Details of Disease

General Information of Disease (ID: DISTMX8T)

Disease Name Familial infantile bilateral striatal necrosis
Synonyms
bilateral striatal Necrosis, infantile; SNDI; infantile bilateral striatal necrosis; FBSN; striatal degeneration, familial; familial bilateral striatal necrosis; striatonigral degeneration, infantile; familial infantile striatonigral degeneration; familial IBSN; familial infantile striatonigral necrosis; hereditary infantile bilateral striatal necrosis
Definition
The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS0NDAM: Striatonigral degeneration
DIST0SXY: Infantile bilateral striatal necrosis
DISTMX8T: Familial infantile bilateral striatal necrosis
Disease Identifiers
MONDO ID
MONDO_0010080
UMLS CUI
C4087174
MedGen ID
1672478
Orphanet ID
225154
SNOMED CT ID
1208478005

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
ADAR OTQNOHR8 Supportive Autosomal dominant [1]
NUP62 OTMN63DH Strong Autosomal recessive [2]
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References

1 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.
2 Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902.