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spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia, intellectual disability, nystagmus, and obesity

MONDO:0015007

Also known as:SINO

Overview

GeneticsAutosomal dominant · KIDINS220 (chr 2)

OnsetANTENATAL

ResearchLimited published research (7 articles)

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 always present findings: Hypermetropia, Spastic gait, Optic nerve dysplasia, and Nystagmus and others; and common findings: Astigmatism, Strabismus, Delayed CNS myelination, and Dilated third ventricle and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Spastic gait, Intellectual disability, Overactive reflexes (hyperreflexia)

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.

KIDINS220 encodes kinase D interacting substrate 220 (1,771 aa). Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Highest expression in Brain Cerebellar Hemisphere (55.4 TPM) and Brain Cerebellum (40.8 TPM).

Spastic paraplegia, intellectual disability, nystagmus, and obesity has been associated with mutations in the KIDINS220 gene on chromosome 2.

The KIDINS220 protein participates in Prolonged ERK activation events pathway.

KIDINS220 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KIDINS220 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 15 always present features, 18 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 spastic paraplegia, intellectual disability, nystagmus, and obesity.

7 publications have been identified in PubMed for spastic paraplegia, intellectual disability, nystagmus, and obesity. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Fernández-Albarral JA (2025). [PMID: 39939990](https://pubmed.ncbi.nlm.nih.gov/39939990/). *Fluids Barriers CNS*. [Basic Science / Preclinical]
Qi H (2024). [PMID: 39129698](https://pubmed.ncbi.nlm.nih.gov/39129698/). *Actas Esp Psiquiatr*. [Case Report / Case Series]
Miremberg H (2024). [PMID: 39367534](https://pubmed.ncbi.nlm.nih.gov/39367534/). *Prenat Diagn*. [Case Report / Case Series]
Bonati MT (2024). [PMID: 39336781](https://pubmed.ncbi.nlm.nih.gov/39336781/). *Genes (Basel)*. [Review / Meta-Analysis]
Alstrup M (2024). [PMID: 39033379](https://pubmed.ncbi.nlm.nih.gov/39033379/). *Genet Med*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617296

Orphanet

European rare disease database

Orphanet:521390

GARD

Genetic and Rare Diseases Info Center

GARD:17957

Questions for Your Care Team

→Should I pursue genetic testing for KIDINS220, and what would the results mean for my family?
→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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spastic paraplegia, intellectual disability, nystagmus, and obesity

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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