Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Infantile bilateral striatal necrosis
Synonyms

Infantile striatonigral degeneration

Infantile striatonigral necrosis

IBSN
Definitions

Infantile bilateral striatal necrosis (IBSN) comprises 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 (see these terms).
ID

http://www.orpha.net/ORDO/Orphanet_1576
alternative_term

Infantile striatonigral degeneration

Infantile striatonigral necrosis

IBSN
definition

Infantile bilateral striatal necrosis (IBSN) comprises 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 (see these terms).
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1576
has_age_of_onset

All ages
has_inheritance

Not applicable

Autosomal recessive

Mitochondrial inheritance

Autosomal dominant
hasDbXref

OMIM:271930

OMIM:500003

UMLS:C0795996

MeSH:C537500
label

Infantile bilateral striatal necrosis
notation

Clinical group

ORPHA:1576
prefixIRI

ORDO:Orphanet_1576
prefLabel

Infantile bilateral striatal necrosis
present_in

Europe AND has_point_prevalence_range : 1-9 / 1 000 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_307058

http://www.orpha.net/ORDO/Orphanet_183500

http://www.orpha.net/ORDO/Orphanet_182070

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_611314

http://www.orpha.net/ORDO/Orphanet_306695
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