Details of Disease | DrugMAP

General Information of Disease (ID: DIS2BTIZ)

Disease Name	Neurogenic scapuloperoneal syndrome, Kaeser type
Synonyms	SCPNK; scapuloperoneal syndrome, neurogenic, Kaeser type; scapuloperoneal syndrome, neurogenic type, of Kaeser; stark-Kaeser syndrome; Kaeser syndrome
Disease Hierarchy	DISD9P78: Qualitative or quantitative defects of desmin DIS6XNI0: Hereditary motor neuron disease DIS2BTIZ: Neurogenic scapuloperoneal syndrome, Kaeser type
Disease Identifiers	MONDO ID MONDO_0008407 MESH ID C566695 UMLS CUI C1867005 OMIM ID 181400 MedGen ID 356670 Orphanet ID 85146 SNOMED CT ID 1208615009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DES	OTI09KBW	Supportive	Autosomal dominant	[1]
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References

1	Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17.