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familial infantile bilateral striatal necrosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial infantile bilateral striatal necrosis

MONDO:0010080

Also known as:familial IBSNfamilial infantile striatonigral degenerationfamilial infantile striatonigral necrosis

Overview

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.

GeneticsAutosomal recessive · NUP62 (chr 19)

OnsetCHILDHOOD

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Difficulty swallowing (dysphagia), Choreoathetosis, Loss of previously acquired skills (developmental regression), and Dystonia and others; and sometimes findings: Hypertonia, Sudden, brief involuntary muscle jerks (myoclonus), Gastroesophageal reflux, and Muscle stiffness (rigidity) and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NUP62 encodes nucleoporin 62 (522 aa). Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. Highest expression in Cells EBV-transformed lymphocytes (93.4 TPM) and Testis (64.2 TPM).

Familial infantile bilateral striatal necrosis is associated with mutations in the NUP62 gene on chromosome 19.

The NUP62 protein participates in HSP90:ATP:p23:FKBP52:SHR:SH translocates to the nucleus pathway.

NUP62 is classified as a druggable target (Druggable Genome and Transporter categories) with score 1.9.

Diagnosis

Genetic testing for NUP62 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial infantile bilateral striatal necrosis.

1 publication has been identified in PubMed for familial infantile bilateral striatal necrosis. Research spans Review / Meta-Analysis (100%).

Recent Publications

Fare CM (2024). [PMID: 38383349](https://pubmed.ncbi.nlm.nih.gov/38383349/). *Nucleus*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271930

Orphanet

European rare disease database

Orphanet:225154

GARD

Genetic and Rare Diseases Info Center

GARD:17141

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial infantile bilateral striatal necrosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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