Scapuloperoneal Syndrome, Neurogenic, Kaeser Type malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases
Aliases & Descriptions for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant
scapuloperoneal syndrome, neurogenic, kaeser type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:68 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:50 181400
HPO human phenotypes related to Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:
UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:68
Clinvar genetic disease variations for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:5
Search GEO for disease gene expression data for Scapuloperoneal Syndrome, Neurogenic, Kaeser Type.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet