SCPNK
MCID: SCP005
MIFTS: 34

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (SCPNK)

Categories: Genetic diseases, Muscle 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 57 12 20 13 44 39 70
Kaeser Syndrome 57 12 20 58 72
Stark-Kaeser Syndrome 57 12 20 58
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 58 29 6
Neurogenic Scapuloperoneal Syndrome Kaeser Type 12 72 15
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 57 20
Scapuloperoneal Syndrome Type Kaeser 12
Scpnk 57

Characteristics:

Orphanet epidemiological data:

58
neurogenic scapuloperoneal syndrome, kaeser type
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111551
OMIM® 57 181400
MeSH 44 C566695
ICD10 via Orphanet 33 G12.1
UMLS via Orphanet 71 C1867005
Orphanet 58 ORPHA85146
MedGen 41 C1867005
UMLS 70 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

UniProtKB/Swiss-Prot : 72 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, also known as kaeser syndrome, is related to myopathy, myofibrillar, 9, with early respiratory failure and myopathy, myofibrillar, 1. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin). Related phenotypes are talipes equinovarus and foot dorsiflexor weakness

Disease Ontology : 12 A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has material basis in heterozygous mutation in DES on chromosome 2q35.

More information from OMIM: 181400

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 9, with early respiratory failure 30.2 MYOT LDB3
2 myopathy, myofibrillar, 1 29.5 SELENON MYOT LDB3 DES
3 myofibrillar myopathy 29.5 SELENON MYOT LDB3 DES
4 myopathy 28.5 SELENON MYOT MYL6B MATR3 LDB3 DES
5 cardiac conduction defect 10.2
6 dysphagia 10.2
7 autosomal recessive limb-girdle muscular dystrophy 10.1 MYOT DES
8 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 MYOT DES
9 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 MYOT DES
10 muscular dystrophy, limb-girdle, autosomal dominant 3 10.0 MYOT DES
11 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 MYOT DES
12 hyaline body myopathy 10.0 SELENON MYOT
13 congenital structural myopathy 9.9 SELENON MYOT
14 miyoshi muscular dystrophy 9.9 MYOT DES
15 centronuclear myopathy 9.9 SELENON DES
16 myopathy, myofibrillar, 3 9.9 MYOT LDB3
17 isolated elevated serum creatine phosphokinase levels 9.9 SELENON MYOT
18 myopathy, myofibrillar, 4 9.9 MYOT LDB3
19 bethlem myopathy 1 9.9 SELENON MYOT
20 tibial muscular dystrophy 9.9 MYOT LDB3
21 nonaka myopathy 9.9 MYOT LDB3
22 congenital fiber-type disproportion 9.8 SELENON MYOT
23 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 MYOT DES
24 muscle tissue disease 9.8 SELENON MYOT
25 central core disease of muscle 9.8 SELENON MYOT DES
26 myopathy, spheroid body 9.7 MYOT LDB3 DES
27 emery-dreifuss muscular dystrophy 9.7 MYOT LDB3 DES
28 left ventricular noncompaction 9.7 MYOT LDB3 DES
29 myopathy, myofibrillar, 2 9.7 SELENON MYOT LDB3
30 myopathy, myofibrillar, 5 9.7 SELENON MYOT LDB3
31 rigid spine muscular dystrophy 1 9.7 SELENON MYOT LDB3
32 muscular dystrophy, congenital, lmna-related 9.6 SELENON MYOT LDB3
33 restrictive cardiomyopathy 9.6 LDB3 DES
34 autosomal dominant distal myopathy 9.6 MYOT MATR3 DES
35 batten-turner congenital myopathy 9.5 SELENON MYOT LDB3 DES
36 neuromuscular disease 9.4 SELENON MYOT LDB3 DES
37 muscular dystrophy 9.0 SELENON MYOT MATR3 LDB3 DES

Graphical network of the top 20 diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:



Diseases related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Symptoms & Phenotypes for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Limbs:
talipes equinovarus

Muscle:
peroneal atrophy
shoulder girdle atrophy

Neuro:
neurogenic scapuloperoneal syndrome
bilateral foot drop
late bulbar involvement

Clinical features from OMIM®:

181400 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DES LDB3 MATR3 SELENON

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Cochrane evidence based reviews: 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 Neurogenic Scapuloperoneal Syndrome, Kaeser Type 29 DES

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

Articles related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:

(show all 12)
# Title Authors PMID Year
1
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 6 57
17439987 2007
2
Scapuloperoneal muscular atrophy. 6 57
5828910 1965
3
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. 6
15800015 2005
4
Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. 57
7487558 1995
5
[Stark-Kaeser type scapulo-peroneal amyotrophy of neurogenic origin. Study of a familial case]. 57
8343020 1993
6
The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: clinical study and genetics. 57
949863 1976
7
Spinal muscular atrophy of the scapulo-peroneal-type. 57
5494204 1970
8
Scapuloperoneal dystrophy and scapuloperoneal atrophy. 57
5717695 1968
9
A spinal muscular atrophy with scapuloperoneal distribution. 57
5636068 1968
10
The neurogenic scapulo-peroneal syndrome. 57
5696601 1968
11
[FAMILIAL SCAPULOPERONEAL MUSCULAR ATROPHY]. 6
14326018 1964
12
[Proximal spinal muscular atrophy in the adult]. 61
9044575 1996

Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DES NM_001927.4(DES):c.1049G>C (p.Arg350Pro) SNV Pathogenic 16835 rs57965306 GRCh37: 2:220286087-220286087
GRCh38: 2:219421365-219421365
2 DES-LCR , DES NM_001927.4(DES):c.-74C>T SNV Uncertain significance 334449 rs886055653 GRCh37: 2:220283111-220283111
GRCh38: 2:219418389-219418389
3 DES NM_001927.4(DES):c.-6G>A SNV Uncertain significance 334450 rs774967446 GRCh37: 2:220283179-220283179
GRCh38: 2:219418457-219418457
4 DES NM_001927.4(DES):c.*489G>A SNV Uncertain significance 334454 rs886055655 GRCh37: 2:220291201-220291201
GRCh38: 2:219426479-219426479
5 DES NM_001927.4(DES):c.*559G>A SNV Uncertain significance 334455 rs547498920 GRCh37: 2:220291271-220291271
GRCh38: 2:219426549-219426549
6 DES NM_001927.4(DES):c.247T>C (p.Tyr83His) SNV Uncertain significance 895360 GRCh37: 2:220283431-220283431
GRCh38: 2:219418709-219418709
7 DES NM_001927.4(DES):c.*114G>T SNV Uncertain significance 895572 GRCh37: 2:220290826-220290826
GRCh38: 2:219426104-219426104
8 DES NM_001927.4(DES):c.728A>G (p.His243Arg) SNV Uncertain significance 451940 rs1410266369 GRCh37: 2:220285061-220285061
GRCh38: 2:219420339-219420339
9 DES NM_001927.4(DES):c.735+11G>A SNV Uncertain significance 896829 GRCh37: 2:220285079-220285079
GRCh38: 2:219420357-219420357
10 DES NM_001927.4(DES):c.*280G>A SNV Uncertain significance 896976 GRCh37: 2:220290992-220290992
GRCh38: 2:219426270-219426270
11 DES NM_001927.4(DES):c.*295G>A SNV Uncertain significance 896977 GRCh37: 2:220291007-220291007
GRCh38: 2:219426285-219426285
12 DES NM_001927.4(DES):c.*695C>T SNV Uncertain significance 897046 GRCh37: 2:220291407-220291407
GRCh38: 2:219426685-219426685
13 DES NM_001927.4(DES):c.*428G>C SNV Uncertain significance 334452 rs886055654 GRCh37: 2:220291140-220291140
GRCh38: 2:219426418-219426418
14 DES NM_001927.4(DES):c.193G>A (p.Gly65Ser) SNV Uncertain significance 44256 rs397516692 GRCh37: 2:220283377-220283377
GRCh38: 2:219418655-219418655
15 DES NM_001927.4(DES):c.216C>A (p.Ser72Arg) SNV Uncertain significance 193219 rs375719734 GRCh37: 2:220283400-220283400
GRCh38: 2:219418678-219418678
16 DES-LCR , DES NM_001927.4(DES):c.-54C>T SNV Uncertain significance 895278 GRCh37: 2:220283131-220283131
GRCh38: 2:219418409-219418409
17 DES NM_001927.4(DES):c.216C>A (p.Ser72Arg) SNV Uncertain significance 193219 rs375719734 GRCh37: 2:220283400-220283400
GRCh38: 2:219418678-219418678
18 DES NM_001927.4(DES):c.1375G>A (p.Val459Ile) SNV Likely benign 44252 rs73991549 GRCh37: 2:220290674-220290674
GRCh38: 2:219425952-219425952
19 DES NM_001927.4(DES):c.638C>T (p.Ala213Val) SNV Likely benign 44265 rs41272699 GRCh37: 2:220284876-220284876
GRCh38: 2:219420154-219420154
20 DES NM_001927.4(DES):c.642C>T (p.Asp214=) SNV Likely benign 44266 rs370239228 GRCh37: 2:220284975-220284975
GRCh38: 2:219420253-219420253
21 DES NM_001927.4(DES):c.*51C>A SNV Likely benign 898564 GRCh37: 2:220290763-220290763
GRCh38: 2:219426041-219426041
22 DES-LCR , DES NM_001927.4(DES):c.-44G>A SNV Likely benign 201698 rs184826121 GRCh37: 2:220283141-220283141
GRCh38: 2:219418419-219418419
23 DES NM_001927.4(DES):c.665G>A (p.Arg222His) SNV Likely benign 178016 rs367961979 GRCh37: 2:220284998-220284998
GRCh38: 2:219420276-219420276
24 DES NM_001927.4(DES):c.372G>A (p.Glu124=) SNV Benign 44258 rs34365369 GRCh37: 2:220283556-220283556
GRCh38: 2:219418834-219418834
25 DES NM_001927.4(DES):c.*198G>A SNV Benign 334451 rs560055588 GRCh37: 2:220290910-220290910
GRCh38: 2:219426188-219426188
26 DES NM_001927.4(DES):c.*468G>T SNV Benign 334453 rs73085265 GRCh37: 2:220291180-220291180
