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

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

Name: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 52 48 12 68
Kaeser Syndrome 48 24 54 70
Stark-Kaeser Syndrome 48 24 54
Neurogenic Scapuloperoneal Syndrome Kaeser Type 70 27
 
Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser 48
Neurogenic Scapuloperoneal Syndrome , Kaeser Type 24
Neurogenic Scapuloperoneal Syndrome, Kaeser Type 54

Characteristics:

Orphanet epidemiological data:

54
kaeser syndrome:
Inheritance: Autosomal dominant

HPO:

64
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 181400
Orphanet54 ORPHA85146
ICD10 via Orphanet31 G12.1
MedGen37 C1867005

Summaries for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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UniProtKB/Swiss-Prot:70 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, scapuloperoneal weakness and shoulder girdle muscle atrophy. An important gene associated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type is DES (Desmin).

Description from OMIM:52 181400

Related Diseases for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Symptoms & Phenotypes for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Symptoms by clinical synopsis from OMIM:

181400

Clinical features from OMIM:

181400

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

 64
id Description HPO Frequency HPO Source Accession
1 talipes equinovarus64 HP:0001762
2 scapuloperoneal weakness64 HP:0003704
3 shoulder girdle muscle atrophy64 HP:0003724
4 foot dorsiflexor weakness64 HP:0009027
5 peroneal muscle atrophy64 HP:0009049

Drugs & Therapeutics for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Interventional clinical trials:

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

Genetic Tests for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

id Genetic test Affiliating Genes
1 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type27
2 Neurogenic Scapuloperoneal Syndrome , Kaeser Type24 DES

Anatomical Context for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Publications for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

70
id Symbol AA change Variation ID SNP ID
1DESp.Arg350ProVAR_042454rs57965306

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_ 001927.3(DES): c.1049G> C (p.Arg350Pro)SNVPathogenicrs57965306GRCh37Chr 2, 220286087: 220286087

Expression for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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

Pathways for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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GO Terms for genes affiliated with Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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Sources for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet