Details of Disease

General Information of Disease (ID: DISBBR1M)

Disease Name Striatonigral degeneration, childhood-onset
Synonyms striatonigral Degeneration, childhood-onset; striatonigral degeneration, childhood-onset; SNDC; SNDC; Lenk-Ploski syndrome; childhood-onset basal ganglia degeneration syndrome
Disease Hierarchy
DISEIJV9: Inherited dystonia
DIS0NDAM: Striatonigral degeneration
DISBBR1M: Striatonigral degeneration, childhood-onset
Disease Identifiers
MONDO ID
MONDO_0014889
UMLS CUI
C4310743
OMIM ID
617054
MedGen ID
934710
Orphanet ID
497906
SNOMED CT ID
1172584005

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
VAC14 OTRUU20W Strong Autosomal recessive [1]
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References

1 Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17518-23. doi: 10.1073/pnas.0702275104. Epub 2007 Oct 23.