GRCh38: 2:219426458-219426458
27 DES NM_001927.4(DES):c.1104G>A (p.Ala368=) SNV Benign 44245 rs1058284 GRCh37: 2:220286142-220286142
GRCh38: 2:219421420-219421420
28 DES NM_001927.4(DES):c.578+11G>A SNV Benign 44263 rs111548596 GRCh37: 2:220283773-220283773
GRCh38: 2:219419051-219419051
29 DES NM_001927.4(DES):c.792C>T (p.Asp264=) SNV Benign 44271 rs150370918 GRCh37: 2:220285273-220285273
GRCh38: 2:219420551-219420551
30 DES NM_001927.4(DES):c.75A>G (p.Pro25=) SNV Benign 36002 rs1318299 GRCh37: 2:220283259-220283259
GRCh38: 2:219418537-219418537
31 DES NM_001927.4(DES):c.93T>C (p.Ser31=) SNV Benign 36003 rs2017800 GRCh37: 2:220283277-220283277
GRCh38: 2:219418555-219418555
32 DES NM_001927.4(DES):c.669T>C (p.Ile223=) SNV Benign 36001 rs75882680 GRCh37: 2:220285002-220285002
GRCh38: 2:219420280-219420280
33 DES NM_001927.4(DES):c.1014G>C (p.Leu338=) SNV Benign 44242 rs12920 GRCh37: 2:220285666-220285666
GRCh38: 2:219420944-219420944
34 DES NM_001927.4(DES):c.924C>T (p.Asn308=) SNV Benign 283467 rs578191306 GRCh37: 2:220285576-220285576
GRCh38: 2:219420854-219420854
35 DES NM_001927.4(DES):c.*662G>A SNV Benign 334457 rs116635264 GRCh37: 2:220291374-220291374
GRCh38: 2:219426652-219426652
36 DES NM_001927.4(DES):c.1026C>T (p.Asn342=) SNV Benign 44243 rs61731508 GRCh37: 2:220286064-220286064
GRCh38: 2:219421342-219421342
37 DES NM_001927.4(DES):c.408C>T (p.Leu136=) SNV Benign 44262 rs111828114 GRCh37: 2:220283592-220283592
GRCh38: 2:219418870-219418870
38 DES NM_001927.4(DES):c.828C>T (p.Asp276=) SNV Benign 44272 rs1058261 GRCh37: 2:220285309-220285309
GRCh38: 2:219420587-219420587
39 DES NM_001927.4(DES):c.635G>A (p.Arg212Gln) SNV Benign 178015 rs144261171 GRCh37: 2:220284873-220284873
GRCh38: 2:219420151-219420151
40 DES NM_001927.4(DES):c.18G>A (p.Ser6=) SNV Benign 44255 rs199972656 GRCh37: 2:220283202-220283202
GRCh38: 2:219418480-219418480
41 DES NM_001927.4(DES):c.170C>T (p.Ser57Leu) SNV Benign 44254 rs372825868 GRCh37: 2:220283354-220283354
GRCh38: 2:219418632-219418632
42 DES NM_001927.4(DES):c.193G>A (p.Gly65Ser) SNV Benign 44256 rs397516692 GRCh37: 2:220283377-220283377
GRCh38: 2:219418655-219418655
43 DES NM_001927.4(DES):c.1353C>G (p.Ile451Met) SNV Benign 16824 rs121913002 GRCh37: 2:220290449-220290449
GRCh38: 2:219425727-219425727
44 DES NM_001927.4(DES):c.*308C>A SNV Benign 897464 GRCh37: 2:220291020-220291020
GRCh38: 2:219426298-219426298
45 DES NM_001927.4(DES):c.*112C>G SNV Benign 898565 GRCh37: 2:220290824-220290824
GRCh38: 2:219426102-219426102
46 DES NM_001927.4(DES):c.*475T>G SNV Benign 898621 GRCh37: 2:220291187-220291187
GRCh38: 2:219426465-219426465
47 DES NM_001927.4(DES):c.934G>A (p.Asp312Asn) SNV Benign 44274 rs34337334 GRCh37: 2:220285586-220285586
GRCh38: 2:219420864-219420864
48 DES NM_001927.4(DES):c.893C>T (p.Ser298Leu) SNV Benign 66423 rs62636491 GRCh37: 2:220285374-220285374
GRCh38: 2:219420652-219420652

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

72
# Symbol AA change Variation ID SNP ID
1 DES p.Arg350Pro VAR_042454 rs57965306

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

Cellular components related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 MYOT DES
2 Z disc GO:0030018 8.8 MYOT LDB3 DES

Biological processes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 8.96 MYL6B DES
2 muscle contraction GO:0006936 8.8 MYOT MYL6B DES

Molecular functions related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.96 LDB3 DES
2 structural constituent of muscle GO:0008307 8.62 MYOT MYL6B

Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....