Details of Disease

General Information of Disease (ID: DIST0SXY)

Disease Name Infantile bilateral striatal necrosis
Synonyms striatal degeneration familial; SNDI; striatonigral degeneration infantile; infantile striatonigral degeneration; infantile bilateral striatal necrosis; infantile striatonigral necrosis; IBSN
Definition
Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.
Disease Hierarchy
DISM20FF: Neurodegenerative disease
DIST0SXY: Infantile bilateral striatal necrosis
Disease Identifiers
MONDO ID
MONDO_0015518
MESH ID
C537500
UMLS CUI
C0795996
OMIM ID
271930
MedGen ID
167090
Orphanet ID
1576
SNOMED CT ID
718174008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NUP62 OTMN63DH Limited Biomarker [1]
ADAR OTQNOHR8 Strong GermlineCausalMutation [2]
------------------------------------------------------------------------------------

References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet. 2014 Feb;51(2):76-82. doi: 10.1136/jmedgenet-2013-102038. Epub 2013 Nov 21.