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. ( 17439987 )
2007
2
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. ( 15800015 )
2005
3
Scapuloperoneal muscular atrophy. ( 5828910 )
1965
4
[FAMILIAL SCAPULOPERONEAL MUSCULAR ATROPHY]. ( 14326018 )
1964

Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

76
# 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
3 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh37 Chromosome 2, 220283377: 220283377
4 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh38 Chromosome 2, 219418655: 219418655
5 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh37 Chromosome 2, 220283400: 220283400
6 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh38 Chromosome 2, 219418678: 219418678

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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